Przewlekła białaczka limfocytowa
Diagnostyka i diagnoza
Przewlekła białaczka limfocytowa (CLL) to nowotwór hematologiczny charakteryzujący się klonalnym rozrostem dojrzałych limfocytów B, z limfocytozą ≥5 × 10^9/L utrzymującą się co najmniej 3 miesiące oraz charakterystycznym immunofenotypem (CD5+, CD19+, słaba ekspresja CD20, CD23+, FMC7-). Diagnostyka opiera się na morfologii krwi obwodowej z rozmazem, cytometrii przepływowej potwierdzającej klonalność oraz immunofenotyp, a biopsja szpiku kostnego i węzłów chłonnych jest zarezerwowana dla przypadków niejednoznacznych lub oceny zaawansowania. Badania genetyczne, takie jak FISH (detekcja del(17p), del(11q), del(13q), trisomia 12), mutacje IGHV, TP53, NOTCH1 i SF3B1 oraz analiza kariotypu, dostarczają istotnych informacji prognostycznych i wpływają na wybór terapii. W diagnostyce różnicowej uwzględnia się chłoniaka limfocytarnego (SLL), który różni się lokalizacją zmian (głównie węzły chłonne) i limfocytozą <5 × 10^9/L.
- Diagnostyka przewlekłej białaczki limfocytowej
- Badania diagnostyczne
- Badania krwi
- Cytometria przepływowa i immunofenotypowanie
- Badanie szpiku kostnego
- Badania genetyczne i molekularne
- Biopsja węzła chłonnego
- Badania obrazowe
- Badania dodatkowe o znaczeniu prognostycznym
- Systemy klasyfikacji stopnia zaawansowania CLL
- Kryteria rozpoczęcia leczenia
- Podsumowanie
Diagnostyka przewlekłej białaczki limfocytowej
Przewlekła białaczka limfocytowa (CLL) to rodzaj nowotworu krwi i szpiku kostnego, charakteryzujący się postępującym gromadzeniem się dojrzałych, ale nieprawidłowych limfocytów B. Prawidłowa diagnoza CLL ma kluczowe znaczenie dla właściwego zaplanowania leczenia i oceny rokowania pacjenta. W większości przypadków CLL rozpoznaje się na podstawie rutynowych badań krwi, często wykonywanych z innych powodów, zanim pojawią się objawy choroby.12
Kryteria diagnostyczne CLL
Według międzynarodowych wytycznych International Workshop on Chronic Lymphocytic Leukemia (iwCLL), do rozpoznania CLL wymagane jest spełnienie następujących kryteriów:34
- Obecność ≥5 × 10^9/L (5000/μL) limfocytów B we krwi obwodowej utrzymująca się przez co najmniej 3 miesiące
- Potwierdzenie klonalności limfocytów B za pomocą cytometrii przepływowej
- Charakterystyczny immunofenotyp CLL
Warto zaznaczyć, że obecność cytopenii spowodowanej naciekiem szpiku kostnego przez komórki białaczkowe może również definiować rozpoznanie CLL, niezależnie od liczby limfocytów B we krwi obwodowej.7
Różnica między CLL i SLL
Chłoniak limfocytarny (SLL) i przewlekła białaczka limfocytowa (CLL) są uważane za różne manifestacje tej samej choroby. Główna różnica polega na lokalizacji komórek nowotworowych:8
- CLL dotyczy głównie krwi i szpiku kostnego
- SLL charakteryzuje się zajęciem węzłów chłonnych przy liczbie limfocytów B we krwi obwodowej <5000/μL
Badania diagnostyczne
Badania krwi
Podstawowym badaniem w diagnostyce CLL jest morfologia krwi obwodowej z rozmazem i oceną różnicową leukocytów:1112
- U pacjentów z CLL typowo obserwuje się zwiększoną liczbę limfocytów (limfocytoza bezwzględna)
- W rozmazie krwi obwodowej można zaobserwować obecność dojrzałych limfocytów oraz charakterystycznych komórek rozmazanych (smudge cells), które powstają z powodu braku wimentyny, składnika cytoszkieletu w komórkach CLL13
- W początkowym stadium choroby liczba czerwonych krwinek i płytek krwi może być tylko nieznacznie obniżona14
Cytometria przepływowa i immunofenotypowanie
Cytometria przepływowa jest kluczowym badaniem w diagnostyce CLL, pozwalającym na określenie immunofenotypu limfocytów i potwierdzenie klonalności komórek B.1516
Charakterystyczny immunofenotyp CLL obejmuje ekspresję następujących markerów:1718
- Współwystępowanie antygenu limfocytów T (CD5) oraz antygenów powierzchniowych limfocytów B (CD19, CD20, CD23)
- Komórki CLL typowo wykazują ekspresję CD5, CD19, CD20 (słabą), CD23 i brak ekspresji FMC719
- Ekspresja łańcuchów lekkich kappa lub lambda potwierdzająca klonalność
Immunofenotypowanie jest niezbędne do potwierdzenia diagnozy CLL i odróżnienia jej od innych chorób limfoproliferacyjnych.2021
Badanie szpiku kostnego
Biopsja i aspiracja szpiku kostnego nie są rutynowo wymagane do postawienia diagnozy CLL, ale mogą być pomocne w określonych sytuacjach:2223
- Gdy wyniki badań krwi nie są wystarczające do potwierdzenia diagnozy24
- Do oceny przyczyn niewyjaśnionych cytopenii25
- Przed rozpoczęciem leczenia, aby określić stopień zaawansowania choroby26
- Do monitorowania odpowiedzi na leczenie27
W CLL charakterystycznie ponad 30% komórek jądrzastych w aspiratach szpiku stanowią limfocyty.28
Badania genetyczne i molekularne
Badania genetyczne i molekularne nie są niezbędne do postawienia diagnozy CLL, ale dostarczają ważnych informacji prognostycznych i pomagają w wyborze optymalnego leczenia:2930
- Fluorescencyjna hybrydyzacja in situ (FISH) – pozwala na wykrycie zmian chromosomalnych, które mogą mieć znaczenie prognostyczne, takich jak del(17p), del(11q), del(13q) i trisomia 123132
- Badanie stanu mutacji genów łańcucha ciężkiego immunoglobulin (IGHV) – pomaga określić rokowanie i jest przydatne przy podejmowaniu decyzji terapeutycznych3334
- Badania mutacji genów – szczególnie TP53, NOTCH1, SF3B1 mogą wpływać na rokowanie i odpowiedź na leczenie3536
- Analiza kariotypu – złożony kariotyp (≥3 niepowiązane nieprawidłowości chromosomalne) jest związany z gorszym rokowaniem3738
U około 80% pacjentów z CLL badanie FISH wykazuje nieprawidłowości cytogenetyczne w komórkach białaczkowych.39
Biopsja węzła chłonnego
Biopsja węzła chłonnego nie jest rutynowo wykonywana w diagnostyce CLL, ponieważ diagnoza zazwyczaj opiera się na badaniach krwi.40 Może być jednak konieczna w następujących przypadkach:
- Gdy wyniki badań krwi nie są jednoznaczne41
- Do diagnozy SLL, gdy główne zajęcie dotyczy węzłów chłonnych42
- Aby wykluczyć inne schorzenia jako przyczynę powiększenia węzłów chłonnych43
Badania obrazowe
Badania obrazowe nie są niezbędne do postawienia diagnozy CLL, ale mogą być pomocne w określonych sytuacjach:4445
- Do oceny powiększenia węzłów chłonnych i śledziony46
- W celu określenia stopnia zaawansowania choroby47
- Do badania przyczyn objawów, takich jak bóle w klatce piersiowej, utrata masy ciała czy duszność48
Badania obrazowe mogą obejmować: tomografię komputerową (CT), RTG klatki piersiowej, ultrasonografię lub badanie PET-CT w wybranych przypadkach.4950
Badania dodatkowe o znaczeniu prognostycznym
Poza podstawową diagnostyką, wykonuje się również badania pomocne w określeniu rokowania i planowaniu leczenia:51
- Stężenie beta-2-mikroglobuliny (B2M) – wysokie poziomy są związane z trudniejszą do leczenia postacią CLL52
- Czas podwojenia limfocytów – podwojenie liczby limfocytów w okresie roku sugeruje CLL o wyższym ryzyku53
- Badanie immunoglobulin w surowicy – komórki CLL nie wytwarzają skutecznych przeciwciał, co może prowadzić do hipogammaglobulinemii5455
- Badania markerów surowiczych – takich jak CD23, kinaza tymidynowa, które mogą mieć znaczenie prognostyczne56
Systemy klasyfikacji stopnia zaawansowania CLL
Po potwierdzeniu diagnozy CLL określa się stopień zaawansowania choroby, co pomaga w planowaniu leczenia i ocenie rokowania. Dwa główne systemy klasyfikacji to:5758
System Rai
Klasyfikacja Rai dzieli pacjentów na grupy niskiego, pośredniego i wysokiego ryzyka:5960
- Niskie ryzyko (dawniej stadium 0) – limfocytoza we krwi i szpiku kostnym (25% pacjentów)
- Pośrednie ryzyko (dawniej stadia I i II) – limfocytoza z powiększonymi węzłami chłonnymi i/lub powiększeniem śledziony/wątroby (50% pacjentów)
- Wysokie ryzyko (dawniej stadia III i IV) – limfocytoza z niedokrwistością związaną z chorobą (hemoglobina <11 g/dl) lub małopłytkowością (płytki <100 × 10^9/l) (25% pacjentów)
Klasyfikacja Binet
System Binet klasyfikuje pacjentów na podstawie liczby zajętych grup węzłów chłonnych:6162
- Stadium A – zajęcie mniej niż trzech obszarów węzłowych
- Stadium B – zajęcie trzech lub więcej obszarów węzłowych
- Stadium C – niedokrwistość (hemoglobina <10 g/dl) i/lub małopłytkowość (płytki <100 × 10^9/l)
Międzynarodowy indeks prognostyczny CLL
Nowszy system prognostyczny, Międzynarodowy Indeks Prognostyczny dla Przewlekłej Białaczki Limfocytowej (CLL-IPI), łączy czynniki genetyczne, biologiczne i kliniczne w celu określenia grup ryzyka.6364
Kryteria rozpoczęcia leczenia
Nie wszyscy pacjenci z CLL wymagają natychmiastowego leczenia. Według wytycznych iwCLL, kryteria rozpoczęcia terapii obejmują:65
- Postępującą niewydolność szpiku kostnego z rozwojem lub nasileniem niedokrwistości i/lub małopłytkowości
- Masywne, postępujące lub objawowe powiększenie śledziony lub węzłów chłonnych
- Postępująca limfocytoza z czasem podwojenia limfocytów krótszym niż 6 miesięcy
- Objawy ogólne związane z chorobą (gorączka >38°C przez ponad 2 tygodnie bez oznak infekcji, niezamierzona utrata masy ciała >10% w ciągu 6 miesięcy, znaczne zmęczenie, nocne poty)
- Autoimmunologiczna niedokrwistość i/lub małopłytkowość słabo odpowiadająca na standardowe leczenie
Podsumowanie
Diagnostyka przewlekłej białaczki limfocytowej opiera się przede wszystkim na badaniach krwi, w tym morfologii z rozmazem i cytometrii przepływowej, która pozwala potwierdzić charakterystyczny immunofenotyp komórek CLL. Biopsja szpiku kostnego i węzłów chłonnych nie są rutynowo wymagane do postawienia diagnozy. Badania cytogenetyczne i molekularne dostarczają ważnych informacji prognostycznych i pomagają w wyborze optymalnego leczenia. Po potwierdzeniu diagnozy określa się stopień zaawansowania choroby za pomocą systemów klasyfikacji Rai lub Binet, co pomaga w planowaniu dalszego postępowania.6667
Należy podkreślić, że wczesne i dokładne rozpoznanie CLL ma kluczowe znaczenie dla właściwego prowadzenia pacjenta, a standardowe kryteria diagnostyczne pozwalają na interpretację i porównywanie wyników badań klinicznych oraz zatwierdzanie nowych leków przez agencje regulacyjne.68
| Marker | Ekspresja w CLL | Znaczenie diagnostyczne |
|---|---|---|
| CD5 | Dodatnia | Marker typowo występujący na limfocytach T, ale też na komórkach CLL |
| CD19 | Dodatnia | Marker limfocytów B |
| CD20 | Słabo dodatnia | Marker limfocytów B, ekspresja słabsza niż w innych nowotworach z limfocytów B |
| CD23 | Dodatnia | Pomaga w różnicowaniu z chłoniakiem z komórek płaszcza |
| FMC7 | Ujemna/słaba | Epitop CD20, brak ekspresji typowy dla CLL |
| Łańcuchy lekkie kappa/lambda | Ograniczenie klonalności | Potwierdza monoklonalność komórek B |
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Materiały źródłowe
- #1 Chronic lymphocytic leukemia – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/chronic-lymphocytic-leukemia/diagnosis-treatment/drc-20352433
Tests and procedures used to diagnose chronic lymphocytic leukemia include blood tests designed to: […] A complete blood count may be used to count the number of lymphocytes in a blood sample. A high number of B cells, one type of lymphocyte, may indicate chronic lymphocytic leukemia. […] A test called flow cytometry or immunophenotyping helps determine whether an increased number of lymphocytes is due to chronic lymphocytic leukemia, a different blood disorder or your body’s reaction to another process, such as infection. […] If chronic lymphocytic leukemia is present, flow cytometry may also help analyze the leukemia cells for characteristics that help predict how aggressive the cells are. […] A test called fluorescence in situ hybridization (FISH) examines the chromosomes inside the cancerous lymphocytes to look for changes. Doctors sometimes use this information to determine your prognosis and help choose a treatment.
- #2 Tests for CLL | American Cancer Societyhttps://www.cancer.org/cancer/types/chronic-lymphocytic-leukemia/detection-diagnosis-staging/how-diagnosed.html
If signs and symptoms or the results of blood tests suggest you might have chronic lymphocytic leukemia (CLL), further tests are needed to be sure. […] If CLL is found, other tests will also be done to learn more about it. […] If you might have CLL (or another type of leukemia), your health care team will most likely do a physical exam and take a complete medical history. […] During the medical history, they will focus on any symptoms you’ve had and how long you’ve had them. […] If the results suggest leukemia, you will probably be referred to a hematologist/oncologist a doctor who specializes in treating blood disorders, including blood cancers like leukemia. […] Most often, CLL can be diagnosed based on the results of blood tests (taken from a vein in your arm). […] People with CLL have too many lymphocytes, a type of white blood cell, in their blood.
- #3 Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer InstituteâWorking Group 1996 guidelineshttps://pmc.ncbi.nlm.nih.gov/articles/PMC2972576/
Standardized criteria for diagnosis and response assessment are needed to interpret and compare clinical trials and for approval of new therapeutic agents by regulatory agencies. […] The diagnosis of CLL requires the presence of more than or equal to 5 109/L B lymphocytes (5000/L) in the peripheral blood for the duration of at least 3 months. […] The presence of a cytopenia caused by a typical marrow infiltrate defines the diagnosis of CLL regardless of the number of peripheral blood B lymphocytes or of the lymph node involvement. […] The definition of SLL requires the presence of lymphadenopathy and the absence of cytopenias caused by a clonal marrow infiltrate. […] CLL cells coexpress the T-cell antigen CD5 and B-cell surface antigens CD19, CD20, and CD23. […] The tests described in this section are not needed to establish the diagnosis of CLL but may help predict the prognosis or to assess the tumor burden.
- #4 CLL Diagnosis: Criteria and Procedurehttps://www.healthline.com/health/cll/cll-diagnosis-criteria
A CLL diagnosis requires a B lymphocyte count of 5 billion per liter (or 5,000 per microliter) for 3 months. A doctor needs to use a technique called flow cytometry to confirm a CLL diagnosis. […] The primary tests doctors use to help diagnose CLL are blood tests and flow cytometry. Blood tests can help doctors see whether you have increased levels of abnormal white blood cells. Flow cytometry allows doctors to see markers on the surface of your blood cells that are characteristic of CLL. […] According to the iwCLL guidelines, a CLL diagnosis always requires: blood tests, immunophenotyping with flow cytometry. […] A complete blood count is an essential test for diagnosing CLL. People with CLL have elevated white blood cell counts, specifically elevated B lymphocyte counts. […] Doctors can confirm a CLL diagnosis using flow cytometry. During this test, a sample of your blood or bone marrow is stained with special dyes and passed through a laser. The results can show your doctor abnormal markers on the surface of your B lymphocytes suggestive of CLL.
- #5 Chronic lymphocytic leukemia: 2022 update on diagnostic and therapeutic procedures – PubMedhttps://pubmed.ncbi.nlm.nih.gov/34625994/
Chronic lymphocytic leukemia (CLL) is one of the most frequent types of leukemia. It typically occurs in elderly patients and has a highly variable clinical course. […] The diagnosis is established by blood counts, blood smears, and immunophenotyping of circulating B-lymphocytes, which identify a clonal B-cell population carrying the CD5 antigen as well as typical B-cell markers. […] The clinical staging systems provide prognostic information by using the results of physical examination and blood counts. Various biological and genetic markers provide additional prognostic information. […] The CLL international prognostic index integrates genetic, biological, and clinical variables to identify distinct risk groups of patients with CLL.
- #6 Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer InstituteâWorking Group 1996 guidelineshttps://pmc.ncbi.nlm.nih.gov/articles/PMC2972576/
Standardized criteria for diagnosis and response assessment are needed to interpret and compare clinical trials and for approval of new therapeutic agents by regulatory agencies. […] The diagnosis of CLL requires the presence of more than or equal to 5 109/L B lymphocytes (5000/L) in the peripheral blood for the duration of at least 3 months. […] The presence of a cytopenia caused by a typical marrow infiltrate defines the diagnosis of CLL regardless of the number of peripheral blood B lymphocytes or of the lymph node involvement. […] The definition of SLL requires the presence of lymphadenopathy and the absence of cytopenias caused by a clonal marrow infiltrate. […] CLL cells coexpress the T-cell antigen CD5 and B-cell surface antigens CD19, CD20, and CD23. […] The tests described in this section are not needed to establish the diagnosis of CLL but may help predict the prognosis or to assess the tumor burden.
- #7 Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer InstituteâWorking Group 1996 guidelineshttps://pmc.ncbi.nlm.nih.gov/articles/PMC2972576/
Standardized criteria for diagnosis and response assessment are needed to interpret and compare clinical trials and for approval of new therapeutic agents by regulatory agencies. […] The diagnosis of CLL requires the presence of more than or equal to 5 109/L B lymphocytes (5000/L) in the peripheral blood for the duration of at least 3 months. […] The presence of a cytopenia caused by a typical marrow infiltrate defines the diagnosis of CLL regardless of the number of peripheral blood B lymphocytes or of the lymph node involvement. […] The definition of SLL requires the presence of lymphadenopathy and the absence of cytopenias caused by a clonal marrow infiltrate. […] CLL cells coexpress the T-cell antigen CD5 and B-cell surface antigens CD19, CD20, and CD23. […] The tests described in this section are not needed to establish the diagnosis of CLL but may help predict the prognosis or to assess the tumor burden.
- #8 What Is Chronic Lymphocytic Leukemia? | American Cancer Societyhttps://www.cancer.org/cancer/types/chronic-lymphocytic-leukemia/about/what-is-cll.html
Chronic lymphocytic leukemia (CLL) is one of the most common types of leukemia in adults. […] Knowing the exact type of leukemia you have will help your cancer care team better predict your outlook and select the best treatment. […] CLL is a chronic (slower growing) leukemia. […] CLL is a lymphocytic leukemia. […] Lab tests can be done on the leukemia cells to tell which type of CLL you have. […] If the CLL cells have either a deletion of part of chromosome 17 (written as del(17p)) or a mutation in the TP53 gene, the leukemia tends to grow faster and might be harder to treat with certain types of medicines. […] CLL and small lymphocytic lymphoma (SLL) can be thought of as different versions of the same disease, so much so that they are often grouped together (as CLL/SLL). […] The main difference between SLL and CLL is the location of most of the cancer cells in the body: CLL is mainly in the blood and bone marrow. […] SLL and CLL are treated in basically the same way. […] The common form of CLL starts in B lymphocytes.
- #9 Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer InstituteâWorking Group 1996 guidelineshttps://pmc.ncbi.nlm.nih.gov/articles/PMC2972576/
Standardized criteria for diagnosis and response assessment are needed to interpret and compare clinical trials and for approval of new therapeutic agents by regulatory agencies. […] The diagnosis of CLL requires the presence of more than or equal to 5 109/L B lymphocytes (5000/L) in the peripheral blood for the duration of at least 3 months. […] The presence of a cytopenia caused by a typical marrow infiltrate defines the diagnosis of CLL regardless of the number of peripheral blood B lymphocytes or of the lymph node involvement. […] The definition of SLL requires the presence of lymphadenopathy and the absence of cytopenias caused by a clonal marrow infiltrate. […] CLL cells coexpress the T-cell antigen CD5 and B-cell surface antigens CD19, CD20, and CD23. […] The tests described in this section are not needed to establish the diagnosis of CLL but may help predict the prognosis or to assess the tumor burden.
- #10 CLL / SLL Diagnosis – CLL Societyhttps://cllsociety.org/newly-diagnosed/diagnosis/
The diagnosis of SLL requires the finding of an enlarged lymph node or nodes and/or an enlarged spleen with less than 5000 B-lymphocytes per microliter of blood (the absolute lymphocyte count or ALC is <5.0). Once more than 5,000 cancerous B-lymphocytes per microliter have spilled over into the blood,
- #11 Tests for CLL | American Cancer Societyhttps://www.cancer.org/cancer/types/chronic-lymphocytic-leukemia/detection-diagnosis-staging/how-diagnosed.html
If signs and symptoms or the results of blood tests suggest you might have chronic lymphocytic leukemia (CLL), further tests are needed to be sure. […] If CLL is found, other tests will also be done to learn more about it. […] If you might have CLL (or another type of leukemia), your health care team will most likely do a physical exam and take a complete medical history. […] During the medical history, they will focus on any symptoms you’ve had and how long you’ve had them. […] If the results suggest leukemia, you will probably be referred to a hematologist/oncologist a doctor who specializes in treating blood disorders, including blood cancers like leukemia. […] Most often, CLL can be diagnosed based on the results of blood tests (taken from a vein in your arm). […] People with CLL have too many lymphocytes, a type of white blood cell, in their blood.
- #12 CoxHealth | Chronic Lymphocytic Leukemia (CLL): Diagnosishttps://www.coxhealth.com/condition/chronic-lymphocytic-leukemia-cll-diagnosis/
Chronic Lymphocytic Leukemia (CLL): Diagnosis […] If your health care provider thinks you might have CLL, you will need certain exams and tests to make sure. Your provider will ask you about your health history, your symptoms, risk factors, and family history of disease. Your provider will also give you a physical exam. But the definitive diagnosis of CLL depends on blood work. […] You may have one or more of these tests: […] Blood tests. CLL is often found with blood tests before a person has symptoms. For these tests, blood will be taken from a vein in your arm. A complete blood count with differential is a blood test that reports the numbers of each type of blood cell. People with CLL have an increased count of lymphocytes, which is a type of white blood cell. Your care team may also do a peripheral blood smear and flow cytometry test. These tests look closely at cells and help confirm the diagnosis of CLL.
- #13 Chronic lymphocytic leukemia – Wikipediahttps://en.wikipedia.org/wiki/Chronic_lymphocytic_leukemia
In order to be diagnosed with CLL, the patient must have a white blood cell count greater than 5 billion cells per liter (L) (5×10^9/L) of blood. […] Staging, which helps determine the extent of the disease, is done using one of two systems: the Rai staging system or the Binet classification. […] The combination of the microscopic examination of the peripheral blood and analysis of the lymphocytes by flow cytometry to confirm clonality and molecular expression is needed to establish the diagnosis of CLL. […] Smudge cells are a result of CLL cells lacking vimentin, a type of cytoskeleton proteins which is a structural component in a cell which maintains the cell’s internal shape and mechanical resilience.
- #14 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
An accurate diagnosis of the type of leukemia is important. The exact diagnosis helps the doctor to […] A person with CLL will have increased numbers of lymphocytes (a type of white blood cell). Low platelet counts and low red blood cell counts may also be present; these counts are usually only slightly decreased in the early stage of the illness. […] Immunophenotyping of lymphocytes is an important test used to diagnose CLL, by comparing the cancer cells to normal immune cells. The test results indicate whether or not the persons lymphocytes are derived from a single cancer cell (leukemia) or from other noncancerous conditions. […] Generally, if the red blood cells and platelets are normal, a bone marrow aspiration and biopsy are not needed to make a diagnosis of CLL. However, these tests may be recommended before treatment begins.
- #15 Chronic lymphocytic leukemia – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/chronic-lymphocytic-leukemia/diagnosis-treatment/drc-20352433
Tests and procedures used to diagnose chronic lymphocytic leukemia include blood tests designed to: […] A complete blood count may be used to count the number of lymphocytes in a blood sample. A high number of B cells, one type of lymphocyte, may indicate chronic lymphocytic leukemia. […] A test called flow cytometry or immunophenotyping helps determine whether an increased number of lymphocytes is due to chronic lymphocytic leukemia, a different blood disorder or your body’s reaction to another process, such as infection. […] If chronic lymphocytic leukemia is present, flow cytometry may also help analyze the leukemia cells for characteristics that help predict how aggressive the cells are. […] A test called fluorescence in situ hybridization (FISH) examines the chromosomes inside the cancerous lymphocytes to look for changes. Doctors sometimes use this information to determine your prognosis and help choose a treatment.
- #16 Tests for CLL | American Cancer Societyhttps://www.cancer.org/cancer/types/chronic-lymphocytic-leukemia/detection-diagnosis-staging/how-diagnosed.html
Flow cytometry and immunohistochemistry (IHC) are tests used to classify leukemia cells according to the substances (antigens or markers) on their surfaces. […] Recognizing these changes can be important in determining your outlook and treatment options. […] In people with CLL, the leukemia cells often have certain chromosome changes. […] This type of information may be helpful to determine your prognosis (outlook). […] Other types of lab tests can also be done on the samples to look for specific gene changes or other changes in the leukemia cells. […] Imaging tests are not done to diagnose CLL, but they may be done for other reasons, such as to look for the cause of symptoms like chest pain, weight loss, or trouble breathing.
- #17 Chronic Lymphocytic Leukemia (CLL) – Hematology and Oncology – Merck Manual Professional Editionhttps://www.merckmanuals.com/professional/hematology-and-oncology/leukemias/chronic-lymphocytic-leukemia-cll
Chronic lymphocytic leukemia (CLL) is characterized by progressive accumulation of phenotypically mature malignant B lymphocytes. […] Diagnosis is by flow cytometry and immunophenotyping of peripheral blood. […] The diagnosis of chronic lymphocytic leukemia is first suspected when an absolute peripheral lymphocytosis of 5000/mcL ( 5 109/L)) is found. Peripheral blood flow cytometry can confirm clonality in circulating B cells. The circulating lymphocytes should express CD5, CD19, CD20, CD23, and kappa or lambda light chains. […] Bone marrow aspirate and biopsy are not required for the diagnosis of CLL. However, if done, the marrow often demonstrates 30% lymphocytes. […] Other findings at diagnosis can include hypogammaglobulinemia ( 15% of cases), elevated lactate dehydrogenase (LDH), elevated uric acid, elevated hepatic enzymes, and rarely, hypercalcemia.
- #18 Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer InstituteâWorking Group 1996 guidelineshttps://pmc.ncbi.nlm.nih.gov/articles/PMC2972576/
Standardized criteria for diagnosis and response assessment are needed to interpret and compare clinical trials and for approval of new therapeutic agents by regulatory agencies. […] The diagnosis of CLL requires the presence of more than or equal to 5 109/L B lymphocytes (5000/L) in the peripheral blood for the duration of at least 3 months. […] The presence of a cytopenia caused by a typical marrow infiltrate defines the diagnosis of CLL regardless of the number of peripheral blood B lymphocytes or of the lymph node involvement. […] The definition of SLL requires the presence of lymphadenopathy and the absence of cytopenias caused by a clonal marrow infiltrate. […] CLL cells coexpress the T-cell antigen CD5 and B-cell surface antigens CD19, CD20, and CD23. […] The tests described in this section are not needed to establish the diagnosis of CLL but may help predict the prognosis or to assess the tumor burden.
- #19 Chronic Lymphocytic Leukemia (CLL) Workup: Approach Considerations, Chromosomal Testing, Bone Marrow Aspiration and Biopsyhttps://emedicine.medscape.com/article/199313-workup
In patients with CLL, the complete blood count (CBC) with differential shows absolute lymphocytosis, with more than 5000 B-lymphocytes/L. Lymphocytosis must persist for longer than 3 months. Clonality must be confirmed by flow cytometry. The presence of a cytopenia caused by clonal bone marrow involvement establishes the diagnosis of CLL regardless of the peripheral B-lymphocyte count. […] Peripheral blood flow cytometry is the most valuable test to confirm a diagnosis of CLL. It confirms the presence of circulating clonal B-lymphocytes expressing CD5, CD19, CD20(dim), CD23, and an absence of FMC-7 staining. This immunotype differentiates CLL from other hematologic disorders in the differential diagnosis (see DDx). […] Bone marrow aspiration and biopsy with flow cytometry is not required in all cases of CLL. However, it may be necessary in selected cases to establish the diagnosis and to assess for complications, including cytopenias, which may be explained by concomitant hematologic disorders.
- #20 Tests for chronic lymphocytic leukaemia (CLL) | Cancer Research UKhttps://www.cancerresearchuk.org/about-cancer/chronic-lymphocytic-leukaemia-cll/getting-diagnosed/tests-cll
Immunophenotyping are tests to look for certain proteins on the surface of the leukaemia cells. This is one of the most important tests you have. The results are usually all your doctor needs to confirm a diagnosis of CLL. […] You may have this test to check whether there are cancer cells in your bone marrow. It can confirm if you have CLL and help to give doctors more information about your CLL. […] There are different tests that look for changes in the genes of your leukaemia cells. Your doctor can do these tests on your blood and bone marrow samples. […] You may have some scans to check for CLL and signs of infection. […] It is not very common to test your lymph nodes for CLL. This is because your doctor can usually diagnose CLL from blood tests. […] CLL and its treatment can weaken your immune system. This is because it stops your bone marrow from making blood cells that help fight infection. This increases your risk of getting an infection. […] The tests you have help your doctor find out if you have leukaemia and the type of leukaemia you have. This is important because doctors use this information to recommend the best treatment for you.
- #21 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
An accurate diagnosis of the type of leukemia is important. The exact diagnosis helps the doctor to […] A person with CLL will have increased numbers of lymphocytes (a type of white blood cell). Low platelet counts and low red blood cell counts may also be present; these counts are usually only slightly decreased in the early stage of the illness. […] Immunophenotyping of lymphocytes is an important test used to diagnose CLL, by comparing the cancer cells to normal immune cells. The test results indicate whether or not the persons lymphocytes are derived from a single cancer cell (leukemia) or from other noncancerous conditions. […] Generally, if the red blood cells and platelets are normal, a bone marrow aspiration and biopsy are not needed to make a diagnosis of CLL. However, these tests may be recommended before treatment begins.
- #22 Chronic Lymphocytic Leukemia (CLL) – Hematology and Oncology – Merck Manual Professional Editionhttps://www.merckmanuals.com/professional/hematology-and-oncology/leukemias/chronic-lymphocytic-leukemia-cll
Chronic lymphocytic leukemia (CLL) is characterized by progressive accumulation of phenotypically mature malignant B lymphocytes. […] Diagnosis is by flow cytometry and immunophenotyping of peripheral blood. […] The diagnosis of chronic lymphocytic leukemia is first suspected when an absolute peripheral lymphocytosis of 5000/mcL ( 5 109/L)) is found. Peripheral blood flow cytometry can confirm clonality in circulating B cells. The circulating lymphocytes should express CD5, CD19, CD20, CD23, and kappa or lambda light chains. […] Bone marrow aspirate and biopsy are not required for the diagnosis of CLL. However, if done, the marrow often demonstrates 30% lymphocytes. […] Other findings at diagnosis can include hypogammaglobulinemia ( 15% of cases), elevated lactate dehydrogenase (LDH), elevated uric acid, elevated hepatic enzymes, and rarely, hypercalcemia.
- #23 Chronic Lymphocytic Leukemia (CLL) Workup: Approach Considerations, Chromosomal Testing, Bone Marrow Aspiration and Biopsyhttps://emedicine.medscape.com/article/199313-workup
In patients with CLL, the complete blood count (CBC) with differential shows absolute lymphocytosis, with more than 5000 B-lymphocytes/L. Lymphocytosis must persist for longer than 3 months. Clonality must be confirmed by flow cytometry. The presence of a cytopenia caused by clonal bone marrow involvement establishes the diagnosis of CLL regardless of the peripheral B-lymphocyte count. […] Peripheral blood flow cytometry is the most valuable test to confirm a diagnosis of CLL. It confirms the presence of circulating clonal B-lymphocytes expressing CD5, CD19, CD20(dim), CD23, and an absence of FMC-7 staining. This immunotype differentiates CLL from other hematologic disorders in the differential diagnosis (see DDx). […] Bone marrow aspiration and biopsy with flow cytometry is not required in all cases of CLL. However, it may be necessary in selected cases to establish the diagnosis and to assess for complications, including cytopenias, which may be explained by concomitant hematologic disorders.
- #24 CoxHealth | Chronic Lymphocytic Leukemia (CLL): Diagnosishttps://www.coxhealth.com/condition/chronic-lymphocytic-leukemia-cll-diagnosis/
Bone marrow aspiration or biopsy. This procedure is usually not needed to diagnose CLL unless the blood tests are not enough to confirm a CLL diagnosis. It is done by taking out a small amount of bone marrow (aspiration) and/or solid bone marrow tissue (core biopsy). The sample is taken from the back of the hip (pelvic) bone. For the bone marrow aspiration, the skin over the hip is numbed. A long, hollow needle is pushed into the pelvic bone. A syringe is used to pull out a small amount of liquid bone marrow. You may have some brief pain when the marrow is removed. A bone marrow biopsy is usually done just after the aspiration. A slightly bigger needle is used to take out a small core of bone and marrow. This may also cause some brief pain. The fluid and bone marrow are sent to a lab and tested for the number, size, and maturity of the blood cells and checked for abnormal cells. Other tests can also be done on these cells but theyâre not usually needed to diagnose CLL. […] When the results of your tests are in, your health care provider will contact you to discuss them. They will also talk with you about other tests you may need if CLL is found. Make sure you understand the results of your tests and what follow-up you need.
- #25 Chronic lymphocytic leukaemia: An updated approach to diagnosis and management in general practicehttps://www.racgp.org.au/afp/2017/july/chronic-lymphocytic-leukaemia-an-updated-approach
Chronic lymphocytic leukaemia (CLL) is the most common lymphoproliferative disease in Australia. The aim of this article is to give an updated approach to the diagnosis, investigation, monitoring and new treatments of CLL. The diagnosis of CLL is often made incidentally on a routine full blood count, showing lymphocytosis (total lymphocyte count 5.0 x 109). The immunophenotype displayed on flow cytometry shows a monoclonal population of mature B lymphocytes expressing a unique phenotype of CD19+, CD20+,CD5+ and CD23+. […] Blood tests required include: full blood count, urea, electrolytes and creatinine, liver function tests, serum immunoglobulin levels and Coombs test, diagnostic flow cytometry on peripheral blood, viral serology (ie hepatitis B, hepatitis C, human immunodeficiency virus, Epstein-Barr virus and cytomegalovirus). […] Bone marrow biopsy is not required for the diagnosis of CLL, but is recommended for the evaluation of unexplained cytopenias. […] Investigations include full blood count, viral serology, flow cytometry and molecular studies (ordered by haematologists).
- #26 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
An accurate diagnosis of the type of leukemia is important. The exact diagnosis helps the doctor to […] A person with CLL will have increased numbers of lymphocytes (a type of white blood cell). Low platelet counts and low red blood cell counts may also be present; these counts are usually only slightly decreased in the early stage of the illness. […] Immunophenotyping of lymphocytes is an important test used to diagnose CLL, by comparing the cancer cells to normal immune cells. The test results indicate whether or not the persons lymphocytes are derived from a single cancer cell (leukemia) or from other noncancerous conditions. […] Generally, if the red blood cells and platelets are normal, a bone marrow aspiration and biopsy are not needed to make a diagnosis of CLL. However, these tests may be recommended before treatment begins.
- #27 Chronic Lymphocytic Leukemia (CLL): Tests After Diagnosis – Stanford Medicine Children’s Healthhttps://www.stanfordchildrens.org/en/topic/default?id=chronic-lymphocytic-leukemia-cll-tests-after-diagnosis-34-BCLL04
After a diagnosis of CLL, you will likely have other tests. These tests help your healthcare providers learn more about the cancer and how to treat it. Some of these tests can also be used to help show how well treatment is working. Or they can be used to look for signs that the leukemia might be coming back. […] The tests you’ll have may include: Imaging tests, Blood tests, Biopsies. […] Blood may be checked in a lab. Routine blood tests will be done often. These measure your blood cell levels and check things such as how well your liver and kidneys are working. The special kinds of testing done to look at leukemia cells in the blood are noted below. […] A biopsy is a small amount of tissue that’s taken and checked in a lab. There are several types of biopsies. […] Tests can be done on blood or bone marrow samples to guide treatment decisions. These tests can also see how quickly the CLL cells are likely to grow. They can give some ideas about how well treatment is working. The tests include: Flow cytometry and immunohistochemistry. These tests are used on blood, bone marrow, or other biopsy samples. The tests look for certain substances on the surface of the leukemia cells. This is called immunophenotyping. These tests can be used to make the diagnosis of CLL. […] Your healthcare provider will talk with you about which tests you’ll have. Follow your healthcare provider’s directions to get ready for the tests. Ask questions and talk about any concerns you have.
- #28 Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer InstituteâWorking Group 1996 guidelineshttps://pmc.ncbi.nlm.nih.gov/articles/PMC2972576/
Using interphase FISH, cytogenetic lesions can be identified in more than 80% of all CLL cases. […] The leukemia cells express immunoglobulin that may or may not have incurred somatic mutations in the immunoglobulin heavy chain variable region genes (IgVH genes). […] Several studies have found that serum markers CD23, thymidine kinase, and 2-microglobulin may predict survival or progression-free survival. […] In CLL, characteristically more than 30% of the nucleated cells in the aspirate are lymphoid. […] A marrow aspirate and biopsy generally are not required for the diagnosis of CLL. […] Criteria for initiating treatment may vary depending on whether or not the patient is treated in a clinical trial. […] The selection of CLL patients for clinical trials is similar to that for patients with other malignancies. […] Assessment of response should include a careful physical examination and evaluation of the blood and marrow. […] The complete eradication of the leukemia is an obvious desired end point.
- #29 Chronic lymphocytic leukemia – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/chronic-lymphocytic-leukemia/diagnosis-treatment/drc-20352433
Tests and procedures used to diagnose chronic lymphocytic leukemia include blood tests designed to: […] A complete blood count may be used to count the number of lymphocytes in a blood sample. A high number of B cells, one type of lymphocyte, may indicate chronic lymphocytic leukemia. […] A test called flow cytometry or immunophenotyping helps determine whether an increased number of lymphocytes is due to chronic lymphocytic leukemia, a different blood disorder or your body’s reaction to another process, such as infection. […] If chronic lymphocytic leukemia is present, flow cytometry may also help analyze the leukemia cells for characteristics that help predict how aggressive the cells are. […] A test called fluorescence in situ hybridization (FISH) examines the chromosomes inside the cancerous lymphocytes to look for changes. Doctors sometimes use this information to determine your prognosis and help choose a treatment.
- #30 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
This test provides the measurement of the concentration of immunoglobulins in the blood. Immunoglobulins are proteins, called antibodies, which are made by B cells in healthy individuals to protect the body from infection. CLL cells do not make effective antibodies. […] The following tests are not essential to diagnoses CLL, but may help predict the likely outcome (called „prognosis”) for the patient, assess the extent of the disease and determine if the patient is ready for certain treatments. […] About 80 percent of CLL patients who are tested with FISH have cytogenetic abnormalities in their leukemia cells. […] In CLL, a „complex karyotype,” the presence of three or more unrelated defects in chromosomes that occur in more than once cell, is associated with a poorer prognosis. […] In CLL, DNA sequencing is used to test for mutation in the immunoglobulin heavy chain variable (IGHV) region, and NOTCH1, SF3B1, and TP53 genes.
- #31 Tests for CLL | American Cancer Societyhttps://www.cancer.org/cancer/types/chronic-lymphocytic-leukemia/detection-diagnosis-staging/how-diagnosed.html
Flow cytometry and immunohistochemistry (IHC) are tests used to classify leukemia cells according to the substances (antigens or markers) on their surfaces. […] Recognizing these changes can be important in determining your outlook and treatment options. […] In people with CLL, the leukemia cells often have certain chromosome changes. […] This type of information may be helpful to determine your prognosis (outlook). […] Other types of lab tests can also be done on the samples to look for specific gene changes or other changes in the leukemia cells. […] Imaging tests are not done to diagnose CLL, but they may be done for other reasons, such as to look for the cause of symptoms like chest pain, weight loss, or trouble breathing.
- #32 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
This test provides the measurement of the concentration of immunoglobulins in the blood. Immunoglobulins are proteins, called antibodies, which are made by B cells in healthy individuals to protect the body from infection. CLL cells do not make effective antibodies. […] The following tests are not essential to diagnoses CLL, but may help predict the likely outcome (called „prognosis”) for the patient, assess the extent of the disease and determine if the patient is ready for certain treatments. […] About 80 percent of CLL patients who are tested with FISH have cytogenetic abnormalities in their leukemia cells. […] In CLL, a „complex karyotype,” the presence of three or more unrelated defects in chromosomes that occur in more than once cell, is associated with a poorer prognosis. […] In CLL, DNA sequencing is used to test for mutation in the immunoglobulin heavy chain variable (IGHV) region, and NOTCH1, SF3B1, and TP53 genes.
- #33 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
This test provides the measurement of the concentration of immunoglobulins in the blood. Immunoglobulins are proteins, called antibodies, which are made by B cells in healthy individuals to protect the body from infection. CLL cells do not make effective antibodies. […] The following tests are not essential to diagnoses CLL, but may help predict the likely outcome (called „prognosis”) for the patient, assess the extent of the disease and determine if the patient is ready for certain treatments. […] About 80 percent of CLL patients who are tested with FISH have cytogenetic abnormalities in their leukemia cells. […] In CLL, a „complex karyotype,” the presence of three or more unrelated defects in chromosomes that occur in more than once cell, is associated with a poorer prognosis. […] In CLL, DNA sequencing is used to test for mutation in the immunoglobulin heavy chain variable (IGHV) region, and NOTCH1, SF3B1, and TP53 genes.
- #34 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
High levels of beta-2 microglobulin (B2M) are associated with a type of CLL that is harder to treat. […] People with CLL whose lymphocyte number doubles in 1 year have higher-risk CLL and may need closer follow-up care. […] Testing for IGHV mutational status is necessary for treatment when considering chemoimmunotherapy. […] CLL patients who have NOTCH1 gene mutations may have a faster progression of disease and a less favorable outcome. […] CLL patients who have TP53 gene mutations may have a faster progression of disease, resistance to traditional therapy and a less favorable outcome.
- #35 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
This test provides the measurement of the concentration of immunoglobulins in the blood. Immunoglobulins are proteins, called antibodies, which are made by B cells in healthy individuals to protect the body from infection. CLL cells do not make effective antibodies. […] The following tests are not essential to diagnoses CLL, but may help predict the likely outcome (called „prognosis”) for the patient, assess the extent of the disease and determine if the patient is ready for certain treatments. […] About 80 percent of CLL patients who are tested with FISH have cytogenetic abnormalities in their leukemia cells. […] In CLL, a „complex karyotype,” the presence of three or more unrelated defects in chromosomes that occur in more than once cell, is associated with a poorer prognosis. […] In CLL, DNA sequencing is used to test for mutation in the immunoglobulin heavy chain variable (IGHV) region, and NOTCH1, SF3B1, and TP53 genes.
- #36 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
High levels of beta-2 microglobulin (B2M) are associated with a type of CLL that is harder to treat. […] People with CLL whose lymphocyte number doubles in 1 year have higher-risk CLL and may need closer follow-up care. […] Testing for IGHV mutational status is necessary for treatment when considering chemoimmunotherapy. […] CLL patients who have NOTCH1 gene mutations may have a faster progression of disease and a less favorable outcome. […] CLL patients who have TP53 gene mutations may have a faster progression of disease, resistance to traditional therapy and a less favorable outcome.
- #37 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
This test provides the measurement of the concentration of immunoglobulins in the blood. Immunoglobulins are proteins, called antibodies, which are made by B cells in healthy individuals to protect the body from infection. CLL cells do not make effective antibodies. […] The following tests are not essential to diagnoses CLL, but may help predict the likely outcome (called „prognosis”) for the patient, assess the extent of the disease and determine if the patient is ready for certain treatments. […] About 80 percent of CLL patients who are tested with FISH have cytogenetic abnormalities in their leukemia cells. […] In CLL, a „complex karyotype,” the presence of three or more unrelated defects in chromosomes that occur in more than once cell, is associated with a poorer prognosis. […] In CLL, DNA sequencing is used to test for mutation in the immunoglobulin heavy chain variable (IGHV) region, and NOTCH1, SF3B1, and TP53 genes.
- #38 Chronic Lymphocytic Leukemia – CLL | Choose the Right Testhttps://arupconsult.com/content/chronic-lymphocytic-leukemia
Laboratory tests play an important role in staging, prognosis, and treatment decision-making in CLL. The prognostic significance of specific markers depends on the patient and treatment regimen. […] Somatic IGHV sequencing to determine mutation status is particularly useful for prognosis and treatment decision-making, and the NCCN recommends somatic IGHV sequencing rather than flow cytometry testing. […] In addition to recommended FISH testing for del(17p), FISH testing for del(11q), del(13q), and trisomy 12 is useful in prognosis and treatment decision-making. […] Identification of a complex karyotype by chromosome karyotyping analysis on CpG-stimulated CLL cells is useful in prognosis; a complex karyotype (3 unrelated abnormalities in multiple cells) has adverse prognostic implications.
- #39 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
This test provides the measurement of the concentration of immunoglobulins in the blood. Immunoglobulins are proteins, called antibodies, which are made by B cells in healthy individuals to protect the body from infection. CLL cells do not make effective antibodies. […] The following tests are not essential to diagnoses CLL, but may help predict the likely outcome (called „prognosis”) for the patient, assess the extent of the disease and determine if the patient is ready for certain treatments. […] About 80 percent of CLL patients who are tested with FISH have cytogenetic abnormalities in their leukemia cells. […] In CLL, a „complex karyotype,” the presence of three or more unrelated defects in chromosomes that occur in more than once cell, is associated with a poorer prognosis. […] In CLL, DNA sequencing is used to test for mutation in the immunoglobulin heavy chain variable (IGHV) region, and NOTCH1, SF3B1, and TP53 genes.
- #40 Tests for chronic lymphocytic leukaemia (CLL) | Cancer Research UKhttps://www.cancerresearchuk.org/about-cancer/chronic-lymphocytic-leukaemia-cll/getting-diagnosed/tests-cll
Immunophenotyping are tests to look for certain proteins on the surface of the leukaemia cells. This is one of the most important tests you have. The results are usually all your doctor needs to confirm a diagnosis of CLL. […] You may have this test to check whether there are cancer cells in your bone marrow. It can confirm if you have CLL and help to give doctors more information about your CLL. […] There are different tests that look for changes in the genes of your leukaemia cells. Your doctor can do these tests on your blood and bone marrow samples. […] You may have some scans to check for CLL and signs of infection. […] It is not very common to test your lymph nodes for CLL. This is because your doctor can usually diagnose CLL from blood tests. […] CLL and its treatment can weaken your immune system. This is because it stops your bone marrow from making blood cells that help fight infection. This increases your risk of getting an infection. […] The tests you have help your doctor find out if you have leukaemia and the type of leukaemia you have. This is important because doctors use this information to recommend the best treatment for you.
- #41 Tests for CLL | American Cancer Societyhttps://www.cancer.org/cancer/types/chronic-lymphocytic-leukemia/detection-diagnosis-staging/how-diagnosed.html
Having more than 5,000 lymphocytes/mm (per cubic millimeter) of blood strongly suggests CLL, but other tests are needed to know for sure. […] This lab test is important for diagnosing CLL. […] In a lymph node biopsy, all or part of a lymph node is removed so it can be looked at under a microscope and tested for leukemia cells. […] This test isn’t always needed to diagnose CLL, but it might be done if blood tests results aren’t enough to make the diagnosis. […] Blood tests or a lymph node biopsy are often enough to diagnose CLL, but if not, samples of your bone marrow might be tested. […] Different types of lab tests might be done on your blood or biopsy samples. […] A key factor is if the cells look mature (like normal blood cells that can fight infections). CLL cells tend to look mature, while cells of acute leukemias look immature.
- #42 CLL / SLL Diagnosis – CLL Societyhttps://cllsociety.org/newly-diagnosed/diagnosis/
CLL / SLL Diagnosis It would be hard to overstate the importance of getting a correct diagnosis, as the diagnosis determines the appropriate treatment. […] The only way to definitively diagnose CLL is with a sophisticated test called flow cytometry that looks at the immune fingerprint of the cancerous clones. In CLL, this can almost always be done on the blood, but for SLL a lymph node biopsy may be necessary. Bone marrow biopsies are rarely indicated as part of a routine blood work-up for CLL/ SLL. CT scans and PET scans are almost never needed at time of diagnosis. […] Make certain that your diagnosis is confirmed with flow cytometry. […] If your healthcare team is recommending bone marrow biopsies and extensive imaging ask âWHY?â and consider getting a 2nd opinion! […] To diagnose chronic lymphocytic leukemia (CLL), there needs to be â¥5000 monoclonal (genetically identical) B-lymphocytes (a type of white blood cell) in the blood for the duration of at least three months. The clonal nature of the circulating B-lymphocytes should be confirmed by flow cytometry.
- #43 Diagnosing Chronic Lymphocytic Leukemia | NYU Langone Healthhttps://nyulangone.org/conditions/chronic-lymphocytic-leukemia/diagnosis
In some cases, our doctors may conduct a bone marrow aspiration and biopsy, in which a small portion of your bone and bone marrow are removed for testing. […] Many people with chronic lymphocytic leukemia develop swollen lymph nodes, which your doctor may feel during a physical exam. […] Occasionally, the doctor may need to perform a lymph node biopsy to determine that a node is swollen due to chronic lymphocytic leukemia and not some other condition. […] Our doctors can obtain the most amount of tissue for molecular and genetic testing by fully removing a lymph node. […] Sometimes surgery is not possible, often because the swollen lymph node is near important blood vessels or nerves, which makes it difficult to reach. […] Depending on the results of this testing, our doctors may suggest closely monitoring the condition or starting a customized treatment plan based on the genetic features of the disease.
- #44 Tests for CLL | American Cancer Societyhttps://www.cancer.org/cancer/types/chronic-lymphocytic-leukemia/detection-diagnosis-staging/how-diagnosed.html
Flow cytometry and immunohistochemistry (IHC) are tests used to classify leukemia cells according to the substances (antigens or markers) on their surfaces. […] Recognizing these changes can be important in determining your outlook and treatment options. […] In people with CLL, the leukemia cells often have certain chromosome changes. […] This type of information may be helpful to determine your prognosis (outlook). […] Other types of lab tests can also be done on the samples to look for specific gene changes or other changes in the leukemia cells. […] Imaging tests are not done to diagnose CLL, but they may be done for other reasons, such as to look for the cause of symptoms like chest pain, weight loss, or trouble breathing.
- #45 How We Diagnose Chronic Lymphocytic Leukemia | Dana-Farber Cancer Institutehttps://www.dana-farber.org/cancer-care/types/chronic-lymphocytic-leukemia/diagnosis
At the Center for Chronic Lymphocytic Leukemia at Dana-Farber Brigham Cancer Center, the oncologists who lead your treatment team work closely with hematopathologists to diagnose your condition and guide your treatment. […] We take findings from all of the above tests and integrate them to make an accurate diagnosis of the cancer type. […] Following a diagnosis, several prognostic tests may be used to determine the course of your disease and treatment. […] Staging is the process used to find out how far the cancer has spread. It is important to know the stage of the disease in order to plan the best treatment. […] Most patients newly diagnosed with CLL will not require imaging tests. […] We believe there is value in patients with suspected or diagnosed CLL receiving a second opinion. […] To confirm your diagnosis. […] To determine the optimal therapy and whether any is needed at this time.
- #46 Tests for chronic lymphocytic leukaemia (CLL) | Cancer Research UKhttps://www.cancerresearchuk.org/about-cancer/chronic-lymphocytic-leukaemia-cll/getting-diagnosed/tests-cll
Immunophenotyping are tests to look for certain proteins on the surface of the leukaemia cells. This is one of the most important tests you have. The results are usually all your doctor needs to confirm a diagnosis of CLL. […] You may have this test to check whether there are cancer cells in your bone marrow. It can confirm if you have CLL and help to give doctors more information about your CLL. […] There are different tests that look for changes in the genes of your leukaemia cells. Your doctor can do these tests on your blood and bone marrow samples. […] You may have some scans to check for CLL and signs of infection. […] It is not very common to test your lymph nodes for CLL. This is because your doctor can usually diagnose CLL from blood tests. […] CLL and its treatment can weaken your immune system. This is because it stops your bone marrow from making blood cells that help fight infection. This increases your risk of getting an infection. […] The tests you have help your doctor find out if you have leukaemia and the type of leukaemia you have. This is important because doctors use this information to recommend the best treatment for you.
- #47 Diagnosis of leukemia | Canadian Cancer Societyhttps://cancer.ca/en/cancer-information/cancer-types/chronic-lymphocytic-leukemia-cll/diagnosis
A lumbar puncture is done to see if cancer has spread to the spinal fluid. […] A lymph node biopsy is a type of surgical biopsy. It is called an excisional biopsy because the lymph node is completely removed. […] An x-ray uses small doses of radiation to make an image of the body’s structures on film. It is used to look for enlarged lymph nodes in the centre of the chest (called mediastinal lymph nodes). […] A computed tomography (CT) scan may be used to look at the spleen and liver to see if they are larger than normal, or enlarged. […] MRI is most often used when doctors think that the leukemia has spread to the brain. […] Ultrasound is used to see if internal organs, such as the kidneys, liver or spleen, have been affected by leukemia.
- #48 Tests for CLL | American Cancer Societyhttps://www.cancer.org/cancer/types/chronic-lymphocytic-leukemia/detection-diagnosis-staging/how-diagnosed.html
Flow cytometry and immunohistochemistry (IHC) are tests used to classify leukemia cells according to the substances (antigens or markers) on their surfaces. […] Recognizing these changes can be important in determining your outlook and treatment options. […] In people with CLL, the leukemia cells often have certain chromosome changes. […] This type of information may be helpful to determine your prognosis (outlook). […] Other types of lab tests can also be done on the samples to look for specific gene changes or other changes in the leukemia cells. […] Imaging tests are not done to diagnose CLL, but they may be done for other reasons, such as to look for the cause of symptoms like chest pain, weight loss, or trouble breathing.
- #49 Diagnosis & treatments – Chronic lymphocytic leukemia – Cancer Institute | Northwell Healthhttps://cancer.northwell.edu/cancer-care/chronic-lymphocytic-leukemia-cll/diagnosis
Cytogenetic analysis: The chromosomes in the cells of a blood or bone marrow sample are examined for abnormalities that could be a sign of leukemia. Cytogenetics and a related procedure called fluorescence in-situ hybridization (FISH) are used to identify whether abnormal chromosomes are present. […] Molecular genetics: The molecular genetics laboratory looks for signs of disease that may have escaped detection by other methods. […] Chest X-rays: X-rays help doctors look for tumors in the chest and lungs or for evidence of infection. […] CT or CAT scan (computerized axial tomography): More detailed than an X-ray, this procedure uses a combination of X-rays and computer technology to produce detailed images if needed. […] MRI (magnetic resonance imaging): A powerful magnet, radio waves and computer imaging combine to create highly detailed pictures of areas inside the body, if needed.
- #50 Diagnosis & treatments – Chronic lymphocytic leukemia – Cancer Institute | Northwell Healthhttps://cancer.northwell.edu/cancer-care/chronic-lymphocytic-leukemia-cll/diagnosis
PET scan (positron emission tomography): Small amounts of radioactive sugar are injected to highlight cancers and areas of infection and inflammation. […] Chronic lymphocytic leukemia requires accurate diagnosis and expert treatment. Treatments can include: […] Chemotherapy: Administered by a medical oncologist, chemotherapy is usually given orally or via an intravenous infusion. In some cases, chemotherapy is combined with a stem cell transplant. […] Stem cell transplants: There are two types of stem cell transplants. Allogenic stem cell plants use donated stem cells, and autologous use your own stem cells. The goal of this treatment is to destroy all of the cancer cells in the bone marrow, blood and other parts of the body using high doses of chemotherapy and then replace blood stem cells to create healthy bone marrow. […] Radiation therapy: Radiation therapy is not commonly used to treat CLL because the disease is located throughout the body. However, it is sometimes used to treat certain symptoms, such as an enlarged spleen or swollen lymph nodes.
- #51 Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer InstituteâWorking Group 1996 guidelineshttps://pmc.ncbi.nlm.nih.gov/articles/PMC2972576/
Standardized criteria for diagnosis and response assessment are needed to interpret and compare clinical trials and for approval of new therapeutic agents by regulatory agencies. […] The diagnosis of CLL requires the presence of more than or equal to 5 109/L B lymphocytes (5000/L) in the peripheral blood for the duration of at least 3 months. […] The presence of a cytopenia caused by a typical marrow infiltrate defines the diagnosis of CLL regardless of the number of peripheral blood B lymphocytes or of the lymph node involvement. […] The definition of SLL requires the presence of lymphadenopathy and the absence of cytopenias caused by a clonal marrow infiltrate. […] CLL cells coexpress the T-cell antigen CD5 and B-cell surface antigens CD19, CD20, and CD23. […] The tests described in this section are not needed to establish the diagnosis of CLL but may help predict the prognosis or to assess the tumor burden.
- #52 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
High levels of beta-2 microglobulin (B2M) are associated with a type of CLL that is harder to treat. […] People with CLL whose lymphocyte number doubles in 1 year have higher-risk CLL and may need closer follow-up care. […] Testing for IGHV mutational status is necessary for treatment when considering chemoimmunotherapy. […] CLL patients who have NOTCH1 gene mutations may have a faster progression of disease and a less favorable outcome. […] CLL patients who have TP53 gene mutations may have a faster progression of disease, resistance to traditional therapy and a less favorable outcome.
- #53 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
High levels of beta-2 microglobulin (B2M) are associated with a type of CLL that is harder to treat. […] People with CLL whose lymphocyte number doubles in 1 year have higher-risk CLL and may need closer follow-up care. […] Testing for IGHV mutational status is necessary for treatment when considering chemoimmunotherapy. […] CLL patients who have NOTCH1 gene mutations may have a faster progression of disease and a less favorable outcome. […] CLL patients who have TP53 gene mutations may have a faster progression of disease, resistance to traditional therapy and a less favorable outcome.
- #54 https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosishttps://www.lls.org/leukemia/chronic-lymphocytic-leukemia/diagnosis
This test provides the measurement of the concentration of immunoglobulins in the blood. Immunoglobulins are proteins, called antibodies, which are made by B cells in healthy individuals to protect the body from infection. CLL cells do not make effective antibodies. […] The following tests are not essential to diagnoses CLL, but may help predict the likely outcome (called „prognosis”) for the patient, assess the extent of the disease and determine if the patient is ready for certain treatments. […] About 80 percent of CLL patients who are tested with FISH have cytogenetic abnormalities in their leukemia cells. […] In CLL, a „complex karyotype,” the presence of three or more unrelated defects in chromosomes that occur in more than once cell, is associated with a poorer prognosis. […] In CLL, DNA sequencing is used to test for mutation in the immunoglobulin heavy chain variable (IGHV) region, and NOTCH1, SF3B1, and TP53 genes.
- #55 Chronic Lymphocytic Leukemia (CLL) – Hematology and Oncology – Merck Manual Professional Editionhttps://www.merckmanuals.com/professional/hematology-and-oncology/leukemias/chronic-lymphocytic-leukemia-cll
Chronic lymphocytic leukemia (CLL) is characterized by progressive accumulation of phenotypically mature malignant B lymphocytes. […] Diagnosis is by flow cytometry and immunophenotyping of peripheral blood. […] The diagnosis of chronic lymphocytic leukemia is first suspected when an absolute peripheral lymphocytosis of 5000/mcL ( 5 109/L)) is found. Peripheral blood flow cytometry can confirm clonality in circulating B cells. The circulating lymphocytes should express CD5, CD19, CD20, CD23, and kappa or lambda light chains. […] Bone marrow aspirate and biopsy are not required for the diagnosis of CLL. However, if done, the marrow often demonstrates 30% lymphocytes. […] Other findings at diagnosis can include hypogammaglobulinemia ( 15% of cases), elevated lactate dehydrogenase (LDH), elevated uric acid, elevated hepatic enzymes, and rarely, hypercalcemia.
- #56 Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer InstituteâWorking Group 1996 guidelineshttps://pmc.ncbi.nlm.nih.gov/articles/PMC2972576/
Using interphase FISH, cytogenetic lesions can be identified in more than 80% of all CLL cases. […] The leukemia cells express immunoglobulin that may or may not have incurred somatic mutations in the immunoglobulin heavy chain variable region genes (IgVH genes). […] Several studies have found that serum markers CD23, thymidine kinase, and 2-microglobulin may predict survival or progression-free survival. […] In CLL, characteristically more than 30% of the nucleated cells in the aspirate are lymphoid. […] A marrow aspirate and biopsy generally are not required for the diagnosis of CLL. […] Criteria for initiating treatment may vary depending on whether or not the patient is treated in a clinical trial. […] The selection of CLL patients for clinical trials is similar to that for patients with other malignancies. […] Assessment of response should include a careful physical examination and evaluation of the blood and marrow. […] The complete eradication of the leukemia is an obvious desired end point.
- #57 Chronic Lymphocytic Leukemia (CLL) – Hematology and Oncology – Merck Manual Professional Editionhttps://www.merckmanuals.com/professional/hematology-and-oncology/leukemias/chronic-lymphocytic-leukemia-cll
Classification uses the Rai or Binet staging systems. Neither system effectively predicts early disease progression. […] The intent of initial therapy is to relieve symptoms, induce durable remissions, and prolong survival. […] Patients are observed until symptoms develop at which point treatment consists of a targeted therapy in combination with a monoclonal antibody directed against B cells. […] Studies have suggested that targeted therapy is as efficacious if not superior to upfront chemoimmunotherapy for most patients. […] The advent of upfront targeted therapy may make selection of optimal therapy challenging in patients with relapsed CLL. […] Monotherapy with an anti-CD20 monoclonal antibody (rituximab, ofatumumab, obinutuzumab) may transiently palliate symptoms. […] Allogeneic stem cell transplantation should be considered for patients who are fit and whose leukemia is refractory to novel combinations of targeted therapies with immunotherapies and emerging cellular therapies.
- #58 Chronic Lymphocytic Leukemia Diagnosis – The Patient Storyhttps://thepatientstory.com/patient-stories/leukemia/chronic-lymphocytic-leukemia/
Chronic lymphocytic leukemia is the most common form of adult leukemia. […] Also hear from top medical experts, like Dr. Kerry Rogers and Dr. Jacqueline Barrientos, on chronic lymphocytic leukemia and the latest on CLL treatments. […] You donât have to endure uncomfortable side effects just because itâs part of cancer treatment. […] Itâs always very important to ask if this testing is done and what the results are so that you can know more about your CLL. […] The major ones are the IgHV and CLL FISH panel, which stands for fluorescence in situ hybridization. […] Some patients present with only the enlarged lymph nodes and no evidence of leukemia in their blood. […] The most common staging for CLL is called Rai Staging, developed by Dr. Kanti Rai. […] According to CLL experts we spoke with, patients go through physical exams and blood counts to get staged.
- #59 Chronic Lymphocytic Leukemia (CLL): Practice Essentials, Pathophysiology, Etiologyhttps://emedicine.medscape.com/article/199313-overview
Patients with CLL typically have a higher-than-normal white blood cell count, which is determined by a complete blood count (CBC). The most recent guidelines from the International Workshop for CLL (iwCLL) state that the diagnosis requires the presence of at least 5000 B-lymphocytes/L for at least 3 months. […] The clonality of the B-lymphocytes must be confirmed with flow cytometry. Other tests that may be helpful for diagnosis include bone marrow biopsy and ultrasonography of the liver and spleen. Immunoglobulin testing may be indicated for patients who develop repeated infections. […] Two staging systems are used for CLL: Rai and Binet. […] The Rai staging system categorizes patients into low-, intermediate-, and high-risk groups, as follows: Low risk (formerly stage 0) Lymphocytosis in the blood and marrow only (25% of presenting population)
- #60 Chronic Lymphocytic Leukemia (CLL): Practice Essentials, Pathophysiology, Etiologyhttps://emedicine.medscape.com/article/199313-overview
Intermediate risk (formerly stages I and II) Lymphocytosis with enlarged nodes in any site or splenomegaly and/or hepatomegaly (50% of presentations) […] High risk (formerly stages III and IV) Lymphocytosis with disease-related anemia (hemoglobin 11 g/dL) or thrombocytopenia (platelets 100 109/L) (25% of all patients). […] The Binet staging system categorizes patients according to the number of lymph node groups involved. […] Patients with early-stage CLL, including low Binet or Rai stages, are not treated with chemotherapy until they become symptomatic or display evidence of rapid progression of disease. Early initiation of chemotherapy has failed to show survival benefit in CLL. […] Allogeneic stem cell transplantation is the only known curative therapy for CLL. It should be discussed with patients as a treatment option at the point of first or second relapse.
- #61 Chronic Lymphocytic Leukemia (CLL): Practice Essentials, Pathophysiology, Etiologyhttps://emedicine.medscape.com/article/199313-overview
Intermediate risk (formerly stages I and II) Lymphocytosis with enlarged nodes in any site or splenomegaly and/or hepatomegaly (50% of presentations) […] High risk (formerly stages III and IV) Lymphocytosis with disease-related anemia (hemoglobin 11 g/dL) or thrombocytopenia (platelets 100 109/L) (25% of all patients). […] The Binet staging system categorizes patients according to the number of lymph node groups involved. […] Patients with early-stage CLL, including low Binet or Rai stages, are not treated with chemotherapy until they become symptomatic or display evidence of rapid progression of disease. Early initiation of chemotherapy has failed to show survival benefit in CLL. […] Allogeneic stem cell transplantation is the only known curative therapy for CLL. It should be discussed with patients as a treatment option at the point of first or second relapse.
- #62https://journals.lww.com/hemasphere/fulltext/2020/10000/diagnosis_and_treatment_of_chronic_lymphocytic.18.aspx
In the presence of a clone at a level lower than 5 109/L with an immunophenotypic profile identical to that observed in CLL and the absence of bone marrow failure or peripheral lymphadenopathy, the diagnosis of MBL should be made. […] The CLL should then be classified according to Binet classification system. […] Patients with progressive Binet stage A or B and patients with Binet stage C should receive a specific treatment. […] The progression criteria have been defined by the IWCLL2 and are represented by: Progressive bone marrow failure with the development or aggravation of anemia and/or thrombocytopenia. […] The thresholds usually considered for the initiation of specific therapy are a hemoglobin level lower than 100 g/L or a platelet level lower than 100 109/L. […] The presence of constitutive symptoms as defined by one or more of the following signs or symptoms related to the disease: Unintentional weight loss of 10% or more in the previous 6 months, Significant fatigue (ECOG PS 2 or worse; inability to perform usual activities), Fever over 38.0C for 2 weeks or more without signs of infection, and Night sweats lasting more than a month with no sign of infection.
- #63 Chronic lymphocytic leukemia: 2022 update on diagnostic and therapeutic procedures – PubMedhttps://pubmed.ncbi.nlm.nih.gov/34625994/
Chronic lymphocytic leukemia (CLL) is one of the most frequent types of leukemia. It typically occurs in elderly patients and has a highly variable clinical course. […] The diagnosis is established by blood counts, blood smears, and immunophenotyping of circulating B-lymphocytes, which identify a clonal B-cell population carrying the CD5 antigen as well as typical B-cell markers. […] The clinical staging systems provide prognostic information by using the results of physical examination and blood counts. Various biological and genetic markers provide additional prognostic information. […] The CLL international prognostic index integrates genetic, biological, and clinical variables to identify distinct risk groups of patients with CLL.
- #64 Chronic Lymphocytic Leukemia (CLL) Workup: Approach Considerations, Chromosomal Testing, Bone Marrow Aspiration and Biopsyhttps://emedicine.medscape.com/article/199313-workup
Although not necessary for the diagnosis or staging of CLL, additional molecular testing now exists that may help predict prognosis or clinical course as well as guide treatment choices. […] The National Comprehensive Cancer Network regards the following tests as informative, but not essential, for determining prognosis, therapy, or both in CLL: Fluorescence in situ hybridization (FISH) to detect trisomy 12, del(11q), del(13q), del(17p). […] A systematic review and meta-analysis by Parikh and colleagues recommended that FISH and IGVH status be performed as standard clinical tests for all patients with newly diagnosed CLL, in those countries with the resources to do so. […] The newest CLL staging system, the International Prognostic Index for Chronic Lymphocytic Leukemia (CLL-IPI), was published in 2016. It is designed to serve as a simple, reliable, and easily applicable method of risk stratification for patients with CLL. […] The CLL-IPI is used to determine the prognosis of patients and in turn help in treatment decision making.
- #65https://journals.lww.com/hemasphere/fulltext/2020/10000/diagnosis_and_treatment_of_chronic_lymphocytic.18.aspx
In the presence of a clone at a level lower than 5 109/L with an immunophenotypic profile identical to that observed in CLL and the absence of bone marrow failure or peripheral lymphadenopathy, the diagnosis of MBL should be made. […] The CLL should then be classified according to Binet classification system. […] Patients with progressive Binet stage A or B and patients with Binet stage C should receive a specific treatment. […] The progression criteria have been defined by the IWCLL2 and are represented by: Progressive bone marrow failure with the development or aggravation of anemia and/or thrombocytopenia. […] The thresholds usually considered for the initiation of specific therapy are a hemoglobin level lower than 100 g/L or a platelet level lower than 100 109/L. […] The presence of constitutive symptoms as defined by one or more of the following signs or symptoms related to the disease: Unintentional weight loss of 10% or more in the previous 6 months, Significant fatigue (ECOG PS 2 or worse; inability to perform usual activities), Fever over 38.0C for 2 weeks or more without signs of infection, and Night sweats lasting more than a month with no sign of infection.
- #66 Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer InstituteâWorking Group 1996 guidelineshttps://pmc.ncbi.nlm.nih.gov/articles/PMC2972576/
Using interphase FISH, cytogenetic lesions can be identified in more than 80% of all CLL cases. […] The leukemia cells express immunoglobulin that may or may not have incurred somatic mutations in the immunoglobulin heavy chain variable region genes (IgVH genes). […] Several studies have found that serum markers CD23, thymidine kinase, and 2-microglobulin may predict survival or progression-free survival. […] In CLL, characteristically more than 30% of the nucleated cells in the aspirate are lymphoid. […] A marrow aspirate and biopsy generally are not required for the diagnosis of CLL. […] Criteria for initiating treatment may vary depending on whether or not the patient is treated in a clinical trial. […] The selection of CLL patients for clinical trials is similar to that for patients with other malignancies. […] Assessment of response should include a careful physical examination and evaluation of the blood and marrow. […] The complete eradication of the leukemia is an obvious desired end point.
- #67 How We Diagnose Chronic Lymphocytic Leukemia | Dana-Farber Cancer Institutehttps://www.dana-farber.org/cancer-care/types/chronic-lymphocytic-leukemia/diagnosis
At the Center for Chronic Lymphocytic Leukemia at Dana-Farber Brigham Cancer Center, the oncologists who lead your treatment team work closely with hematopathologists to diagnose your condition and guide your treatment. […] We take findings from all of the above tests and integrate them to make an accurate diagnosis of the cancer type. […] Following a diagnosis, several prognostic tests may be used to determine the course of your disease and treatment. […] Staging is the process used to find out how far the cancer has spread. It is important to know the stage of the disease in order to plan the best treatment. […] Most patients newly diagnosed with CLL will not require imaging tests. […] We believe there is value in patients with suspected or diagnosed CLL receiving a second opinion. […] To confirm your diagnosis. […] To determine the optimal therapy and whether any is needed at this time.
- #68 Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer InstituteâWorking Group 1996 guidelineshttps://pmc.ncbi.nlm.nih.gov/articles/PMC2972576/
Standardized criteria for diagnosis and response assessment are needed to interpret and compare clinical trials and for approval of new therapeutic agents by regulatory agencies. […] The diagnosis of CLL requires the presence of more than or equal to 5 109/L B lymphocytes (5000/L) in the peripheral blood for the duration of at least 3 months. […] The presence of a cytopenia caused by a typical marrow infiltrate defines the diagnosis of CLL regardless of the number of peripheral blood B lymphocytes or of the lymph node involvement. […] The definition of SLL requires the presence of lymphadenopathy and the absence of cytopenias caused by a clonal marrow infiltrate. […] CLL cells coexpress the T-cell antigen CD5 and B-cell surface antigens CD19, CD20, and CD23. […] The tests described in this section are not needed to establish the diagnosis of CLL but may help predict the prognosis or to assess the tumor burden.