Ostra białaczka szpikowa
Diagnostyka i diagnoza

Ostra białaczka szpikowa (AML) to heterogenna grupa nowotworów hematologicznych charakteryzujących się proliferacją blastów w szpiku kostnym. Diagnostyka AML obejmuje morfologię krwi obwodowej z rozmazem, gdzie często obserwuje się leukocytozę lub leukopenię, anemię, małopłytkowość oraz obecność blastów, a także charakterystyczne pałeczki Auera. Biopsja i aspiracja szpiku kostnego są kluczowe, z kryterium rozpoznania AML stanowiącym ≥20% blastów w szpiku lub krwi obwodowej, lub ≥10% przy obecności specyficznych aberracji genetycznych. Immunofenotypowanie cytometrią przepływową pozwala na potwierdzenie rozpoznania, klasyfikację podtypu oraz ocenę prognostyczną. Badania genetyczne, takie jak analiza cytogenetyczna, FISH, PCR i NGS, umożliwiają identyfikację aberracji genetycznych istotnych dla rokowania i terapii, zgodnie z wytycznymi ELN 2022, które wyróżniają m.in. t(8;21), inv(16), mutacje NPM1, FLT3-ITD oraz mutacje RUNX1, ASXL1, TP53.

Diagnostyka ostrej białaczki szpikowej

Ostra białaczka szpikowa (AML) jest heterogenną grupą nowotworów hematologicznych charakteryzujących się szybką proliferacją niedojrzałych komórek szpiku kostnego, zwanych blastami. Prawidłowa i dokładna diagnoza jest kluczowym elementem skutecznego leczenia. Proces diagnostyczny AML obejmuje szereg badań laboratoryjnych, obrazowych oraz genetycznych, które pozwalają na potwierdzenie rozpoznania, określenie podtypu białaczki oraz ocenę czynników prognostycznych12.

Badania krwi obwodowej

Pierwszym krokiem w diagnostyce AML jest zazwyczaj wykonanie morfologii krwi obwodowej z rozmazem. Kompletna morfologia krwi (CBC) umożliwia ocenę liczby różnych typów komórek we krwi. U pacjentów z AML często obserwuje się:34

  • Zwiększoną lub zmniejszoną liczbę białych krwinek
  • Obniżoną liczbę czerwonych krwinek (anemia)
  • Obniżoną liczbę płytek krwi (małopłytkowość)
  • Obecność niedojrzałych komórek szpikowych (blastów) we krwi obwodowej

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Rozmaz krwi obwodowej pozwala na ocenę morfologii komórek pod mikroskopem. Obecność pałeczek Auera (ziarnistości w cytoplazmie blastów) jest wysoce charakterystyczna dla AML7. Badania biochemiczne krwi mogą również wykazać podwyższone poziomy dehydrogenazy mleczanowej (LDH), kwasu moczowego, potasu i fosforu, co wskazuje na zwiększony rozpad komórek nowotworowych8.

Badanie szpiku kostnego

Biopsja i aspiracja szpiku kostnego stanowią kluczowe badania w diagnostyce AML. Procedury te zazwyczaj wykonuje się jednocześnie, pobierając próbki z tylnego grzebienia biodrowego (kości miednicy)910:

  • Aspiracja szpiku kostnego – polega na wprowadzeniu igły do kości biodrowej i pobraniu płynnej frakcji szpiku kostnego
  • Biopsja szpiku kostnego – obejmuje pobranie małego fragmentu tkanki szpiku kostnego

1112

Zgodnie z kryteriami diagnostycznymi, AML rozpoznaje się, gdy:1314

  • Co najmniej 20% komórek w szpiku kostnym lub krwi obwodowej stanowią blasty
  • Lub co najmniej 10% blastów w szpiku kostnym lub krwi, jeśli stwierdza się charakterystyczne zmiany genetyczne lub chromosomowe

1516

Cytometria przepływowa (immunofenotypowanie)

Immunofenotypowanie za pomocą cytometrii przepływowej jest istotnym badaniem, które:1718

  • Pozwala na ocenę antygenów powierzchniowych komórek białaczkowych
  • Umożliwia potwierdzenie rozpoznania AML (odróżnienie od ostrej białaczki limfoblastycznej)
  • Pomaga w określeniu podtypu AML
  • Dostarcza informacji prognostycznych
  • Umożliwia monitorowanie choroby resztkowej po leczeniu

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Badania genetyczne i molekularne

Badania genetyczne i molekularne mają kluczowe znaczenie w diagnostyce, klasyfikacji i prognozowaniu przebiegu AML21. Do najważniejszych badań należą:

  • Analiza cytogenetyczna – badanie kariotypu komórek białaczkowych, które identyfikuje aberracje chromosomowe mające znaczenie prognostyczne2223
  • Fluorescencyjna hybrydyzacja in situ (FISH) – metoda pozwalająca na wykrycie specyficznych zmian w chromosomach, która jest bardziej czuła niż standardowe badania cytogenetyczne2425
  • Reakcja łańcuchowa polimerazy (PCR) – bardzo czuła metoda wykrywająca nawet niewielkie ilości komórek białaczkowych w próbce2627
  • Sekwencjonowanie nowej generacji (NGS) – pozwala na analizę wielu genów jednocześnie, wykrywając mutacje mające znaczenie w diagnostyce i leczeniu AML2829

Według najnowszych wytycznych European LeukemiaNet (ELN) z 2022 roku, aberracje genetyczne można podzielić na grupy ryzyka, które mają istotne znaczenie dla rokowania i wyboru terapii30:

Zmiany genetyczne o korzystnym rokowaniu:
  • t(8;21)(q22;q22.1); RUNX1-RUNX1T1
  • inv(16)(p13.1q22) lub t(16;16)(p13.1;q22); CBFB-MYH11
  • Mutacja NPM1 bez FLT3-ITD lub z niskim stosunkiem alleli (≤0.5) FLT3-ITD
  • Bialleliczna mutacja CEBPA

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Zmiany genetyczne o niekorzystnym rokowaniu:
  • t(6;9)(p23;q34.1); DEK-NUP214
  • t(v;11q23.3); KMT2A rearranged
  • t(9;22)(q34.1;q11.2); BCR-ABL1
  • inv(3)(q21.3q26.2) lub t(3;3)(q21.3;q26.2); GATA2,MECOM(EVI1)
  • -5 lub del(5q); -7; -17/abn(17p)
  • Złożony kariotyp lub monosomalny kariotyp
  • Dziki typ NPM1 i wysokie stosunki alleli FLT3-ITD
  • Mutacje RUNX1, ASXL1, TP53

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Badania dodatkowe

W procesie diagnostycznym AML wykonuje się również inne badania, które pomagają ocenić rozległość choroby i wykluczyć potencjalne powikłania3334:

  • Nakłucie lędźwiowe (punkcja płynu mózgowo-rdzeniowego) – wykonywane w przypadku podejrzenia zajęcia układu nerwowego przez komórki białaczkowe3536
  • Badania obrazowe:
    • Tomografia komputerowa (CT) – do oceny zajęcia narządów wewnętrznych i węzłów chłonnych3738
    • Rezonans magnetyczny (MRI) – szczególnie przydatny w ocenie zajęcia ośrodkowego układu nerwowego3940
    • Pozytonowa tomografia emisyjna (PET) – może być stosowana do wykrywania ognisk nowotworowych w całym organizmie41
  • Echokardiografia – do oceny funkcji serca przed rozpoczęciem potencjalnie kardiotoksycznej chemioterapii4243

Klasyfikacja AML

Klasyfikacja AML ewoluowała na przestrzeni lat, a obecnie najczęściej stosowane są systemy klasyfikacji Światowej Organizacji Zdrowia (WHO) oraz Międzynarodowa Klasyfikacja Konsensusu (ICC). Klasyfikacje te opierają się głównie na zmianach genetycznych w komórkach AML, ale uwzględniają również inne czynniki4445.

Obecnie istnieje co najmniej 15 różnych podtypów AML, a określenie konkretnego podtypu ma kluczowe znaczenie dla wyboru odpowiedniego leczenia i oceny rokowania4647.

Czynniki prognostyczne

Na rokowanie w AML wpływają różne czynniki4849:

  • Wiek pacjenta – młodszy wiek wiąże się z lepszym rokowaniem
  • Obecność określonych aberracji chromosomowych
  • Mutacje genowe (np. NPM1, FLT3, CEBPA, RUNX1, TP53)
  • Występowanie infekcji układowej w momencie diagnozy
  • Bardzo wysoka liczba białych krwinek w momencie diagnozy
  • Wcześniejsza chemioterapia lub radioterapia z powodu innego nowotworu
  • Historia zespołu mielodysplastycznego
  • Odpowiedź na leczenie indukcyjne

5051

Monitorowanie choroby

Po zakończeniu leczenia indukcyjnego lub po przeszczepieniu komórek macierzystych, pacjenci są regularnie monitorowani w celu oceny odpowiedzi na leczenie i wykrycia ewentualnego nawrotu choroby5253. Monitorowanie obejmuje:

5455

Ocena stanu remisji opiera się na następujących kryteriach56:

  • Remisja całkowita (CR):
    • Normalizacja morfologii krwi obwodowej
    • Mniej niż 5% blastów w szpiku kostnym
    • Brak objawów białaczki w ośrodkowym układzie nerwowym i innych narządach
  • Białaczka oporna na leczenie – brak remisji po leczeniu indukcyjnym
  • Nawrót (wznowa) białaczki – powrót choroby po okresie remisji

5758

Podsumowanie procesu diagnostycznego

Prawidłowa diagnostyka AML wymaga kompleksowego podejścia obejmującego szereg badań laboratoryjnych, obrazowych i genetycznych. Zidentyfikowanie podtypu AML oraz określenie czynników prognostycznych ma kluczowe znaczenie dla wyboru optymalnej strategii terapeutycznej i poprawy rokowania pacjentów5960.

Zgodnie z najnowszymi wytycznymi, charakterystyka molekularna i stratyfikacja ryzyka są nieodzownymi elementami procesu diagnostycznego, które powinny być przeprowadzone przed rozpoczęciem leczenia. Wczesne zaangażowanie specjalistów w zakresie przeszczepiania szpiku kostnego jest również zalecane, szczególnie w przypadku pacjentów z chorobą o pośrednim lub wysokim ryzyku6162.

Należy podkreślić, że AML jest chorobą wymagającą pilnego postępowania diagnostycznego i terapeutycznego, a czas od rozpoznania do wdrożenia leczenia ma istotny wpływ na rokowanie63.

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

  1. 13.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Acute Myeloid Leukemia – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK507875/
    Acute myeloid leukemia (AML) is a rapidly progressing myeloid neoplasm characterized by the clonal expansion of primitive hematopoietic stem cells, known as blasts, in the bone marrow. […] The recent consensus guidelines established by the European LeukemiaNET (ELN) in 2022 have emphasized molecular characterization and risk stratification for individuals with AML, providing updated data on these aspects. […] This activity explores the appropriate timing for considering this condition in the differential diagnosis and outlines proper evaluation methods. […] Identify characteristic clinical features and laboratory findings indicative of acute myeloid leukemia during patient evaluation. […] Implement evidence-based diagnostic and therapeutic strategies for acute myeloid leukemia management in accordance with established guidelines.
  • #2 Acute myeloid leukemia: Clinical manifestations, pathologic features, and diagnosis – UpToDate
    https://www.uptodate.com/contents/acute-myeloid-leukemia-clinical-manifestations-pathologic-features-and-diagnosis
    Acute myeloid leukemia (AML; formerly called acute myelogenous leukemia) refers to a diverse group of aggressive hematologic malignancies involving the proliferation of leukemic blasts committed to the granulocytic, monocytic, erythroid, or megakaryocytic lineages. […] The clinical presentation, pathologic features, and diagnosis of AML are reviewed here. […] The clinical presentation and diagnostic criteria for acute promyelocytic leukemia (APL), a distinctive subtype of AML, are discussed separately. […] The classification, prognosis, cytogenetics, molecular genetics, and complications of AML are discussed separately.
  • #3 Acute myelogenous leukemia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/acute-myelogenous-leukemia/diagnosis-treatment/drc-20369115
    A needle suctioning out liquid bone marrow from hipbone Bone marrow exam […] In a bone marrow aspiration, a healthcare professional uses a thin needle to remove a small amount of liquid bone marrow. It is usually taken from a spot in the back of the hip bone, also called the pelvis. A bone marrow biopsy is often done at the same time. This second procedure removes a small piece of bone tissue and the enclosed marrow. […] Acute myeloid leukemia diagnosis often begins with an exam that checks for bruising, bleeding in the mouth or gums, infection, and swollen lymph nodes. Other tests include blood and lab tests, bone marrow biopsy, lumbar puncture, and imaging. […] Blood tests for acute myelogenous leukemia might include a test to count the number of blood cells in a sample of blood. This test is called a complete blood count. The results may show too many or too few white blood cells. Often the test finds that there are not enough red blood cells and not enough platelets. Another blood test looks for immature white blood cells called myeloblasts in the blood. These cells typically aren’t found in the blood. But they can occur in the blood of people with AML.
  • #4 Tests for Acute Myeloid Leukemia (AML) | American Cancer Society
    https://www.cancer.org/cancer/types/acute-myeloid-leukemia/detection-diagnosis-staging/how-diagnosed.html
    Certain signs and symptoms might suggest that a person could have acute myeloid leukemia (AML), but tests are needed to confirm the diagnosis. […] Different tests can be used to help diagnose AML. If AML is found, tests will be done to learn more about it, including the subtype of AML. […] If the doctor thinks you might have leukemia, tests will be done on samples of cells from your blood and bone marrow (the inner parts of some bones, where new blood cells are made). […] Blood tests are generally the first tests done to look for leukemia. […] Checking the bone marrow for leukemia cells is a key part of testing for it. […] These bone marrow tests are used to help diagnose leukemia, but they might also be repeated later to see how well the leukemia is responding to treatment. […] One or more of the following lab tests may be done on the samples to diagnose AML, to determine the specific subtype of AML, and to learn more about the leukemia.
  • #5 Acute Myeloid Leukemia (AML): Symptoms, Treatment & Prognosis
    https://my.clevelandclinic.org/health/diseases/6212-acute-myeloid-leukemia-aml
    Acute myeloid leukemia (AML) is a rare cancer that affects your bone marrow and blood. […] Healthcare providers use several tests to diagnose AML, including genetic tests to identify AML type. Providers typically start with a physical examination. They check for bruises, bleeding or infection. They check for enlarged (swollen) organs, specifically your liver, spleen and lymph nodes. […] Medical pathologists do genetic tests to identify AML type. They may examine certain chromosomes or genes to see if they’ve mutated or changed. Knowing AML type helps providers decide which treatment is most likely to eliminate AML. Specific tests may include: Immunohistochemistry, which involves staining cells viewed under a microscope. The dye stains cells differently based on the cells chemicals. […] Treatments may include chemotherapy, targeted therapy (including monoclonal antibody therapy) or allogeneic stem cell transplantation. Adults and children have the same treatment options. The goal is to put AML into complete remission. In AML, complete remission means tests show your blood counts are normal. It also means pathologists don’t see cancerous cells when they examine your bone marrow sample under a microscope.
  • #6 Acute myeloid leukaemia (AML) tests | Blood Cancer UK
    https://bloodcancer.org.uk/understanding-blood-cancer/leukaemia/acute-myeloid-leukaemia/aml-symptoms-diagnosis/tests/
    Youll have several tests to confirm whether you have AML or not. AML develops quickly, so if your doctor thinks you might have AML, they will normally do tests very quickly. […] If youre diagnosed with AML, youll have further tests to help plan the right treatment for you. […] A full blood count measures the number of each type of cell in the blood red blood cells, white blood cells and platelets. In AML, you can have too many of some blood cells, and not enough of others. […] If youre diagnosed with AML, youll have regular FBCs to monitor your condition. […] A blood film means taking a sample of your blood to look at under a microscope. This allows the doctors to see if you have any leukaemia cells in your blood, and what they look like. […] AML begins in the bone marrow, so checking the bone marrow for leukaemia cells is an important test. This is one of the main tests used to confirm a diagnosis of AML.
  • #7 Acute myeloid leukemia – Wikipedia
    https://en.wikipedia.org/wiki/Acute_myeloid_leukemia
    Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells, characterized by the rapid growth of abnormal cells that build up in the bone marrow and blood and interfere with normal blood cell production. Symptoms may include feeling tired, shortness of breath, easy bruising and bleeding, and increased risk of infection. […] Diagnosis is generally based on bone marrow aspiration and specific blood tests. […] A complete blood count, which is a blood test, is one of the initial steps in the diagnosis of AML. It may reveal both an excess of white blood cells (leukocytosis) or a decrease (leukopenia), and a low red blood cell count (anemia) and low platelets (thrombocytopenia) can also be commonly seen. A blood film may show leukemic blast cells. Inclusions within the cells called Auer rods, when seen, make the diagnosis highly likely. A definitive diagnosis requires a bone marrow aspiration and biopsy.
  • #8 Acute Myeloid Leukemia – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK507875/
    Select appropriate induction and consolidation therapies tailored to individual patient characteristics and disease risk for patients with acute myeloid leukemia. […] Collaborate with multidisciplinary healthcare teams to develop comprehensive care plans and provide support for patients throughout their acute myeloid leukemia journey. […] Characteristic laboratory findings indicative of auto-tumor lysis, stemming from high tumor burden and rapid cell turnover, often include elevated LDH, uric acid, potassium, and phosphorus levels. […] Collectively, the presence of 20% or more blasts in peripheral blood, as confirmed by immunophenotyping (flow cytometry), is diagnostic of AML. […] Following the confirmation of an AML diagnosis, recommended tests should be ordered, including electrocardiography (ECG) and 2-dimensional (2D) echocardiography, to anticipate potential cardiotoxic effects (eg, from anthracycline therapies).
  • #9 Acute myelogenous leukemia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/acute-myelogenous-leukemia/diagnosis-treatment/drc-20369115
    Bone marrow aspiration and biopsy are procedures that involve collecting cells from the bone marrow. In bone marrow aspiration, a needle is used to draw a sample of the bone marrow fluid. In a bone marrow biopsy, a needle is used to collect a small amount of solid tissue. The samples are typically taken from the hip bone. The samples go to a lab for testing. […] In the lab, tests can look for DNA changes in the bone marrow cells. Which DNA changes are present in your bone marrow cells are an important part of diagnosing AML. The results can help your healthcare team create a treatment plan. […] Sometimes, a lumbar puncture may be needed if there’s concern that the leukemia has spread to the brain and spinal cord. A lumbar puncture also is called a spinal tap. It removes a sample of the fluid that surrounds the brain and spinal cord. A small needle is inserted into the lower back to remove a fluid sample. The sample is sent to a lab.
  • #10
    https://www.nhs.uk/conditions/acute-myeloid-leukaemia/diagnosis/
    In the initial stages of diagnosing acute myeloid leukaemia (AML), your GP will check for physical signs of the condition and arrange for you to have blood tests. A high number of abnormal white blood cells, or a very low blood count in the test sample, could indicate leukaemia. […] To confirm a diagnosis of AML, a small sample of your bone marrow will be taken to examine under a microscope. This procedure is known as a bone marrow biopsy. […] The bone marrow sample will be checked for cancerous cells. If cancerous cells are present, the biopsy can also be used to determine the type of leukaemia you have. […] Genetic tests can be carried out on blood and bone marrow samples to find out what type of AML you have. This can help doctors make decisions about the most appropriate treatment. […] In rare situations where it’s thought there’s a risk that AML has spread to your nervous system, a lumbar puncture may be carried out. If cancerous cells are found in your nervous system, it may affect your treatment.
  • #11 Acute myeloid leukemia diagnosis – Leukaemia Foundation
    https://www.leukaemia.org.au/blood-cancer/types-of-blood-cancer/leukaemia/acute-myeloid-leukaemia/diagnosis/
    Acute myeloid leukaemia diagnosis […] How is AML diagnosed? […] AML is diagnosed by examining samples of your blood and bone marrow in a variety of tests. […] The first step in the diagnosis is a simple blood test called a full blood count (FBC) or complete blood count (CBC). This involves a sample of blood from a vein in your arm being sent to the laboratory for investigation. Many of the white blood cells may be abnormal leukaemic blast cells and the presence of these blast cells suggests you have AML. […] If the results of your blood tests suggest that you might have AML, a bone marrow biopsy may be required to help confirm the diagnosis. A bone marrow biopsy involves taking a sample of bone marrow, usually from the back of the hip bone, and sending it to the laboratory for examination under the microscope. The bone marrow biopsy may be done in the haematologist’s rooms, a clinic or a day procedure centre and it is usually performed under local anaesthesia with sedation given either by tablet or through a small drip in your arm. The sample of bone marrow is examined in the laboratory to determine the number and type of cells present and the amount of haemopoiesis (blood forming) activity taking place there. The diagnosis of AML is confirmed by the presence of an excessive number of blast cells in the bone marrow.
  • #12 Acute Myeloid Leukemia (AML) – Blood Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/blood-disorders/leukemias/acute-myeloid-leukemia-aml
    Blood tests and bone marrow examination are needed for diagnosis. […] The diagnosis of AML is similar to the diagnosis of acute lymphoblastic leukemia. A complete blood count is done, including measurement of the numbers of each of the types of white blood cells. A bone marrow examination is almost always done to confirm the diagnosis and to distinguish AML from other types of leukemia. The immature white blood cells (blasts) are tested for chromosome abnormalities, which helps doctors determine the type of the leukemia and what drugs to use to treat it. […] Tests of blood, including for tumor markers and electrolyte abnormalities, and urine are also done to detect other abnormalities related to AML. […] Imaging tests may also be needed. Computed tomography (CT) or magnetic resonance imaging (MRI) is done if the person has symptoms that suggest leukemia cells in the brain. CT of the chest may be done to check for leukemia cells in the area around the lungs. CT, MRI, or ultrasonography of the abdomen may be done to determine whether internal organs are enlarged. An echocardiogram (ultrasound of the heart) may be done before starting chemotherapy because chemotherapy drugs sometimes affect the heart.
  • #13 Tests for Acute Myeloid Leukemia (AML) | American Cancer Society
    https://www.cancer.org/cancer/types/acute-myeloid-leukemia/detection-diagnosis-staging/how-diagnosed.html
    The percentage of blasts in the bone marrow or blood is particularly important in diagnosing AML. […] At least 20% blasts in the marrow or blood is generally required to diagnose AML, if there are no diagnostic gene or chromosome changes in the AML cells. […] AML can also be diagnosed if there are at least 10% blasts in the bone marrow or blood, AND the AML cells have certain diagnostic gene or chromosome changes. […] Other lab tests may also be done to confirm an AML diagnosis or to learn more about it. […] Some tests look at the chromosomes inside the cells. […] Recognizing these changes can help identify certain types of AML and might also be important in determining a persons outlook and treatment options. […] Not all chromosome changes can be seen under a microscope. […] Other types of lab tests can also be done on the samples to look for specific gene or other changes in the leukemia cells.
  • #14 How AML Subtypes Affect Outlook & Treatment | American Cancer Society | American Cancer Society
    https://www.cancer.org/cancer/types/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html
    In both systems, the percentage of blasts (very immature blood cells) in the bone marrow or blood is important in diagnosing AML. […] If the AML cells have certain gene or chromosome changes (see below), usually at least 10% of the cells in the bone marrow or blood must be blasts. […] If there are no major gene or chromosome changes in the AML cells, usually at least 20% of the cells in the bone marrow or blood must be blasts to diagnose AML. […] The classification of AML has become more complex over time, as doctors have learned more about the genetic changes inside AML cells. […] The International Consensus Classification (ICC) can also be used to determine the AML subtype. […] Like the WHO classification, its based mainly on the gene or chromosome changes in the AML cells, but other factors can be important, too.
  • #15 Acute Myeloid Leukemia (AML) – Hematology and Oncology – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/hematology-and-oncology/leukemias/acute-myeloid-leukemia-aml
    In acute myeloid leukemia (AML), malignant transformation and uncontrolled proliferation of an abnormally differentiated, long-lived myeloid progenitor cell results in high circulating numbers of immature blood cells and replacement of normal marrow by malignant cells. […] Examination of peripheral blood smear and bone marrow is diagnostic. […] A diagnosis of acute myeloid leukemia is made when myeloid blast cells are 20% of marrow nucleated cells or 20% of nonerythroid cells when the erythroid component is 50%, or at any blast percentage in the presence of recurrent cytogenetic abnormalities [t(8;21), t(15;17), inv(16) or t(16;16)]. Diagnosis can be made by the same criteria using peripheral blood. […] CBC and peripheral smear are the first tests done; pancytopenia and peripheral blasts suggest acute leukemia.
  • #16 Acute myeloid leukemia – Wikipedia
    https://en.wikipedia.org/wiki/Acute_myeloid_leukemia
    Bone marrow is examined under light microscopy, as well as flow cytometry, to diagnose the presence of leukemia, to differentiate AML from other types of leukemia (e.g. acute lymphoblastic leukemia), and to provide information about how mature or immature the affected cells are that can assist in classifying the subtype of disease. […] The standard classification scheme for AML is the World Health Organization (WHO) system. According to the WHO criteria, the diagnosis of AML is established by demonstrating involvement of more than 20% of the blood and/or bone marrow by leukemic myeloblasts, except in three forms of acute myeloid leukemia with recurrent genetic abnormalities: t(8;21), inv(16) or t(16;16), and acute promyelocytic leukemia with PML-RARA, in which the presence of the genetic abnormality is diagnostic irrespective of blast percent.
  • #17 Acute myeloid leukaemia (AML) tests | Blood Cancer UK
    https://bloodcancer.org.uk/understanding-blood-cancer/leukaemia/acute-myeloid-leukaemia/aml-symptoms-diagnosis/tests/
    AML is usually diagnosed if the number of myeloid blasts (immature blood cells) in your bone marrow is 20% or more. […] Tests can be done on a sample of your blood or bone marrow, to look for any changes (mutations) in the chromosomes or DNA in the abnormal cells. Sometimes these results can confirm a diagnosis of AML. […] Immunophenotyping is a test that looks at which proteins (markers) are on the surface of or inside the abnormal cells. This can help to tell doctors whether you have AML. […] If you are diagnosed with AML, youll have a general health check. This will help work out your risk of side effects from treatment, and whether high-intensity or low-intensity treatment might be best. […] Not everyone needs a stem cell transplant, but if your doctor thinks there is a chance you might need one in the future, they might talk to you about tissue typing.
  • #18 Tests for acute myeloid leukaemia (AML) | Cancer Research UK
    https://www.cancerresearchuk.org/about-cancer/acute-myeloid-leukaemia-aml/getting-diagnosed/tests-acute-myeloid-leukaemia
    You usually have several tests to check for AML. This might include some or all of the following: blood tests, bone marrow tests, a lumbar puncture, testing for changes to genes and chromosomes, a chest x-ray, scans. […] If they suspect AML, you’ll have a full blood count (FBC) to check for changes in your levels of blood cells. […] You have a bone marrow test to confirm you have AML. You also have it to find out which type of AML you have, check for changes in the chromosomes and genes, monitor how well you are responding to treatment. […] Doctors look for certain proteins (antigens) in your blood sample. These antigens are on the surface of leukaemia cells. This test is called immunophenotyping. […] You have several different tests that look for changes on the surface of the leukaemia cells, in the genes and chromosomes of the leukaemia cells.
  • #19 Diagnosing Acute Myeloid Leukemia | NYU Langone Health
    https://nyulangone.org/conditions/acute-myeloid-leukemia/diagnosis
    NYU Langone specialists take a sample of your blood to check the levels of white and red blood cells and platelets. […] After injecting a local anesthetic to numb the lower back, he or she inserts two needles into the pelvic bone and removes a sample of bone marrow fluid with one and a tissue sample with the other. […] The pathologist also examines these cells using an instrument called a flow cytometer. […] If your doctor suspects the cancer has spread to the central nervous system, he or she may perform a lumbar puncture. […] Knowing whether the cancer cells carry any abnormal chromosomes enables your doctor to better determine your prognosis. […] This testing is done to look for genetic mutations, or changes, that help determine the appropriate treatment. […] These genetic mistakes can cause the cells to act aggressively, and analyzing them can help doctors determine the severity of the condition and its treatment. […] In this test, bone marrow samples retrieved during bone marrow aspiration are tested in a laboratory. […] Molecular studies are laboratory tests that identify changes in DNA.
  • #20 Acute Myeloid Leukemia: Diagnosis and Evaluation by Flow Cytometry
    https://www.mdpi.com/2072-6694/16/22/3855
    Acute myeloid leukemia (AML) is a heterogeneous group of diseases characterized by the clonal proliferation of immature myeloid precursors. The diagnosis and classification involve a comprehensive approach to integrate clinical, morphologic, immunophenotypic, and genetic criteria. Flow cytometry plays an indispensable role in evaluating AML. The correlation between immunophenotypic profiles and specific genetic aberrations in AML is increasingly being recognized, helping to guide more detailed diagnostic tests and immediate treatment choices. Recent advancements include the use of machine learning techniques to enhance the flow cytometry data analysis. These technological advances are now enabling automated diagnoses and the prediction of genetic mutations. […] Diagnosing and classifying AML necessitate an integrated approach combining clinical, morphologic, immunophenotypic, and genetic data. Multiparametric flow cytometry is widely available across laboratories and has become indispensable in the evaluation of hematologic conditions. In the diagnosis of AML, flow cytometry is essential for identifying immunophenotypic aberrancies of leukemic blasts and determining lineage. Emerging evidence has demonstrated a strong correlation of immunophenotypic features in a subset of AML with recurrent gene fusions and gene mutations, facilitating prompt subclassification and therapeutic decision-making.
  • #21 Acute Myeloid Leukemia (AML) Workup: Approach Considerations, Blood Studies, Flow Cytometry (Immunophenotyping)
    https://emedicine.medscape.com/article/197802-workup
    The workup for acute myeloid leukemia (AML) includes the following: Blood tests, Bone marrow aspiration and biopsy (the definitive diagnostic tests), Analysis of genetic abnormalities, Diagnostic imaging. […] Immunophenotyping by flow cytometry of bone marrow or peripheral blood samples can be used to help distinguish AML from acute lymphocytic leukemia (ALL) and further classify the subtype of AML. Cytogenetic studies performed on bone marrow provide important prognostic information and can guide treatment by confirming a diagnosis of acute promyelocytic leukemia (APL). […] Cytogenetic studies performed on bone marrow provide important prognostic information. Guidelines from an international expert panel, on behalf of the European LeukemiaNet (ELN), recommend risk stratification for patients with AML on the basis of genetic abnormalities.
  • #22 Acute Myeloid Leukemia Treatment – NCI
    https://www.cancer.gov/types/leukemia/patient/adult-aml-treatment-pdq
    Tests that examine the blood and bone marrow are used to diagnose AML. […] In addition to asking about your personal and family health history and doing a physical exam, your doctor may perform the following tests and procedures: Complete blood count (CBC) checks a sample of blood for: the number of red blood cells and platelets, the number and type of white blood cells, the amount of hemoglobin (the protein that carries oxygen) in the red blood cells, the amount of hematocrit (whole blood that is made up of red blood cells). […] Bone marrow aspiration and biopsy is the removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for signs of cancer. […] Cytogenetic analysis checks the chromosomes of cells in a blood or bone marrow sample for changes, such as broken, missing, rearranged, or extra chromosomes. Changes in certain chromosomes may be a sign of cancer. Cytogenetic analysis is used to help diagnose cancer, plan treatment, or find out how well treatment is working.
  • #23 Acute Myeloid Leukemia (AML) Workup: Approach Considerations, Blood Studies, Flow Cytometry (Immunophenotyping)
    https://emedicine.medscape.com/article/197802-workup
    Genetic abnormalities that convey favorable risk are as follows: t(8;21)(q22;q22.1); RUNX1-RUNX1T1, inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11, Mutated NPM1 without FLT3-ITD or with low allelic ratio ( 0.5) FLT3-ITD, Biallelic mutated CEBPA. […] Genetic abnormalities that convey adverse risk are as follows: t(6;9)(p23;q34.1); DEK-NUP214, t(v;11q23.3); KMT2A rearranged, t(9;22)(q34.1;q11.2); BCR-ABL1, inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2,MECOM(EVI1), 5 or del(5q); 7; 17/abn(17p), Complex karyotype or monosomal karyotype, Wild-type NPM1 and high allelic ratio FLT3-ITD, Mutated RUNX1, Mutated ASXL1, Mutated TP53. […] Cytogenetic studies are also useful for confirming a diagnosis of APL, which bears the t(15;17) chromosome abnormality and is treated differently. […] Several molecular abnormalities that are not detected with routine cytogenetics have been shown to have prognostic importance in patients with AML. The bone marrow should be evaluated at least with the commercially available tests. Patients with APL should have their marrow evaluated for the PML/RARa genetic rearrangement. When possible, the bone marrow should be evaluated for Fms-like tyrosine kinase 3 (FLT3) and nucleophosmin (NPM1) mutations. […] FLT3 is the most commonly mutated gene in cases of AML and is constitutively activated in one third of AML cases. […] Analysis of FLT3 is commercially available.
  • #24 Tests for Acute Myeloid Leukaemia (AML) | Cancer Council NSW
    https://www.cancercouncil.com.au/acute-myeloid-leukaemia/diagnosis/tests/
    Most cancers and leukaemias develop because of gene changes on a particular cell. Genomic testing looks for these changes. […] The results help doctors diagnose the subtype of AML, guide treatment and monitor the response to therapy. […] A test called FISH (fluorescence in situ hybridisation) may be used to look for abnormal chromosomes (e.g. the Philadelphia chromosome).
  • #25 Tests for acute myeloid leukaemia (AML) | Cancer Research UK
    https://www.cancerresearchuk.org/about-cancer/acute-myeloid-leukaemia-aml/getting-diagnosed/tests-acute-myeloid-leukaemia
    FISH is another type of test looking at gene and chromosome changes. The FISH technique uses a special fluorescent dye. This makes it easier to see particular gene and chromosome changes. […] This is a different test to pick up gene abnormalities. Genes are coded messages made of DNA that tell cells how to behave. […] Lumbar puncture is a test to check whether leukaemia cells have spread to the fluid that circulates around the brain and spinal cord. […] You might have a chest x-ray to check for signs of infection if you have symptoms. […] You might have an ultrasound to look for changes in your lymph nodes, liver or spleen. […] You might have a CT scan to look for swollen lymph nodes and infections. […] You have tissue typing tests if your doctor thinks that a stem cell or bone marrow transplant might be a possible treatment for you. […] The results of the tests you have help your specialist build up a picture of how your AML is likely to behave. This helps guide the treatment plan they recommend.
  • #26 Acute Myeloid Leukemia (AML): Diagnosis 
    https://healthlibrary.brighamandwomens.org/Library/Wellness/Dental/34,BAMLD1A
    Fluorescence in situ hybridization (FISH). This test is another way to look for changes in chromosomes. The cells in the sample are stained with fluorescent dyes that will only attach to certain parts of chromosomes. The cells are then viewed with a microscope using a special light. This test can find some chromosome changes that can’t be seen with standard cytogenetic testing. It’s also a quicker test. […] Polymerase chain reaction (PCR). This is a very sensitive test that can find even very low levels of leukemia cells in a test sample. It works by increasing the amount of genetic material in the sample so that it can be found. This test can find small levels of chromosome changes that other tests cant find. […] Next generation sequencing. This is a broad term to describe multiple different sequencing methods used to find abnormal cancer cells. Lab tests are used to look at the order (sequence) of DNA and RNA cells. Comparisons can then be made in the order of cancer cells with those of normal cells to find genetic changes. These tests can help determine prognosis and types of treatment used.
  • #27 Azthena logo with the word Azthena
    https://www.news-medical.net/health/Acute-Myeloid-Leukemia-Diagnosis.aspx
    Recognizing these changes can help identify certain types of AML and predict the possible outcome of the cancer. […] FISH can be used to look for specific changes in chromosomes. It can be used on blood or bone marrow samples. […] This is yet another DNA analysis test that can find some chromosome changes too small to be seen under a microscope.
  • #28 Acute Myeloid Leukemia Treatment – NCI
    https://www.cancer.gov/types/leukemia/patient/adult-aml-treatment-pdq
    Molecular testing checks for certain genes, proteins, or other molecules in a sample of blood or bone marrow. Molecular tests also check for certain changes in a gene or chromosome that may cause or affect the chance of developing AML. […] Immunophenotyping uses antibodies to identify cancer cells based on the types of antigens or markers on the surface of the cells. This test is used to help diagnose specific types of leukemia. […] Reverse transcription polymerase chain reaction test (RT-PCR) measures the amount of a genetic substance called mRNA made by a specific gene. […] After AML has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body. […] The following tests and procedures may be used to determine if the leukemia has spread outside the blood and bone marrow: Lumbar puncture is a procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. […] CT scan (CAT scan) uses a computer linked to an x-ray machine to make a series of detailed pictures of areas inside the body, such as the abdomen.
  • #29 Acute Myeloid Leukemia Treatment (PDQ®) – NCI
    https://www.cancer.gov/types/leukemia/hp/adult-aml-treatment-pdq
    Approximately half of patients with AML will harbor chromosomal abnormalities; therefore, conventional cytogenetic analysis remains mandatory in the evaluation of suspected AML. […] With the routine use of molecular diagnostics, the identification of recurrent somatic pathogenic variants in NPM1, FLT3, CEPBA, RUNX1, and other genes has become a routine part of determining prognosis. […] Cytogenetic and molecular analyses provide the strongest prognostic information available, predicting outcome of both remission induction and consolidation therapy. […] Cytogenic and molecular information has been combined to form distinct prognostic groups. […] The rates of new cases of AML have not changed significantly over the last decade, age-adjusted death rates have dropped. […] Treatment should be sufficiently aggressive to achieve complete remission (CR) because partial remission offers no substantial survival benefit. […] Approximately 60% to 70% of adults with AML can be expected to attain CR status after appropriate induction therapy. […] More than 25% of adults with AML (about 45% of those who attain CR) can be expected to survive 3 or more years and may be cured.
  • #30 Acute Myeloid Leukemia – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK507875/
    Acute myeloid leukemia (AML) is a rapidly progressing myeloid neoplasm characterized by the clonal expansion of primitive hematopoietic stem cells, known as blasts, in the bone marrow. […] The recent consensus guidelines established by the European LeukemiaNET (ELN) in 2022 have emphasized molecular characterization and risk stratification for individuals with AML, providing updated data on these aspects. […] This activity explores the appropriate timing for considering this condition in the differential diagnosis and outlines proper evaluation methods. […] Identify characteristic clinical features and laboratory findings indicative of acute myeloid leukemia during patient evaluation. […] Implement evidence-based diagnostic and therapeutic strategies for acute myeloid leukemia management in accordance with established guidelines.
  • #31 Acute Myeloid Leukemia (AML) Workup: Approach Considerations, Blood Studies, Flow Cytometry (Immunophenotyping)
    https://emedicine.medscape.com/article/197802-workup
    Genetic abnormalities that convey favorable risk are as follows: t(8;21)(q22;q22.1); RUNX1-RUNX1T1, inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11, Mutated NPM1 without FLT3-ITD or with low allelic ratio ( 0.5) FLT3-ITD, Biallelic mutated CEBPA. […] Genetic abnormalities that convey adverse risk are as follows: t(6;9)(p23;q34.1); DEK-NUP214, t(v;11q23.3); KMT2A rearranged, t(9;22)(q34.1;q11.2); BCR-ABL1, inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2,MECOM(EVI1), 5 or del(5q); 7; 17/abn(17p), Complex karyotype or monosomal karyotype, Wild-type NPM1 and high allelic ratio FLT3-ITD, Mutated RUNX1, Mutated ASXL1, Mutated TP53. […] Cytogenetic studies are also useful for confirming a diagnosis of APL, which bears the t(15;17) chromosome abnormality and is treated differently. […] Several molecular abnormalities that are not detected with routine cytogenetics have been shown to have prognostic importance in patients with AML. The bone marrow should be evaluated at least with the commercially available tests. Patients with APL should have their marrow evaluated for the PML/RARa genetic rearrangement. When possible, the bone marrow should be evaluated for Fms-like tyrosine kinase 3 (FLT3) and nucleophosmin (NPM1) mutations. […] FLT3 is the most commonly mutated gene in cases of AML and is constitutively activated in one third of AML cases. […] Analysis of FLT3 is commercially available.
  • #32 Acute Myeloid Leukemia (AML) Workup: Approach Considerations, Blood Studies, Flow Cytometry (Immunophenotyping)
    https://emedicine.medscape.com/article/197802-workup
    Genetic abnormalities that convey favorable risk are as follows: t(8;21)(q22;q22.1); RUNX1-RUNX1T1, inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11, Mutated NPM1 without FLT3-ITD or with low allelic ratio ( 0.5) FLT3-ITD, Biallelic mutated CEBPA. […] Genetic abnormalities that convey adverse risk are as follows: t(6;9)(p23;q34.1); DEK-NUP214, t(v;11q23.3); KMT2A rearranged, t(9;22)(q34.1;q11.2); BCR-ABL1, inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2,MECOM(EVI1), 5 or del(5q); 7; 17/abn(17p), Complex karyotype or monosomal karyotype, Wild-type NPM1 and high allelic ratio FLT3-ITD, Mutated RUNX1, Mutated ASXL1, Mutated TP53. […] Cytogenetic studies are also useful for confirming a diagnosis of APL, which bears the t(15;17) chromosome abnormality and is treated differently. […] Several molecular abnormalities that are not detected with routine cytogenetics have been shown to have prognostic importance in patients with AML. The bone marrow should be evaluated at least with the commercially available tests. Patients with APL should have their marrow evaluated for the PML/RARa genetic rearrangement. When possible, the bone marrow should be evaluated for Fms-like tyrosine kinase 3 (FLT3) and nucleophosmin (NPM1) mutations. […] FLT3 is the most commonly mutated gene in cases of AML and is constitutively activated in one third of AML cases. […] Analysis of FLT3 is commercially available.
  • #33 Acute myelogenous leukemia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/acute-myelogenous-leukemia/diagnosis-treatment/drc-20369115
    Imaging tests make pictures of the body. For AML, imaging tests might make pictures of the brain, if there’s concern that the leukemia cells have spread there. Imaging might include CT or MRI. If there’s concern that the leukemia might have spread to another part of the body, imaging might be done with a positron emission tomography scan, also called a PET scan. […] If you’re diagnosed with AML, you may need further lab tests to determine your AML subtype. These tests include examining your blood and bone marrow for genetic changes and other signs that indicate specific AML subtypes. Currently, there are 15 different subtypes. Your AML subtype helps your healthcare professional determine the best treatment for you.
  • #34 Acute Myeloid Leukemia Treatment – NCI
    https://www.cancer.gov/types/leukemia/patient/adult-aml-treatment-pdq
    Molecular testing checks for certain genes, proteins, or other molecules in a sample of blood or bone marrow. Molecular tests also check for certain changes in a gene or chromosome that may cause or affect the chance of developing AML. […] Immunophenotyping uses antibodies to identify cancer cells based on the types of antigens or markers on the surface of the cells. This test is used to help diagnose specific types of leukemia. […] Reverse transcription polymerase chain reaction test (RT-PCR) measures the amount of a genetic substance called mRNA made by a specific gene. […] After AML has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body. […] The following tests and procedures may be used to determine if the leukemia has spread outside the blood and bone marrow: Lumbar puncture is a procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. […] CT scan (CAT scan) uses a computer linked to an x-ray machine to make a series of detailed pictures of areas inside the body, such as the abdomen.
  • #35 Diagnosing Acute Myeloid Leukemia | NYU Langone Health
    https://nyulangone.org/conditions/acute-myeloid-leukemia/diagnosis
    NYU Langone specialists take a sample of your blood to check the levels of white and red blood cells and platelets. […] After injecting a local anesthetic to numb the lower back, he or she inserts two needles into the pelvic bone and removes a sample of bone marrow fluid with one and a tissue sample with the other. […] The pathologist also examines these cells using an instrument called a flow cytometer. […] If your doctor suspects the cancer has spread to the central nervous system, he or she may perform a lumbar puncture. […] Knowing whether the cancer cells carry any abnormal chromosomes enables your doctor to better determine your prognosis. […] This testing is done to look for genetic mutations, or changes, that help determine the appropriate treatment. […] These genetic mistakes can cause the cells to act aggressively, and analyzing them can help doctors determine the severity of the condition and its treatment. […] In this test, bone marrow samples retrieved during bone marrow aspiration are tested in a laboratory. […] Molecular studies are laboratory tests that identify changes in DNA.
  • #36 Acute Myeloid Leukemia Treatment – NCI
    https://www.cancer.gov/types/leukemia/patient/adult-aml-treatment-pdq
    Molecular testing checks for certain genes, proteins, or other molecules in a sample of blood or bone marrow. Molecular tests also check for certain changes in a gene or chromosome that may cause or affect the chance of developing AML. […] Immunophenotyping uses antibodies to identify cancer cells based on the types of antigens or markers on the surface of the cells. This test is used to help diagnose specific types of leukemia. […] Reverse transcription polymerase chain reaction test (RT-PCR) measures the amount of a genetic substance called mRNA made by a specific gene. […] After AML has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body. […] The following tests and procedures may be used to determine if the leukemia has spread outside the blood and bone marrow: Lumbar puncture is a procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. […] CT scan (CAT scan) uses a computer linked to an x-ray machine to make a series of detailed pictures of areas inside the body, such as the abdomen.
  • #37 Acute Myeloid Leukemia (AML) – Blood Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/blood-disorders/leukemias/acute-myeloid-leukemia-aml
    Blood tests and bone marrow examination are needed for diagnosis. […] The diagnosis of AML is similar to the diagnosis of acute lymphoblastic leukemia. A complete blood count is done, including measurement of the numbers of each of the types of white blood cells. A bone marrow examination is almost always done to confirm the diagnosis and to distinguish AML from other types of leukemia. The immature white blood cells (blasts) are tested for chromosome abnormalities, which helps doctors determine the type of the leukemia and what drugs to use to treat it. […] Tests of blood, including for tumor markers and electrolyte abnormalities, and urine are also done to detect other abnormalities related to AML. […] Imaging tests may also be needed. Computed tomography (CT) or magnetic resonance imaging (MRI) is done if the person has symptoms that suggest leukemia cells in the brain. CT of the chest may be done to check for leukemia cells in the area around the lungs. CT, MRI, or ultrasonography of the abdomen may be done to determine whether internal organs are enlarged. An echocardiogram (ultrasound of the heart) may be done before starting chemotherapy because chemotherapy drugs sometimes affect the heart.
  • #38 Acute Myeloid Leukemia Treatment – NCI
    https://www.cancer.gov/types/leukemia/patient/adult-aml-treatment-pdq
    Molecular testing checks for certain genes, proteins, or other molecules in a sample of blood or bone marrow. Molecular tests also check for certain changes in a gene or chromosome that may cause or affect the chance of developing AML. […] Immunophenotyping uses antibodies to identify cancer cells based on the types of antigens or markers on the surface of the cells. This test is used to help diagnose specific types of leukemia. […] Reverse transcription polymerase chain reaction test (RT-PCR) measures the amount of a genetic substance called mRNA made by a specific gene. […] After AML has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body. […] The following tests and procedures may be used to determine if the leukemia has spread outside the blood and bone marrow: Lumbar puncture is a procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. […] CT scan (CAT scan) uses a computer linked to an x-ray machine to make a series of detailed pictures of areas inside the body, such as the abdomen.
  • #39 Acute myelogenous leukemia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/acute-myelogenous-leukemia/diagnosis-treatment/drc-20369115
    Imaging tests make pictures of the body. For AML, imaging tests might make pictures of the brain, if there’s concern that the leukemia cells have spread there. Imaging might include CT or MRI. If there’s concern that the leukemia might have spread to another part of the body, imaging might be done with a positron emission tomography scan, also called a PET scan. […] If you’re diagnosed with AML, you may need further lab tests to determine your AML subtype. These tests include examining your blood and bone marrow for genetic changes and other signs that indicate specific AML subtypes. Currently, there are 15 different subtypes. Your AML subtype helps your healthcare professional determine the best treatment for you.
  • #40 Acute Myeloid Leukemia (AML) – Blood Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/blood-disorders/leukemias/acute-myeloid-leukemia-aml
    Blood tests and bone marrow examination are needed for diagnosis. […] The diagnosis of AML is similar to the diagnosis of acute lymphoblastic leukemia. A complete blood count is done, including measurement of the numbers of each of the types of white blood cells. A bone marrow examination is almost always done to confirm the diagnosis and to distinguish AML from other types of leukemia. The immature white blood cells (blasts) are tested for chromosome abnormalities, which helps doctors determine the type of the leukemia and what drugs to use to treat it. […] Tests of blood, including for tumor markers and electrolyte abnormalities, and urine are also done to detect other abnormalities related to AML. […] Imaging tests may also be needed. Computed tomography (CT) or magnetic resonance imaging (MRI) is done if the person has symptoms that suggest leukemia cells in the brain. CT of the chest may be done to check for leukemia cells in the area around the lungs. CT, MRI, or ultrasonography of the abdomen may be done to determine whether internal organs are enlarged. An echocardiogram (ultrasound of the heart) may be done before starting chemotherapy because chemotherapy drugs sometimes affect the heart.
  • #41 Acute myelogenous leukemia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/acute-myelogenous-leukemia/diagnosis-treatment/drc-20369115
    Imaging tests make pictures of the body. For AML, imaging tests might make pictures of the brain, if there’s concern that the leukemia cells have spread there. Imaging might include CT or MRI. If there’s concern that the leukemia might have spread to another part of the body, imaging might be done with a positron emission tomography scan, also called a PET scan. […] If you’re diagnosed with AML, you may need further lab tests to determine your AML subtype. These tests include examining your blood and bone marrow for genetic changes and other signs that indicate specific AML subtypes. Currently, there are 15 different subtypes. Your AML subtype helps your healthcare professional determine the best treatment for you.
  • #42 Acute Myeloid Leukemia (AML) – Blood Disorders – Merck Manual Consumer Version
    https://www.merckmanuals.com/home/blood-disorders/leukemias/acute-myeloid-leukemia-aml
    Blood tests and bone marrow examination are needed for diagnosis. […] The diagnosis of AML is similar to the diagnosis of acute lymphoblastic leukemia. A complete blood count is done, including measurement of the numbers of each of the types of white blood cells. A bone marrow examination is almost always done to confirm the diagnosis and to distinguish AML from other types of leukemia. The immature white blood cells (blasts) are tested for chromosome abnormalities, which helps doctors determine the type of the leukemia and what drugs to use to treat it. […] Tests of blood, including for tumor markers and electrolyte abnormalities, and urine are also done to detect other abnormalities related to AML. […] Imaging tests may also be needed. Computed tomography (CT) or magnetic resonance imaging (MRI) is done if the person has symptoms that suggest leukemia cells in the brain. CT of the chest may be done to check for leukemia cells in the area around the lungs. CT, MRI, or ultrasonography of the abdomen may be done to determine whether internal organs are enlarged. An echocardiogram (ultrasound of the heart) may be done before starting chemotherapy because chemotherapy drugs sometimes affect the heart.
  • #43 Acute Myeloid Leukemia – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK507875/
    Select appropriate induction and consolidation therapies tailored to individual patient characteristics and disease risk for patients with acute myeloid leukemia. […] Collaborate with multidisciplinary healthcare teams to develop comprehensive care plans and provide support for patients throughout their acute myeloid leukemia journey. […] Characteristic laboratory findings indicative of auto-tumor lysis, stemming from high tumor burden and rapid cell turnover, often include elevated LDH, uric acid, potassium, and phosphorus levels. […] Collectively, the presence of 20% or more blasts in peripheral blood, as confirmed by immunophenotyping (flow cytometry), is diagnostic of AML. […] Following the confirmation of an AML diagnosis, recommended tests should be ordered, including electrocardiography (ECG) and 2-dimensional (2D) echocardiography, to anticipate potential cardiotoxic effects (eg, from anthracycline therapies).
  • #44 How AML Subtypes Affect Outlook & Treatment | American Cancer Society | American Cancer Society
    https://www.cancer.org/cancer/types/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html
    In both systems, the percentage of blasts (very immature blood cells) in the bone marrow or blood is important in diagnosing AML. […] If the AML cells have certain gene or chromosome changes (see below), usually at least 10% of the cells in the bone marrow or blood must be blasts. […] If there are no major gene or chromosome changes in the AML cells, usually at least 20% of the cells in the bone marrow or blood must be blasts to diagnose AML. […] The classification of AML has become more complex over time, as doctors have learned more about the genetic changes inside AML cells. […] The International Consensus Classification (ICC) can also be used to determine the AML subtype. […] Like the WHO classification, its based mainly on the gene or chromosome changes in the AML cells, but other factors can be important, too.
  • #45 Acute Myeloid Leukemia: Diagnosis and Evaluation by Flow Cytometry
    https://www.mdpi.com/2072-6694/16/22/3855
    Flow cytometry is a powerful tool for the diagnosis of AML and post-therapy monitoring. The WHO-HAEM5 and ICC include immunophenotypic characteristics in the diagnostic criteria of AML, along with cytogenetic and molecular data. Flow cytometry is essential for identifying and enumerating leukemic blasts, assigning lineage, and detecting aberrant immunophenotypic features, which are crucial for the diagnosis and subclassification of acute leukemia and monitoring the measurable residual disease (MRD) post treatment. The major advantages of flow cytometry include the broad instrument and assay availability, general applicability, cost-effectiveness, and rapid turnaround time for prompt therapeutic decision-making. […] The updated fifth edition WHO Classification (WHO-HAEM5) and the newly introduced International Consensus Classification (ICC), as well as the European LeukemiaNet (ELN) recommendations in 2022, require the integration of immunophenotypic, cytogenetic, and molecular data, alongside clinical and morphologic findings, for accurate diagnosis, prognostication, and guiding therapeutic strategies in AML. Flow cytometry offers rapid and sensitive immunophenotyping through a multiparametric approach and is a pivotal laboratory tool for the classification of AML, identification of therapeutic targets, and monitoring of measurable residual disease (MRD) post therapy. The association of immunophenotypic features and recurrent genetic abnormalities has been recognized and applied in informing further diagnostic evaluation and immediate therapeutic decision-making. Recently, the evolving role of machine learning models in assisting flow cytometric data analysis for the automated diagnosis and prediction of underlying genetic alterations has been illustrated.
  • #46 Acute myelogenous leukemia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/acute-myelogenous-leukemia/diagnosis-treatment/drc-20369115
    Imaging tests make pictures of the body. For AML, imaging tests might make pictures of the brain, if there’s concern that the leukemia cells have spread there. Imaging might include CT or MRI. If there’s concern that the leukemia might have spread to another part of the body, imaging might be done with a positron emission tomography scan, also called a PET scan. […] If you’re diagnosed with AML, you may need further lab tests to determine your AML subtype. These tests include examining your blood and bone marrow for genetic changes and other signs that indicate specific AML subtypes. Currently, there are 15 different subtypes. Your AML subtype helps your healthcare professional determine the best treatment for you.
  • #47 How AML Subtypes Affect Outlook & Treatment | American Cancer Society | American Cancer Society
    https://www.cancer.org/cancer/types/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html
    The subtype of AML can be important in helping to determine a person’s prognosis (outlook). […] Prognostic factors help doctors determine a person’s risk of the leukemia coming back after treatment, and therefore if they should get more or less intensive treatment. […] AML cells can have many kinds of chromosome changes, some of which can affect a persons prognosis (outlook). […] People whose leukemia cells have certain gene mutations may have a better or worse outlook. […] How well (and how quickly) the leukemia responds to treatment also affects long-term prognosis.
  • #48 Acute Myeloid Leukemia Treatment – NCI
    https://www.cancer.gov/types/leukemia/patient/adult-aml-treatment-pdq
    Adult acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes a large number of abnormal blood cells. […] Tests that examine the blood and bone marrow are used to diagnose AML. […] After AML has been diagnosed, tests are done to find out if the cancer has spread to other parts of the body. […] Signs and symptoms of AML include fever, feeling tired, and easy bruising or bleeding. […] There are different subtypes of AML. […] Certain factors affect prognosis (chance of recovery) and treatment options. […] The prognosis and treatment options for AML depend on: the person’s age, whether the leukemia has spread to the CNS, whether the patient has a systemic infection at the time of diagnosis, whether the patient has a very high white blood cell count at the time of diagnosis, the subtype of AML, whether the patient received chemotherapy or radiation therapy in the past to treat a different cancer, whether there is a history of a blood disorder such as myelodysplastic syndrome, whether the cancer has been treated before or recurred (come back).
  • #49 How AML Subtypes Affect Outlook & Treatment | American Cancer Society | American Cancer Society
    https://www.cancer.org/cancer/types/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html
    The subtype of AML can be important in helping to determine a person’s prognosis (outlook). […] Prognostic factors help doctors determine a person’s risk of the leukemia coming back after treatment, and therefore if they should get more or less intensive treatment. […] AML cells can have many kinds of chromosome changes, some of which can affect a persons prognosis (outlook). […] People whose leukemia cells have certain gene mutations may have a better or worse outlook. […] How well (and how quickly) the leukemia responds to treatment also affects long-term prognosis.
  • #50 Acute Myeloid Leukemia Treatment (PDQ®) – NCI
    https://www.cancer.gov/types/leukemia/hp/adult-aml-treatment-pdq
    Approximately half of patients with AML will harbor chromosomal abnormalities; therefore, conventional cytogenetic analysis remains mandatory in the evaluation of suspected AML. […] With the routine use of molecular diagnostics, the identification of recurrent somatic pathogenic variants in NPM1, FLT3, CEPBA, RUNX1, and other genes has become a routine part of determining prognosis. […] Cytogenetic and molecular analyses provide the strongest prognostic information available, predicting outcome of both remission induction and consolidation therapy. […] Cytogenic and molecular information has been combined to form distinct prognostic groups. […] The rates of new cases of AML have not changed significantly over the last decade, age-adjusted death rates have dropped. […] Treatment should be sufficiently aggressive to achieve complete remission (CR) because partial remission offers no substantial survival benefit. […] Approximately 60% to 70% of adults with AML can be expected to attain CR status after appropriate induction therapy. […] More than 25% of adults with AML (about 45% of those who attain CR) can be expected to survive 3 or more years and may be cured.
  • #51 Acute Myeloid Leukemia (AML): Symptoms, Treatment & Prognosis
    https://my.clevelandclinic.org/health/diseases/6212-acute-myeloid-leukemia-aml
    Currently, allogeneic stem cell transplantation is the only way to cure acute myeloid leukemia. Depending on your situation, your provider may recommend stem cell transplantation as your first AML treatment or if you have AML that comes back within 12 months. […] Overall, an estimated 50% to 80% of people with acute myeloid leukemia achieve complete remission after treatment. Complete remission happens more often in children and people under age 60. Remission may last for months or years.
  • #52 Acute Myeloid Leukemia (AML): Tests After Diagnosis 
    https://healthlibrary.ecuhealth.org/yourfamily/men/34,BAMLD3
    After a diagnosis of acute myeloid leukemia (AML), you will likely need more tests. These tests help your healthcare providers learn more about the leukemia and how to treat it. Some of these tests might also be used to see if treatment is working. Or they can be used later to look for signs that the leukemia might be coming back. If you have any questions about these or other tests, be sure to talk with your healthcare team. […] The tests you may have include: Spinal tap (lumbar puncture), Blood tests, Bone marrow biopsy, Imaging tests. […] Blood may be taken to test in a lab. Blood tests can measure the numbers of the different types of cells in your blood, such as white blood cells and platelets. The levels of these should go back to normal if treatment is working. […] A biopsy is a small amount of tissue thats taken and checked in a lab. This procedure is done by taking small amounts of bone marrow. This is the thick, spongy liquid in the center of your bones. Bone marrow samples are usually taken from the back of the hip (pelvic) bone.
  • #53 Acute Myeloid Leukemia (AML): Tests After Diagnosis 
    https://healthlibrary.ecuhealth.org/library/TestsProcedures/LabTests/34,BAMLD3
    After a diagnosis of acute myeloid leukemia (AML), you will likely need more tests. These tests help your healthcare providers learn more about the leukemia and how to treat it. Some of these tests might also be used to see if treatment is working. Or they can be used later to look for signs that the leukemia might be coming back. If you have any questions about these or other tests, be sure to talk with your healthcare team. […] The tests you may have include: […] Blood tests can measure the numbers of the different types of cells in your blood, such as white blood cells and platelets. The levels of these should go back to normal if treatment is working. […] Bone marrow biopsy samples can be tested for leukemia cells. This can help see how well treatment is working. […] AML is a blood cancer that typically spreads throughout the body in the blood. It seldom forms tumors. This means imaging tests aren’t often needed to help find the extent of the leukemia. But after AML is diagnosed, these tests might be used to look for other problems, such as swollen organs or signs of infection in the body. […] Your healthcare provider will talk with you about which tests you’ll have. Make sure to get ready for the tests as instructed. Ask questions and talk about any concerns you have.
  • #54 Acute Myeloid Leukemia – AML | Choose the Right Test
    https://arupconsult.com/content/acute-myeloid-leukemia
    MRD, also referred to as measurable residual disease, refers to small populations of leukemic cells that remain after treatment. The detection of MRD may be useful in determining response, remission, or relapse; in relapse risk assessment; in prognosis; in treatment decision-making; and as a surrogate endpoint in clinical trials. […] MRD testing is recommended after initial induction and before stem cell transplantation and may be performed at other times, depending on the specific treatment administered.
  • #55 Acute Myeloid Leukemia (AML): Tests After Diagnosis | UMass Memorial Health
    https://www.ummhealth.org/health-library/acute-myeloid-leukemia-aml-tests-after-diagnosis
    After a diagnosis of acute myeloid leukemia (AML), you will likely need more tests. These tests help your healthcare providers learn more about the leukemia and how to treat it. […] The tests you may have include: […] Blood tests can measure the numbers of the different types of cells in your blood, such as white blood cells and platelets. The levels of these should go back to normal if treatment is working. […] Bone marrow biopsy samples can be tested for leukemia cells. This can help see how well treatment is working. […] AML is a blood cancer that typically spreads throughout the body in the blood. It seldom forms tumors. This means imaging tests aren’t often needed to help find the extent of the leukemia. […] Your healthcare provider will talk with you about which tests you’ll have. Make sure to get ready for the tests as instructed. Ask questions and talk about any concerns you have.
  • #56 Acute Myeloid Leukemia Diagnosis | MD Anderson Cancer Center
    https://www.mdanderson.org/cancer-types/acute-myeloid-leukemia/acute-myeloid-leukemia-diagnosis.html
    In untreated AML, the disease is newly diagnosed. It has not been treated except to relieve signs and symptoms such as fever, bleeding, or pain, and the following are true: The complete blood count is abnormal. At least 20% of the cells in the bone marrow are blasts (leukemia cells) or there are certain gene changes. There are signs or symptoms of leukemia. […] In AML in remission, the disease has been treated and the following are true: The complete blood count is normal. Less than 5% of the cells in the bone marrow are blasts (leukemia cells). There are no signs or symptoms of leukemia in the brain and spinal cord or elsewhere in the body. […] After treatment with chemotherapy, some patients with newly diagnosed AML will not go into remission. This is called refractory cancer. In contrast, relapsed or recurrent AML is cancer that has recurred (come back) after remission.
  • #57 Azthena logo with the word Azthena
    https://www.news-medical.net/health/Acute-Myeloid-Leukemia-Diagnosis.aspx
    In order for a patient to be considered to be in remission after treatment, the blast percentage in the bone marrow must be less than 5%. […] These tests include staining the leukemia cells with special dyes. For example, some of these stains cause the granules of most AML cells to appear as black spots under the microscope, but it does not cause ALL cells to change color. This helps in differentiating between the cancers. […] Those with AML may need to undergo imaging studies like MRI scans and CT scans to check for spread to major organs like heart, lungs, brain and liver. […] This helps in assessing the cells from the bone marrow and blood samples. These tests are helpful in determining the exact type of leukemia. […] This involves identifying the genetic blueprints of the cancer cells. The leukemia cells atypical genetic makeup that can be identified using these tests. Identifications of the genetic abnormalities help in determining treatment.
  • #58 Acute Myeloid Leukemia (AML): Symptoms, Treatment & Prognosis
    https://my.clevelandclinic.org/health/diseases/6212-acute-myeloid-leukemia-aml
    Currently, allogeneic stem cell transplantation is the only way to cure acute myeloid leukemia. Depending on your situation, your provider may recommend stem cell transplantation as your first AML treatment or if you have AML that comes back within 12 months. […] Overall, an estimated 50% to 80% of people with acute myeloid leukemia achieve complete remission after treatment. Complete remission happens more often in children and people under age 60. Remission may last for months or years.
  • #59 Acute Myeloid Leukemia – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK507875/
    Acute myeloid leukemia (AML) is a rapidly progressing myeloid neoplasm characterized by the clonal expansion of primitive hematopoietic stem cells, known as blasts, in the bone marrow. […] The recent consensus guidelines established by the European LeukemiaNET (ELN) in 2022 have emphasized molecular characterization and risk stratification for individuals with AML, providing updated data on these aspects. […] This activity explores the appropriate timing for considering this condition in the differential diagnosis and outlines proper evaluation methods. […] Identify characteristic clinical features and laboratory findings indicative of acute myeloid leukemia during patient evaluation. […] Implement evidence-based diagnostic and therapeutic strategies for acute myeloid leukemia management in accordance with established guidelines.
  • #60 Acute Myeloid Leukemia (AML) Diagnosis | LLS.org
    https://www.lls.org/leukemia/acute-myeloid-leukemia/diagnosis
    An accurate diagnosis of the type of leukemia is important. The exact diagnosis helps the doctor to estimate how the disease will progress and determine the appropriate treatment. […] Diagnosing acute myeloid leukemia (AML) and your AML subtype usually involves a series of tests. Some of these tests may be repeated during and after therapy to measure the effects of treatment. […] Blood and bone marrow tests are used to diagnose AML and the AML subtype. A change in the number and appearance of blood cells helps to make the diagnosis. […] Your doctor will work with a hematopathologist to confirm the diagnosis. For a person to be diagnosed with AML, generally 20 percent or more of the cells in the bone marrow or blood must be myeloblasts. […] Chromosomal changes and genetic mutations are an important prognostic factor for predicting remission rates, relapse risks and survival outcomes. However, not all patients have a chromosomal abnormality, and patients may have different gene mutations from other AML patients. Your doctor will perform a molecular analysis on your cells to identify specific genetic changes.
  • #61 Acute Myeloid Leukemia – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK507875/
    All induction regimens discussed in forthcoming sections are potentially toxic to the bone marrow and can induce cytopenias and renal failure, particularly in the setting of either auto-tumor lysis, as discussed earlier, or TLS following chemotherapy. […] Notably, before initiating induction therapy, it is crucial to involve bone marrow transplant (BMT) specialists early, particularly for patients with intermediate- or high-risk disease, according to the ELN 2022 criteria mentioned earlier. […] Induction therapy represents the standard of care for all patients with AML, and decisions regarding the selection of induction chemotherapy should not be solely based on age. […] In young, fit individuals undergoing a 7+3 or FLAG-based induction regimen, a bone marrow biopsy should ideally be performed after induction therapy around the time of peripheral count recovery, particularly when the absolute neutrophil count exceeds 1000/L and platelet count exceeds 100 K/L with no blasts present.
  • #62 Acute Myeloid Leukemia Treatment (PDQ®) – NCI
    https://www.cancer.gov/types/leukemia/hp/adult-aml-treatment-pdq
    Approximately half of patients with AML will harbor chromosomal abnormalities; therefore, conventional cytogenetic analysis remains mandatory in the evaluation of suspected AML. […] With the routine use of molecular diagnostics, the identification of recurrent somatic pathogenic variants in NPM1, FLT3, CEPBA, RUNX1, and other genes has become a routine part of determining prognosis. […] Cytogenetic and molecular analyses provide the strongest prognostic information available, predicting outcome of both remission induction and consolidation therapy. […] Cytogenic and molecular information has been combined to form distinct prognostic groups. […] The rates of new cases of AML have not changed significantly over the last decade, age-adjusted death rates have dropped. […] Treatment should be sufficiently aggressive to achieve complete remission (CR) because partial remission offers no substantial survival benefit. […] Approximately 60% to 70% of adults with AML can be expected to attain CR status after appropriate induction therapy. […] More than 25% of adults with AML (about 45% of those who attain CR) can be expected to survive 3 or more years and may be cured.
  • #63 Acute myeloid leukaemia (AML) tests | Blood Cancer UK
    https://bloodcancer.org.uk/understanding-blood-cancer/leukaemia/acute-myeloid-leukaemia/aml-symptoms-diagnosis/tests/
    Youll have several tests to confirm whether you have AML or not. AML develops quickly, so if your doctor thinks you might have AML, they will normally do tests very quickly. […] If youre diagnosed with AML, youll have further tests to help plan the right treatment for you. […] A full blood count measures the number of each type of cell in the blood red blood cells, white blood cells and platelets. In AML, you can have too many of some blood cells, and not enough of others. […] If youre diagnosed with AML, youll have regular FBCs to monitor your condition. […] A blood film means taking a sample of your blood to look at under a microscope. This allows the doctors to see if you have any leukaemia cells in your blood, and what they look like. […] AML begins in the bone marrow, so checking the bone marrow for leukaemia cells is an important test. This is one of the main tests used to confirm a diagnosis of AML.