Materiały źródłowe

• #1 Diagnosis and Subclassification of Acute Lymphoblastic Leukemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4235437/

  Acute lymphoblastic leukemia (ALL) is a disseminated malignancy of B- or T-lymphoblasts which imposes a rapid and accurate diagnostic process to support an optimal risk-oriented therapy and thus increase the curability rate. The need for a precise diagnostic algorithm is underlined by the awareness that both ALL therapy and related success rates may vary greatly between ALL subsets, from standard chemotherapy in patients with standard-risk ALL, to allotransplantation (SCT) and targeted therapy in high-risk patients and cases expressing suitable biological targets, respectively. This review summarizes how best to identify ALL and the most relevant ALL subsets. […] Current standards for acute lymphoblastic leukemia (ALL) diagnosis integrate the study of cell morphology, immunophenotype and genetics/cytogenetics as detailed in the 2008 WHO classification of lymphoid neoplasms. The classification originally suggested by the FAB group is no longer followed. The FAB classification was clinically useful since it permitted recognition of probable Burkitt lymphoma in leukemic phase, but it has now been replaced by the WHO classification. Lymphoid neoplasms are assigned, in the most recent WHO classification, to two principal categories: neoplasms derived from B- and T-lineage lymphoid precursors and those derived from mature B, T or NK cells. ALL belongs to the first of these major groups, designated B- or T-lymphoblastic leukemia/lymphoma and including three principal categories: B-lymphoblastic leukemia/lymphoma not otherwise specified, B-lymphoblastic leukemia/lymphoma with recurrent cytogenetic alterations and T-lymphoblastic leukemia/lymphoma. The designation of leukemia/lymphoma reflects the principle that these neoplasms should be classified on the basis of their biological and molecular characteristics, regardless of the sites of involvement. The leukemic variant shows diffuse involvement of the peripheral blood and the bone marrow, while lymphoma is confined to nodal or extranodal sites, with no or minimal involvement of the bone marrow. In the leukemic form, by definition, the bone marrow must contain at least 20% blast cells. A purely leukemic presentation is most typical of B-lineage ALL (85%), while cases of T-lineage disease often present with an associated lymphomatous mass in the mediastinum or other sites.

• #2 Leukemia: Symptoms, Signs, Causes, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/4365-leukemia

  Results from routine blood work can alert your healthcare provider that you may have an acute or chronic form of leukemia that requires further testing. Or they may recommend a workup if you have leukemia symptoms. […] Diagnostic exams and tests may include: […] Complete blood count (CBC): This blood test lets your healthcare provider know if you have abnormal levels of red blood cells, white blood cells and platelets. If you have leukemia, you’ll likely have higher than normal counts of white blood cells. […] Bone marrow biopsy (bone marrow aspiration): Your healthcare provider may perform a biopsy if you have an abnormal white blood cell count. A long needle inserted into your bone marrow (usually in your pelvic bone) draws out fluid during the procedure. The fluid sample gets tested in a lab for leukemia cells. A bone marrow biopsy helps determine the percentage of abnormal cells in your bone marrow, confirming a leukemia diagnosis.

• #3 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Acute-Lymphoblastic-Leukemia-Diagnosis.aspx

  Diagnosis of acute lymphoblastic leukemia is based on laboratory and pathological tests. The first test is usually blood tests. If this indicates abnormalities, further tests are ordered. […] First a complete blood count is prescribed. Anemia is commonly detected with haemoglobin levels usually less than 5g/dl. In addition there is thrombocytopenia of varying degrees. This means there is a low platelet count. […] White blood cell (WBC) count is usually high but may be normal or low. The number of neutrophils is usually low. […] When a small sample of blood is smeared onto a glass slide and examined under the microscope there may be presence of blast cells. The blood smear may be normal if the blast cells are confined to the bone marrow. […] In case of an abnormal blood test, bone marrow biopsy is prescribed. The biopsy involves taking a sample of bone marrow using a syringe.

• #4 Acute Lymphoblastic Leukemia (ALL) – Blood Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/blood-disorders/leukemias/acute-lymphoblastic-leukemia-all

  Blood tests and a bone marrow evaluation are usually done. […] Blood tests, such as a complete blood count, can provide the first evidence of ALL. The total number of white blood cells may be decreased, normal, or increased, but the number of red blood cells and the number of platelets are almost always decreased. In addition, very immature white blood cells (blasts) are present in the blood. […] A bone marrow examination is almost always done to confirm the diagnosis and to distinguish ALL from other types of leukemia. Blasts are tested for chromosome abnormalities, which helps doctors determine the exact type of the leukemia and what drugs to use to treat it.

• #5 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Acute-Lymphoblastic-Leukemia-Diagnosis.aspx

  Diagnosis of acute lymphoblastic leukemia is based on laboratory and pathological tests. The first test is usually blood tests. If this indicates abnormalities, further tests are ordered. […] First a complete blood count is prescribed. Anemia is commonly detected with haemoglobin levels usually less than 5g/dl. In addition there is thrombocytopenia of varying degrees. This means there is a low platelet count. […] White blood cell (WBC) count is usually high but may be normal or low. The number of neutrophils is usually low. […] When a small sample of blood is smeared onto a glass slide and examined under the microscope there may be presence of blast cells. The blood smear may be normal if the blast cells are confined to the bone marrow. […] In case of an abnormal blood test, bone marrow biopsy is prescribed. The biopsy involves taking a sample of bone marrow using a syringe.

• #6 Tests for Acute Lymphocytic Leukemia (ALL) | American Cancer Society

  https://www.cancer.org/cancer/types/acute-lymphocytic-leukemia/detection-diagnosis-staging/how-diagnosed.html

  Certain signs and symptoms can suggest that a person might have acute lymphocytic leukemia (ALL), but tests are needed to confirm the diagnosis. […] If your doctor thinks you might have leukemia, they will need to check samples of cells from your blood and bone marrow to be sure. Other tissue and cell samples may also be taken to help guide treatment. […] Blood samples for ALL tests are generally taken from a vein in the arm. […] Most patients with ALL have too many immature white cells called lymphoblasts (or just blasts) in their blood, and not enough red blood cells or platelets. […] Even though these findings may suggest leukemia, the disease usually is not diagnosed without looking at a sample of bone marrow cells. […] These bone marrow tests are used to help diagnose leukemia. They may also be done again later to tell if the leukemia is responding to treatment.

• #7

  https://www.bloodcancerstoday.com/page/leukemia-clinical-presentation-and-diagnosis

  As patients with ALL are typically symptomatic at presentation, a complete blood count (CBC) is usually the first test obtained. This will often reflect anemia and thrombocytopenia. Presentation often includes neutropenia, and 20 to 40% of patients may have profound neutropenia. Alternatively, leukocytosis can also be present at the time of diagnosis. […] Bone marrow aspiration is required for diagnosis of ALL and is considered diagnostic if greater than 25% of the bone marrow cells are a homogenous population of lymphoblasts. Cerebral spinal fluid examination should also be performed to evaluate for leukocytosis and the presence of blast cells, which are poor prognostic indicators. […] Diagnosis of AML can be made when greater than 20% of bone marrow cells consist of a relatively homogenous population of blast cells that appear to be in early stages of myeloid differentiation. The 2016 World Health Organization (WHO) classification of leukemias incorporates morphology, chromosomal abnormalities, and gene mutations in determination of AML subtype, so evaluation for all of these entities is also an essential part of the diagnostic process. Identification of AML subtype allows for both increased prognostic accuracy and improved selection of appropriate treatment.

• #8 Diagnosis – Acute Lymphocytic Leukemia (ALL) – Cancer Institute | Northwell Health

  https://cancer.northwell.edu/cancer-care/acute-lymphocytic-leukemia/diagnosis

  Peripheral blood smear: A blood sample is checked for blast cells (immature cells in the bone marrow), the number and kinds of white blood cells, the number of platelets and changes in the shape of blood cells. […] Bone marrow aspiration and biopsy: A small sample of bone marrow and bone is removed and examined by a pathologist for signs of leukemia. […] Immunophenotyping: This process is used to identify cells based on the types of antigens or markers on the surface of the cell. It can help diagnose specific types of leukemia and lymphoma by comparing the cancer cells to normal cells of the immune system. Flow cytometry and immunohistochemistry are the two tests used to provide optimal immunophenotyping. […] Blood chemistry studies: A blood sample is checked to measure certain substances released into the blood by the organs and tissues in the body. An unusual (either higher or lower than normal) amount can be a sign of disease in the organ or tissue that makes it.

• #9 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Acute-Lymphoblastic-Leukemia-Diagnosis.aspx

  Diagnosis of acute lymphoblastic leukemia is based on laboratory and pathological tests. The first test is usually blood tests. If this indicates abnormalities, further tests are ordered. […] First a complete blood count is prescribed. Anemia is commonly detected with haemoglobin levels usually less than 5g/dl. In addition there is thrombocytopenia of varying degrees. This means there is a low platelet count. […] White blood cell (WBC) count is usually high but may be normal or low. The number of neutrophils is usually low. […] When a small sample of blood is smeared onto a glass slide and examined under the microscope there may be presence of blast cells. The blood smear may be normal if the blast cells are confined to the bone marrow. […] In case of an abnormal blood test, bone marrow biopsy is prescribed. The biopsy involves taking a sample of bone marrow using a syringe.

• #10 Tests for Acute Lymphocytic Leukemia (ALL) | American Cancer Society

  https://www.cancer.org/cancer/types/acute-lymphocytic-leukemia/detection-diagnosis-staging/how-diagnosed.html

  Certain signs and symptoms can suggest that a person might have acute lymphocytic leukemia (ALL), but tests are needed to confirm the diagnosis. […] If your doctor thinks you might have leukemia, they will need to check samples of cells from your blood and bone marrow to be sure. Other tissue and cell samples may also be taken to help guide treatment. […] Blood samples for ALL tests are generally taken from a vein in the arm. […] Most patients with ALL have too many immature white cells called lymphoblasts (or just blasts) in their blood, and not enough red blood cells or platelets. […] Even though these findings may suggest leukemia, the disease usually is not diagnosed without looking at a sample of bone marrow cells. […] These bone marrow tests are used to help diagnose leukemia. They may also be done again later to tell if the leukemia is responding to treatment.

• #11 Acute Lymphocytic Leukemia Diagnosis | MD Anderson Cancer Center

  https://www.mdanderson.org/cancer-types/acute-lymphocytic-leukemia/acute-lymphocytic-leukemia-diagnosis.html

  In a biopsy, suspected cancer cells are retrieved by the care team and studied under a microscope. For leukemia, patients undergo a bone marrow biopsy. This requires taking a sample of bone marrow from the hip with a needle to determine if cancerous cells are present. […] If a patient is diagnosed with leukemia, additional tests can determine whether certain chromosomes or gene mutations are present in the diseased cells, or if they have specific proteins or molecules on their surface. This process, sometimes referred to as molecular profiling, can help doctors determine the patient’s exact type of leukemia and his or her prognosis. […] While leukemia starts in the bone marrow, it may spread to the central nervous system (the brain and spinal cord). This is most common in acute lymphocytic leukemia but can occur in any type of leukemia. […] A lumbar puncture, also known as a spinal tap, can look for this spread by examining the patient’s spinal fluid. […] Doctors may order imaging exams to look for the presence of cancer in different parts of the body.

• #12 Acute Lymphocytic Leukemia (ALL): Diagnosis | UMass Memorial Health

  https://www.ummhealth.org/health-library/acute-lymphocytic-leukemia-all-diagnosis

  If your healthcare provider thinks you might have ALL, you will need certain exams and tests to confirm your diagnosis. […] Your healthcare provider will ask you about your health history, your symptoms, risk factors, and family history of disease. Your healthcare provider will also give you a physical exam. […] These are often the first tests done to diagnose ALL. Blood is taken from your arm or hand with a small needle. The blood is then sent to a lab and tested in many ways. […] A bone marrow biopsy is usually done right after the aspiration. A small piece of bone and marrow is removed with a slightly larger needle that’s pushed down into the bone. The biopsy may also cause some brief pain. The bone marrow is then checked for leukemia cells and tested in many ways. […] This procedure is done to look for leukemia cells in your spinal fluid. It’s done by putting a thin needle in the space between 2 bones of your spine to take out a small amount of fluid. Numbing medicine is used to make it more comfortable for you.

• #13 Acute Lymphoblastic Leukemia (ALL) Workup: Approach Considerations, Routine Laboratory Studies, Radiologic Studies

  https://emedicine.medscape.com/article/207631-workup

  Bone marrow aspiration and biopsy are the definitive diagnostic tests to confirm the diagnosis of leukemia. Immunophenotyping helps to elucidate the subtype. […] The diagnosis of ALL is made when at least 30% lymphoblasts (French-American-British [FAB] classification) or 20% lymphoblasts (World Health Organization [WHO] classification) are present in the bone marrow and/or peripheral blood. […] A negative myeloperoxidase (MPO) stain and a positive terminal deoxynucleotidyl transferase (TdT) is the hallmark of the diagnosis of most cases of ALL. However, positive confirmation of lymphoid (and not myeloid) lineage should be performed by flow cytometric demonstration of lymphoid antigens, such as CD3 (T-lineage ALL) or CD19 (B-lineage ALL). […] Studies for BCR-ABL analysis by polymerase chain reaction (PCR) or cytogenetics may help distinguish patients with Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ ALL) from those with the lymphoid blastic phase of chronic myelogenous leukemia (CML).

• #14 https://www.lls.org/leukemia/acute-lymphoblastic-leukemia/childhood-all/diagnosis

  https://www.lls.org/leukemia/acute-lymphoblastic-leukemia/childhood-all/diagnosis

  Diagnosing acute lymphoblastic leukemia (ALL) and the ALL subtype usually involves a series of tests. An accurate diagnosis of the subtype is important. The exact diagnosis helps the doctor […] In children, a diagnosis of ALL generally requires a finding that 25 percent or more of the cells in the bone marrow are leukemic blasts of lymphoid origin (lymphoblasts). […] Even if the CBC findings suggest leukemia, an ALL diagnosis is usually only made after examination of a sample of bone marrow cells. […] Flow cytometry helps to confirm an ALL diagnosis. […] Cytogenetic analysis provides information that is important when determining a patients treatment options and prognosis. […] For example, a translocation between chromosomes 9 and 22 is associated with a diagnosis of Philadelphia chromosome-positive (Ph+) ALL, a subtype of ALL that is treated differently than other subtypes. […] Polymerase chain reaction testing is one method used to determine the amount of minimal residual disease (MRD), the small amount of cancer cells left in the body after treatment.

• #15 Diagnosis and Subclassification of Acute Lymphoblastic Leukemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4235437/

  A morphological bone marrow assessment represents the first step in the diagnostic pathway, for the primary diagnosis of ALL and for the differentiation from acute myeloid leukemia (AML), since ALL, by definition, always presents with bone marrow involvement. […] Immunophenotyping by means of multi-channel flow cytometry (MFC) has become the standard procedure for ALL diagnosis and subclassification, and was also developed as useful tool for the detection and monitoring of minimal residual disease (MRD, reviewed elsewhere in this issue). […] To summarize the diagnostic issue, roughly 75-80% of cases of adult ALL are of B-cell lineage and 20-25% belong to the T-cell lineage. […] In B-lineage ALL the most important markers for diagnosis, differential diagnosis and subclassification are CD19, CD20, CD22, CD24, and CD79a.

• #16 Acute Lymphoblastic Leukemia (ALL) | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/acute-lymphoblastic-leukemia

  Acute lymphoblastic leukemia (ALL) is usually suspected when a blood test finds abnormal blood counts and leukemic cells, or blasts, appear in the blood. It’s generally difficult to be certain of an ALL diagnosis simply by the appearance of cells under the microscope. Therefore, additional laboratory tests are normally needed. These tests include: […] ALL is diagnosed if the bone marrow contains 20% or more immature cells called blasts, determined to be lymphoid in nature. […] Also called flow cytometry, this evaluation of the type of proteins expressed by the cells determines whether they are lymphoid (ALL) or myeloid (which would indicate a different cancer, acute myeloid leukemia, or AML). It also determines whether the affected white blood cells are T or B lymphocytes. […] A type of chromosome testing that is a critical part of the evaluation that helps determine the best course of treatment.

• #17 Acute Lymphoblastic Leukemia (ALL) Workup: Approach Considerations, Routine Laboratory Studies, Radiologic Studies

  https://emedicine.medscape.com/article/207631-workup

  Bone marrow aspiration and biopsy are the definitive diagnostic tests to confirm the diagnosis of leukemia. Immunophenotyping helps to elucidate the subtype. […] The diagnosis of ALL is made when at least 30% lymphoblasts (French-American-British [FAB] classification) or 20% lymphoblasts (World Health Organization [WHO] classification) are present in the bone marrow and/or peripheral blood. […] A negative myeloperoxidase (MPO) stain and a positive terminal deoxynucleotidyl transferase (TdT) is the hallmark of the diagnosis of most cases of ALL. However, positive confirmation of lymphoid (and not myeloid) lineage should be performed by flow cytometric demonstration of lymphoid antigens, such as CD3 (T-lineage ALL) or CD19 (B-lineage ALL). […] Studies for BCR-ABL analysis by polymerase chain reaction (PCR) or cytogenetics may help distinguish patients with Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ ALL) from those with the lymphoid blastic phase of chronic myelogenous leukemia (CML).

• #18 Childhood Acute Lymphoblastic Leukemia – NCI

  https://www.cancer.gov/types/leukemia/patient/child-all-treatment-pdq

  Tests to diagnose childhood acute lymphoblastic leukemia […] The tests used to diagnose childhood acute lymphoblastic leukemia may include: […] A CBC checks a sample of blood for: […] Genetic tests: Many leukemia cells have abnormalities in their genes which can be found by different types of genetic tests. An example of a genetic test that is commonly used is cytogenetic analysis, in which the chromosomes in a sample of blood or bone marrow are counted and checked for any changes, such as broken, missing, rearranged, or extra chromosomes. Genetic testing of blood and bone marrow samples is used to help diagnose cancer, plan treatment, or find out how well treatment is working. […] Immunophenotyping: A laboratory test that 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. For example, the cancer cells are checked to see if they are B lymphocytes or T lymphocytes.

• #19 Diagnosis and Subclassification of Acute Lymphoblastic Leukemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4235437/

  A morphological bone marrow assessment represents the first step in the diagnostic pathway, for the primary diagnosis of ALL and for the differentiation from acute myeloid leukemia (AML), since ALL, by definition, always presents with bone marrow involvement. […] Immunophenotyping by means of multi-channel flow cytometry (MFC) has become the standard procedure for ALL diagnosis and subclassification, and was also developed as useful tool for the detection and monitoring of minimal residual disease (MRD, reviewed elsewhere in this issue). […] To summarize the diagnostic issue, roughly 75-80% of cases of adult ALL are of B-cell lineage and 20-25% belong to the T-cell lineage. […] In B-lineage ALL the most important markers for diagnosis, differential diagnosis and subclassification are CD19, CD20, CD22, CD24, and CD79a.

• #20 Diagnosis and Subclassification of Acute Lymphoblastic Leukemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4235437/

  T-cell ALL constitutes approximately 25% of all adult cases of ALL. T-cell markers are CD1a, CD2, CD3 (membrane and cytoplasm), CD4, CD5, CD7 and CD8. […] With few exceptions, ALL is readily identified by morphological marrow assessment and MFC evaluation, with no need for additional tests, since genetics/cytogenetics and genomics are available at a later stage and cannot be employed for purely diagnostic purposes, even if they add very useful clinical-prognostic information. […] Cytogenetics represents an important step in ALL classification. Conventional karyotyping can be helpful in the identification of recurrent translocations, as well as gain and loss of gross chromosomal material; however, the major limitation of this technique is that in some cases leukemic cells fail to enter metaphase. However, fluorescence in situ hybridization (FISH) can enable the detection and direct visualization of virtually all investigated chromosomal abnormalities in ALL, with a sensitivity of around 99%. […] Due to the reviewed evidence and the complexity of all the issues at play, it is recommended that adult patients with ALL should be treated within prospective clinical trials, which is the best way to ensure both diagnostic accuracy and therapeutic efficacy.

• #21 Acute Lymphoblastic Leukemia (ALL) Workup: Approach Considerations, Routine Laboratory Studies, Radiologic Studies

  https://emedicine.medscape.com/article/207631-workup

  For optimal risk stratification and treatment planning in patients with ALL, the NCCN advises that bone marrow or peripheral blood lymphoblasts must be tested for specific recurrent genetic abnormalities, as follows: Cytogenetics Karyotyping of G-banded metaphase chromosomes, Interphase fluorescence in situ hybridization (FISH; ALL panel to include testing for BCR-ABL1, MLL, TEL/AML – ETV6/RUNX1, CEP4 and CEP10), Reverse transcriptase polymerase chain reaction (RT-PCR) for fusion genes (eg, BCR-ABL1 Philadelphia [Ph] chromosome positive), including determination of transcript size; in BCR-ABL1 negative cases, testing for other fusions that are associated with Ph-like ALL may be considered, Additional assessment (array comparative genomic hybridization [cGH]) may be considered in cases of aneuploidy or failed karyotype.

• #22 Acute Lymphocytic Leukemia (ALL): Tests After Diagnosis 

  https://healthlibrary.sanjuanregional.com/Conditions/Asthma/Tools/34,BALLD3

  Bone marrow biopsy samples can be tested to see if there are still have leukemia cells in the marrow. This can help see how well treatment is working. Tests can also look for gene changes linked to certain treatment options. The lab tests done may include: […] Cytogenetics. For this test, your cells are grown in a lab for 2 to 3 weeks. The chromosomes inside the cells are then stained with special dyes and looked at with a microscope. Major problems in the chromosomes can often be seen with this test. But smaller changes may not be visible. […] Fluorescence in situ hybridization. This test is another way to look for certain 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, and it can be done on blood samples, too.

• #23 Acute Lymphocytic Leukemia (ALL): Tests After Diagnosis 

  https://healthlibrary.sanjuanregional.com/Conditions/Asthma/Tools/34,BALLD3

  Bone marrow biopsy samples can be tested to see if there are still have leukemia cells in the marrow. This can help see how well treatment is working. Tests can also look for gene changes linked to certain treatment options. The lab tests done may include: […] Cytogenetics. For this test, your cells are grown in a lab for 2 to 3 weeks. The chromosomes inside the cells are then stained with special dyes and looked at with a microscope. Major problems in the chromosomes can often be seen with this test. But smaller changes may not be visible. […] Fluorescence in situ hybridization. This test is another way to look for certain 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, and it can be done on blood samples, too.

• #24 Acute Lymphocytic Leukemia (ALL): Tests After Diagnosis 

  https://healthlibrary.sanjuanregional.com/Conditions/Asthma/Tools/34,BALLD3

  Polymerase chain reaction. This is a very sensitive test that can find very low levels of leukemia cells in a test sample. It can find small levels of chromosome changes that other tests cant find. […] Imaging tests […] Imaging tests aren’t often used for people with ALL, but they may be done to look for problems caused by ALL, like swollen lymph nodes or organs, or signs of infection. These tests may include: […] Chest X-ray […] A chest X-ray uses a small amount of radiation to create an image of tissues inside your body. This test can show if you have enlarged lymph nodes in your chest. If can also be used to show if you have an infection in your lungs. The test takes only a few minutes and doesn’t hurt. […] CT scan […] This test uses a series of X-rays and a computer to make detailed images of tissues inside the body. A CT scan can show enlarged lymph nodes, a swollen spleen, or pockets of infection in your organs.

• #25 Acute Lymphoblastic Leukemia – ALL | Choose the Right Test

  https://arupconsult.com/content/acute-lymphoblastic-leukemia

  In B-ALL, the National Comprehensive Cancer Network (NCCN) recommends testing for all relevant fusion genes and pathogenic variants via NGS to determine prognosis and plan treatment. […] Therapeutic response monitoring is performed to assess treatment efficacy and determine risk stratification. Minimal residual disease (MRD) evaluation is performed for nearly all pediatric and many adult patients with ALL.

• #26 Acute Lymphocytic Leukemia (ALL): Diagnosis 

  https://uchealth.staywellsolutionsonline.com/Library/DiseasesConditions/Adult/Liver/34,BALLD1A

  Finding the gene changes for your ALL cells can help decide your treatment. For instance, about 1 out of 4 people with ALL have the Philadelphia chromosome in their leukemia cells. This chromosome contains the abnormal gene BCR-ABL1 that helps the leukemia cells grow. Those leukemia cells can be treated with medicines that target cells with this gene change. […] When your healthcare provider has the results of your tests, they will contact you with the results. Your healthcare provider will talk with you about other tests you may need if ALL is found. Make sure you understand the results and what follow-up you need.

• #27 https://www.lls.org/leukemia/acute-lymphoblastic-leukemia/childhood-all/diagnosis

  https://www.lls.org/leukemia/acute-lymphoblastic-leukemia/childhood-all/diagnosis

  Diagnosing acute lymphoblastic leukemia (ALL) and the ALL subtype usually involves a series of tests. An accurate diagnosis of the subtype is important. The exact diagnosis helps the doctor […] In children, a diagnosis of ALL generally requires a finding that 25 percent or more of the cells in the bone marrow are leukemic blasts of lymphoid origin (lymphoblasts). […] Even if the CBC findings suggest leukemia, an ALL diagnosis is usually only made after examination of a sample of bone marrow cells. […] Flow cytometry helps to confirm an ALL diagnosis. […] Cytogenetic analysis provides information that is important when determining a patients treatment options and prognosis. […] For example, a translocation between chromosomes 9 and 22 is associated with a diagnosis of Philadelphia chromosome-positive (Ph+) ALL, a subtype of ALL that is treated differently than other subtypes. […] Polymerase chain reaction testing is one method used to determine the amount of minimal residual disease (MRD), the small amount of cancer cells left in the body after treatment.

• #28 Acute Lymphocytic Leukemia Diagnosis | MD Anderson Cancer Center

  https://www.mdanderson.org/cancer-types/acute-lymphocytic-leukemia/acute-lymphocytic-leukemia-diagnosis.html

  In a biopsy, suspected cancer cells are retrieved by the care team and studied under a microscope. For leukemia, patients undergo a bone marrow biopsy. This requires taking a sample of bone marrow from the hip with a needle to determine if cancerous cells are present. […] If a patient is diagnosed with leukemia, additional tests can determine whether certain chromosomes or gene mutations are present in the diseased cells, or if they have specific proteins or molecules on their surface. This process, sometimes referred to as molecular profiling, can help doctors determine the patient’s exact type of leukemia and his or her prognosis. […] While leukemia starts in the bone marrow, it may spread to the central nervous system (the brain and spinal cord). This is most common in acute lymphocytic leukemia but can occur in any type of leukemia. […] A lumbar puncture, also known as a spinal tap, can look for this spread by examining the patient’s spinal fluid. […] Doctors may order imaging exams to look for the presence of cancer in different parts of the body.

• #29 Acute Lymphocytic Leukemia (ALL): Tests After Diagnosis 

  https://healthlibrary.sanjuanregional.com/Conditions/Asthma/Tools/34,BALLD3

  Your blood cell levels should return to normal if treatment is working. […] Lumbar puncture […] This is also called a spinal tap. The procedure takes about 10 to 20 minutes. First, medicine (called local anesthetic) is used to numb a small part of your lower back. A thin needle is slid between the bones of your lower back, into your spinal canal. This is the area around the spinal cord. You may feel brief pain when the needle is put in. A small amount of cerebrospinal fluid (CSF) is removed. CSF is the fluid that bathes and protects the brain and spinal cord. The CSF is sent to a lab to be tested. […] This test is often used for people with ALL because this cancer can spread into the CSF. It can also be used to put chemotherapy into the CSF to prevent or treat leukemia in this part of the body.

• #30 Acute Lymphocytic Leukemia (ALL): Tests After Diagnosis 

  https://healthlibrary.vidanthealth.com/Search/34,BALLD3

  After a diagnosis of ALL, you will likely need more 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 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. […] 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. […] This is also called a spinal tap. The procedure takes about 10 to 20 minutes. First, medicine (called local anesthetic) is used to numb a small part of your lower back. A thin needle is slid between the bones of your lower back, into your spinal canal. This is the area around the spinal cord. You may feel brief pain when the needle is put in. A small amount of cerebrospinal fluid (CSF) is removed. CSF is the fluid that bathes and protects the brain and spinal cord. The CSF is sent to a lab to be tested.

• #31 Tests for Acute Lymphocytic Leukemia (ALL) | American Cancer Society

  https://www.cancer.org/cancer/types/acute-lymphocytic-leukemia/detection-diagnosis-staging/how-diagnosed.html

  A diagnosis of ALL generally requires that at least 20% of the cells in the bone marrow are blasts. […] Recognizing these changes can help identify certain types of ALL, and it can be important in determining a patients outlook and likely response to some treatments. […] Chromosome testing is a standard part of the work-up for ALL. […] FISH can be used on regular blood or bone marrow samples. […] A lumbar puncture can also be used to put chemotherapy drugs into the CSF to try to prevent or treat the spread of leukemia to the spinal cord and brain. […] This is only rarely needed with leukemia because the diagnosis is usually made looking at blood and bone marrow. […] Imaging tests might be done in people with ALL to help determine the extent of the disease, if it is thought to have spread beyond the bone marrow and blood.

• #32 Tests for Acute Lymphocytic Leukemia (ALL) | American Cancer Society

  https://www.cancer.org/cancer/types/acute-lymphocytic-leukemia/detection-diagnosis-staging/how-diagnosed.html

  A diagnosis of ALL generally requires that at least 20% of the cells in the bone marrow are blasts. […] Recognizing these changes can help identify certain types of ALL, and it can be important in determining a patients outlook and likely response to some treatments. […] Chromosome testing is a standard part of the work-up for ALL. […] FISH can be used on regular blood or bone marrow samples. […] A lumbar puncture can also be used to put chemotherapy drugs into the CSF to try to prevent or treat the spread of leukemia to the spinal cord and brain. […] This is only rarely needed with leukemia because the diagnosis is usually made looking at blood and bone marrow. […] Imaging tests might be done in people with ALL to help determine the extent of the disease, if it is thought to have spread beyond the bone marrow and blood.

• #33 Acute Lymphocytic Leukemia (ALL): Tests After Diagnosis 

  https://healthlibrary.sanjuanregional.com/Conditions/Asthma/Tools/34,BALLD3

  Polymerase chain reaction. This is a very sensitive test that can find very low levels of leukemia cells in a test sample. It can find small levels of chromosome changes that other tests cant find. […] Imaging tests […] Imaging tests aren’t often used for people with ALL, but they may be done to look for problems caused by ALL, like swollen lymph nodes or organs, or signs of infection. These tests may include: […] Chest X-ray […] A chest X-ray uses a small amount of radiation to create an image of tissues inside your body. This test can show if you have enlarged lymph nodes in your chest. If can also be used to show if you have an infection in your lungs. The test takes only a few minutes and doesn’t hurt. […] CT scan […] This test uses a series of X-rays and a computer to make detailed images of tissues inside the body. A CT scan can show enlarged lymph nodes, a swollen spleen, or pockets of infection in your organs.

• #34 Acute Lymphocytic Leukemia (ALL): Tests After Diagnosis 

  https://healthlibrary.sanjuanregional.com/Conditions/Asthma/Tools/34,BALLD3

  Polymerase chain reaction. This is a very sensitive test that can find very low levels of leukemia cells in a test sample. It can find small levels of chromosome changes that other tests cant find. […] Imaging tests […] Imaging tests aren’t often used for people with ALL, but they may be done to look for problems caused by ALL, like swollen lymph nodes or organs, or signs of infection. These tests may include: […] Chest X-ray […] A chest X-ray uses a small amount of radiation to create an image of tissues inside your body. This test can show if you have enlarged lymph nodes in your chest. If can also be used to show if you have an infection in your lungs. The test takes only a few minutes and doesn’t hurt. […] CT scan […] This test uses a series of X-rays and a computer to make detailed images of tissues inside the body. A CT scan can show enlarged lymph nodes, a swollen spleen, or pockets of infection in your organs.

• #35 Acute Lymphocytic Leukemia (ALL): Tests After Diagnosis 

  https://healthlibrary.sanjuanregional.com/Conditions/Asthma/Tools/34,BALLD3

  During the test, you lie still on a table as it slides through the center of the ring-shaped CT scanner. The scanner sends a beam of X-rays at your body. You may be asked to hold your breath once or more during the scan. You may be asked to drink a contrast dye after the first set of pictures. This dye can help show abnormal areas in your body. The contrast dye will pass out of your body over the next day or so through your bowel movements. If the dye is given through an IV in your arm, you may feel a flush of warmth in your body for a few minutes. In rare cases, it can also cause hives or other allergic reactions. Tell the test technician if you dont feel well during the test. […] MRI […] This test uses large magnets, radio waves, and a computer to create detailed images of tissues inside the body. This test may be used to see if your healthcare provider thinks the leukemia may have spread to your brain.

• #36 Acute Lymphocytic Leukemia (ALL): Tests After Diagnosis 

  https://healthlibrary.sanjuanregional.com/Conditions/Asthma/Tools/34,BALLD3

  For this test, you lie still on a table as it passes through a long, tube-like scanner. More than one set of images may be taken. Each set may take up to 15 minutes. The whole test may last an hour or more. Tell the technician if you have a fear of closed-in spaces (claustrophobia). You can be given medicine to help you relax or make you sleepy before the test. You may be injected with a contrast dye before the scan. […] Ultrasound […] This test uses sound waves and a computer to create images of tissues inside your body. The test can help show if organs, like your spleen, are swollen. The test is painless and takes only a few minutes. You lie on a table. A gel is put on your skin over the area to be examined. A wand called a transducer is moved over your skin. The images show up on a computer screen. […] Working with your healthcare provider […] 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. You may want to ask how and when you can expect to get your test results.

• #37 Acute Lymphoblastic Leukemia – ALL | Choose the Right Test

  https://arupconsult.com/content/acute-lymphoblastic-leukemia

  In B-ALL, the National Comprehensive Cancer Network (NCCN) recommends testing for all relevant fusion genes and pathogenic variants via NGS to determine prognosis and plan treatment. […] Therapeutic response monitoring is performed to assess treatment efficacy and determine risk stratification. Minimal residual disease (MRD) evaluation is performed for nearly all pediatric and many adult patients with ALL.

• #38 https://www.lls.org/leukemia/acute-lymphoblastic-leukemia/childhood-all/diagnosis

  https://www.lls.org/leukemia/acute-lymphoblastic-leukemia/childhood-all/diagnosis

  Diagnosing acute lymphoblastic leukemia (ALL) and the ALL subtype usually involves a series of tests. An accurate diagnosis of the subtype is important. The exact diagnosis helps the doctor […] In children, a diagnosis of ALL generally requires a finding that 25 percent or more of the cells in the bone marrow are leukemic blasts of lymphoid origin (lymphoblasts). […] Even if the CBC findings suggest leukemia, an ALL diagnosis is usually only made after examination of a sample of bone marrow cells. […] Flow cytometry helps to confirm an ALL diagnosis. […] Cytogenetic analysis provides information that is important when determining a patients treatment options and prognosis. […] For example, a translocation between chromosomes 9 and 22 is associated with a diagnosis of Philadelphia chromosome-positive (Ph+) ALL, a subtype of ALL that is treated differently than other subtypes. […] Polymerase chain reaction testing is one method used to determine the amount of minimal residual disease (MRD), the small amount of cancer cells left in the body after treatment.

• #39 https://www.lls.org/leukemia/acute-lymphoblastic-leukemia/childhood-all/diagnosis

  https://www.lls.org/leukemia/acute-lymphoblastic-leukemia/childhood-all/diagnosis

  Diagnosing acute lymphoblastic leukemia (ALL) and the ALL subtype usually involves a series of tests. An accurate diagnosis of the subtype is important. The exact diagnosis helps the doctor […] In children, a diagnosis of ALL generally requires a finding that 25 percent or more of the cells in the bone marrow are leukemic blasts of lymphoid origin (lymphoblasts). […] Even if the CBC findings suggest leukemia, an ALL diagnosis is usually only made after examination of a sample of bone marrow cells. […] Flow cytometry helps to confirm an ALL diagnosis. […] Cytogenetic analysis provides information that is important when determining a patients treatment options and prognosis. […] For example, a translocation between chromosomes 9 and 22 is associated with a diagnosis of Philadelphia chromosome-positive (Ph+) ALL, a subtype of ALL that is treated differently than other subtypes. […] Polymerase chain reaction testing is one method used to determine the amount of minimal residual disease (MRD), the small amount of cancer cells left in the body after treatment.

• #40 Acute Lymphoblastic Leukemia – ALL | Choose the Right Test

  https://arupconsult.com/content/acute-lymphoblastic-leukemia

  In B-ALL, the National Comprehensive Cancer Network (NCCN) recommends testing for all relevant fusion genes and pathogenic variants via NGS to determine prognosis and plan treatment. […] Therapeutic response monitoring is performed to assess treatment efficacy and determine risk stratification. Minimal residual disease (MRD) evaluation is performed for nearly all pediatric and many adult patients with ALL.

• #41 Acute Lymphoblastic Leukemia Treatment – NCI

  https://www.cancer.gov/types/leukemia/patient/adult-all-treatment-pdq

  Acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). […] Tests that examine the blood and bone marrow are used to diagnose ALL. […] After ALL has been diagnosed, tests are done to find out if the cancer has spread to the central nervous system (brain and spinal cord) or to other parts of the body. […] Signs and symptoms of ALL include fatigue, fever, and easy bruising or bleeding. […] The following tests and procedures may be used to find out if the leukemia has spread outside the blood and bone marrow: Chest x-ray is a type of radiation that can go through the body and make pictures of the organs and bones inside the chest. […] Lumbar puncture is a procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column.

• #42 Acute lymphocytic leukemia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/report/acute-lymphocytic-leukemia

  The doctor will examine the person for signs of enlarged lymph nodes or enlarged liver or spleen. The doctor will also look for any signs of bruising or bleeding. […] Once a diagnosis of leukemia has been made, further tests are performed on the bone marrow cells: Cytochemistry, flow cytometry, immunocytochemistry, immunophenotyping, and next generation sequencing are tests that are used to identify and classify specific types of leukemia. […] The results of cytogenetic, flow cytometry, immunophenotyping, and other tests can help provide information on types and subtypes of ALL cells. The particular subtype of cell can aid in determining prognosis and treatment.

• #43 Acute Lymphoblastic Leukemia (ALL) Differential Diagnoses

  https://emedicine.medscape.com/article/207631-differential

  Patients with acute lymphoblastic leukemia (ALL) may present with fever without any other evidence of infection. In these patients, all fevers must be assumed to be due to infections until proven otherwise. Failure to treat infections promptly and aggressively can be fatal; infections are still the most common cause of death in patients undergoing treatment for ALL. […] Other conditions that should be considered in the evaluation of suspected acute ALL include acute biphenotypic leukemia and natural killer (NK) cell leukemia. […] The presence of Philadelphia chromosome does not confer poor prognosis in adult pre-B acute lymphoblastic leukaemia in the tyrosine kinase inhibitor era – a surveillance, epidemiology, and end results database analysis. […] Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology. […] The role of cytotoxic therapy with hematopoietic stem cell transplantation in the treatment of adult acute lymphoblastic leukemia: update of the 2006 evidence-based review.

• #44 Acute Lymphoblastic Leukemia (ALL) Workup: Approach Considerations, Routine Laboratory Studies, Radiologic Studies

  https://emedicine.medscape.com/article/207631-workup

  The following studies and procedures are used in the workup for acute lymphoblastic leukemia (ALL): Complete blood count (CBC) with peripheral smear, Coagulation studies (prothrombin time [PT], activated partial thromboplastin time [aPTT], fibrinogen), Chemistry profile, including liver and kidney function studies, Bone marrow aspiration and biopsy Definitive diagnostic tests, Cultures; in particular, blood cultures, Chest radiography, Chest computed tomography (CT) scan, as indicated by symptoms, Multiple-gated acquisition (MUGA) scan or echocardiogram, Lumbar puncture. […] National Comprehensive Cancer Network (NCCN) guidelines note that diagnosis of ALL generally requires the following: Demonstration of 20% bone marrow lymphoblasts, Morphologic assessment of Wright/Giemsa stained bone marrow aspirate smears, Hematoxylin and eosin (HE) stained bone marrow core biopsy and clot sections, Comprehensive flow cytometric immunophenotyping, Baseline characterization of the leukemic clone, to facilitate subsequent minimal residual disease (MRD) analysis.

• #45 Acute Lymphoblastic Leukemia (ALL) Workup: Approach Considerations, Routine Laboratory Studies, Radiologic Studies

  https://emedicine.medscape.com/article/207631-workup

  The following studies and procedures are used in the workup for acute lymphoblastic leukemia (ALL): Complete blood count (CBC) with peripheral smear, Coagulation studies (prothrombin time [PT], activated partial thromboplastin time [aPTT], fibrinogen), Chemistry profile, including liver and kidney function studies, Bone marrow aspiration and biopsy Definitive diagnostic tests, Cultures; in particular, blood cultures, Chest radiography, Chest computed tomography (CT) scan, as indicated by symptoms, Multiple-gated acquisition (MUGA) scan or echocardiogram, Lumbar puncture. […] National Comprehensive Cancer Network (NCCN) guidelines note that diagnosis of ALL generally requires the following: Demonstration of 20% bone marrow lymphoblasts, Morphologic assessment of Wright/Giemsa stained bone marrow aspirate smears, Hematoxylin and eosin (HE) stained bone marrow core biopsy and clot sections, Comprehensive flow cytometric immunophenotyping, Baseline characterization of the leukemic clone, to facilitate subsequent minimal residual disease (MRD) analysis.

• #46 Acute Lymphoblastic Leukemia (ALL) Workup: Approach Considerations, Routine Laboratory Studies, Radiologic Studies

  https://emedicine.medscape.com/article/207631-workup

  The following studies and procedures are used in the workup for acute lymphoblastic leukemia (ALL): Complete blood count (CBC) with peripheral smear, Coagulation studies (prothrombin time [PT], activated partial thromboplastin time [aPTT], fibrinogen), Chemistry profile, including liver and kidney function studies, Bone marrow aspiration and biopsy Definitive diagnostic tests, Cultures; in particular, blood cultures, Chest radiography, Chest computed tomography (CT) scan, as indicated by symptoms, Multiple-gated acquisition (MUGA) scan or echocardiogram, Lumbar puncture. […] National Comprehensive Cancer Network (NCCN) guidelines note that diagnosis of ALL generally requires the following: Demonstration of 20% bone marrow lymphoblasts, Morphologic assessment of Wright/Giemsa stained bone marrow aspirate smears, Hematoxylin and eosin (HE) stained bone marrow core biopsy and clot sections, Comprehensive flow cytometric immunophenotyping, Baseline characterization of the leukemic clone, to facilitate subsequent minimal residual disease (MRD) analysis.

• #47 Acute Lymphocytic Leukemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK459149/

  Acute lymphocytic leukemia (ALL) is a malignancy of B or T lymphoblasts characterized by uncontrolled proliferation of abnormal, immature lymphocytes and their progenitors which ultimately leads to the replacement of bone marrow elements and other lymphoid organs resulting in a characteristic disease pattern. […] This activity examines when acute lymphocytic leukemia should be considered on differential diagnosis and how to properly evaluate it. […] Acute Lymphocytic Leukemia diagnosis should be explored initially with a laboratory evaluation consisting of a CBC, electrolyte and renal panel, and LDH level. Additionally, imaging, such as a chest x-ray for symptoms of shortness of breath, may be obtained. If abdominal fullness, tenderness, or abdominal mass are symptoms, then a CT scan of the abdomen and pelvis should be obtained. This can also help with the staging of the disease.

• #48 Acute Lymphoblastic Leukemia (ALL) Workup: Approach Considerations, Routine Laboratory Studies, Radiologic Studies

  https://emedicine.medscape.com/article/207631-workup

  Bone marrow aspiration and biopsy are the definitive diagnostic tests to confirm the diagnosis of leukemia. Immunophenotyping helps to elucidate the subtype. […] The diagnosis of ALL is made when at least 30% lymphoblasts (French-American-British [FAB] classification) or 20% lymphoblasts (World Health Organization [WHO] classification) are present in the bone marrow and/or peripheral blood. […] A negative myeloperoxidase (MPO) stain and a positive terminal deoxynucleotidyl transferase (TdT) is the hallmark of the diagnosis of most cases of ALL. However, positive confirmation of lymphoid (and not myeloid) lineage should be performed by flow cytometric demonstration of lymphoid antigens, such as CD3 (T-lineage ALL) or CD19 (B-lineage ALL). […] Studies for BCR-ABL analysis by polymerase chain reaction (PCR) or cytogenetics may help distinguish patients with Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ ALL) from those with the lymphoid blastic phase of chronic myelogenous leukemia (CML).

• #49 Acute Lymphoblastic Leukemia (ALL) Differential Diagnoses

  https://emedicine.medscape.com/article/207631-differential

  Patients with acute lymphoblastic leukemia (ALL) may present with fever without any other evidence of infection. In these patients, all fevers must be assumed to be due to infections until proven otherwise. Failure to treat infections promptly and aggressively can be fatal; infections are still the most common cause of death in patients undergoing treatment for ALL. […] Other conditions that should be considered in the evaluation of suspected acute ALL include acute biphenotypic leukemia and natural killer (NK) cell leukemia. […] The presence of Philadelphia chromosome does not confer poor prognosis in adult pre-B acute lymphoblastic leukaemia in the tyrosine kinase inhibitor era – a surveillance, epidemiology, and end results database analysis. […] Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology. […] The role of cytotoxic therapy with hematopoietic stem cell transplantation in the treatment of adult acute lymphoblastic leukemia: update of the 2006 evidence-based review.

• #50 Acute Lymphoblastic Leukemia (ALL) Differential Diagnoses

  https://emedicine.medscape.com/article/207631-differential

  Patients with acute lymphoblastic leukemia (ALL) may present with fever without any other evidence of infection. In these patients, all fevers must be assumed to be due to infections until proven otherwise. Failure to treat infections promptly and aggressively can be fatal; infections are still the most common cause of death in patients undergoing treatment for ALL. […] Other conditions that should be considered in the evaluation of suspected acute ALL include acute biphenotypic leukemia and natural killer (NK) cell leukemia. […] The presence of Philadelphia chromosome does not confer poor prognosis in adult pre-B acute lymphoblastic leukaemia in the tyrosine kinase inhibitor era – a surveillance, epidemiology, and end results database analysis. […] Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology. […] The role of cytotoxic therapy with hematopoietic stem cell transplantation in the treatment of adult acute lymphoblastic leukemia: update of the 2006 evidence-based review.

• #51 Acute Lymphoblastic Leukemia (ALL) Workup: Approach Considerations, Routine Laboratory Studies, Radiologic Studies

  https://emedicine.medscape.com/article/207631-workup

  Bone marrow aspiration and biopsy are the definitive diagnostic tests to confirm the diagnosis of leukemia. Immunophenotyping helps to elucidate the subtype. […] The diagnosis of ALL is made when at least 30% lymphoblasts (French-American-British [FAB] classification) or 20% lymphoblasts (World Health Organization [WHO] classification) are present in the bone marrow and/or peripheral blood. […] A negative myeloperoxidase (MPO) stain and a positive terminal deoxynucleotidyl transferase (TdT) is the hallmark of the diagnosis of most cases of ALL. However, positive confirmation of lymphoid (and not myeloid) lineage should be performed by flow cytometric demonstration of lymphoid antigens, such as CD3 (T-lineage ALL) or CD19 (B-lineage ALL). […] Studies for BCR-ABL analysis by polymerase chain reaction (PCR) or cytogenetics may help distinguish patients with Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ ALL) from those with the lymphoid blastic phase of chronic myelogenous leukemia (CML).

• #52 https://www.lls.org/leukemia/acute-lymphoblastic-leukemia/diagnosis

  https://www.lls.org/leukemia/acute-lymphoblastic-leukemia/diagnosis

  Diagnosing acute lymphoblastic leukemia (ALL) and your ALL subtype usually involves a series of tests. An accurate diagnosis of the subtype is important. The exact diagnosis helps the doctor […] If the CBC findings suggest leukemia, a diagnosis of ALL can sometimes be confirmed with additional testing of the blood sample. Sometimes, however, an ALL diagnosis can be made only after the examination of a sample of bone marrow cells. […] After your doctor takes samples of your blood and bone marrow, a hematopathologist confirms a diagnosis and identifies the ALL subtype. A hematopathologist is a specialist who studies blood cell diseases by looking at samples of blood and marrow cells and other tissues. […] The diagnosis of ALL is confirmed by identifying: Leukemic blast of lymphoid origin (lymphoblasts) in the bone marrow samples. The percentage of blast cells in the bone marrow. Typically, there are no blast cells in the blood and no more than 5 percent of the cells in the bone marrow are blast cells. In ALL, at least 20 percent of the cells in the bone marrow are lymphoblasts. […] If you’re diagnosed with ALL, blood and bone marrow tests are also done during or after treatment to see how your ALL cells are responding to therapy.

• #53 Acute Lymphocytic Leukemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK459149/

  NCCN diagnosis guidelines: Have presence of more than 20% bone marrow lymphoblasts, Hematoxylin and eosin-stained bone marrow clot and biopsy sections, Morphology of bone marrow aspirate assessed with Wright/Giemsa, Complete flow cytometric immunophenotyping, Baseline evaluation of the leukemic clone. […] Lumbar puncture is used to evaluate CNS involvement. The fluid is checked for the presence of lymphoblasts.

• #54 Acute Lymphoblastic Leukemia (ALL) Workup: Approach Considerations, Routine Laboratory Studies, Radiologic Studies

  https://emedicine.medscape.com/article/207631-workup

  The following studies and procedures are used in the workup for acute lymphoblastic leukemia (ALL): Complete blood count (CBC) with peripheral smear, Coagulation studies (prothrombin time [PT], activated partial thromboplastin time [aPTT], fibrinogen), Chemistry profile, including liver and kidney function studies, Bone marrow aspiration and biopsy Definitive diagnostic tests, Cultures; in particular, blood cultures, Chest radiography, Chest computed tomography (CT) scan, as indicated by symptoms, Multiple-gated acquisition (MUGA) scan or echocardiogram, Lumbar puncture. […] National Comprehensive Cancer Network (NCCN) guidelines note that diagnosis of ALL generally requires the following: Demonstration of 20% bone marrow lymphoblasts, Morphologic assessment of Wright/Giemsa stained bone marrow aspirate smears, Hematoxylin and eosin (HE) stained bone marrow core biopsy and clot sections, Comprehensive flow cytometric immunophenotyping, Baseline characterization of the leukemic clone, to facilitate subsequent minimal residual disease (MRD) analysis.

• #55 Acute Lymphoblastic Leukemia (ALL) Workup: Approach Considerations, Routine Laboratory Studies, Radiologic Studies

  https://emedicine.medscape.com/article/207631-workup

  For optimal risk stratification and treatment planning in patients with ALL, the NCCN advises that bone marrow or peripheral blood lymphoblasts must be tested for specific recurrent genetic abnormalities, as follows: Cytogenetics Karyotyping of G-banded metaphase chromosomes, Interphase fluorescence in situ hybridization (FISH; ALL panel to include testing for BCR-ABL1, MLL, TEL/AML – ETV6/RUNX1, CEP4 and CEP10), Reverse transcriptase polymerase chain reaction (RT-PCR) for fusion genes (eg, BCR-ABL1 Philadelphia [Ph] chromosome positive), including determination of transcript size; in BCR-ABL1 negative cases, testing for other fusions that are associated with Ph-like ALL may be considered, Additional assessment (array comparative genomic hybridization [cGH]) may be considered in cases of aneuploidy or failed karyotype.

• #56 Diagnosis and Subclassification of Acute Lymphoblastic Leukemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4235437/

  T-cell ALL constitutes approximately 25% of all adult cases of ALL. T-cell markers are CD1a, CD2, CD3 (membrane and cytoplasm), CD4, CD5, CD7 and CD8. […] With few exceptions, ALL is readily identified by morphological marrow assessment and MFC evaluation, with no need for additional tests, since genetics/cytogenetics and genomics are available at a later stage and cannot be employed for purely diagnostic purposes, even if they add very useful clinical-prognostic information. […] Cytogenetics represents an important step in ALL classification. Conventional karyotyping can be helpful in the identification of recurrent translocations, as well as gain and loss of gross chromosomal material; however, the major limitation of this technique is that in some cases leukemic cells fail to enter metaphase. However, fluorescence in situ hybridization (FISH) can enable the detection and direct visualization of virtually all investigated chromosomal abnormalities in ALL, with a sensitivity of around 99%. […] Due to the reviewed evidence and the complexity of all the issues at play, it is recommended that adult patients with ALL should be treated within prospective clinical trials, which is the best way to ensure both diagnostic accuracy and therapeutic efficacy.

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