Materiały źródłowe

• #1 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.

• #1 Diagnosing Acute Lymphoblastic Leukemia | NYU Langone Health

  https://nyulangone.org/conditions/acute-lymphoblastic-leukemia/diagnosis

  Doctors at NYU Langones Perlmutter Cancer Center use the results of sophisticated blood and tissue tests to diagnose acute lymphoblastic leukemia, a cancer of the blood and bone marrow. […] To diagnose the condition, a doctor asks about your medical history and symptoms. He or she may conduct a physical exam to check for swelling in the lymph nodes, liver, or spleen. Several tests can also aid in diagnosing the disease. […] Blood tests allow a doctor to look for increased levels of young white blood cells and reduced levels of red blood cells and platelets. Your doctor also examines the size, shape, and maturity of the white blood cells and looks for abnormal cells such as lymphoblasts. […] Doctors usually conduct a bone marrow aspiration and biopsy to establish the diagnosis of acute lymphoblastic leukemia.

• #1 Acute lymphocytic leukemia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/acute-lymphocytic-leukemia/diagnosis-treatment/drc-20369083

  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. […] During a lumbar puncture, also known as a spinal tap, you typically lie on your side with your knees drawn up to your chest. Then a needle is inserted into the spinal canal in your lower back to collect cerebrospinal fluid for testing. […] Tests and procedures used to diagnose acute lymphocytic leukemia include: […] Blood tests may reveal too many or too few white blood cells, not enough red blood cells, and not enough platelets. A blood test may also show the presence of blast cells immature cells normally found in the bone marrow.

• #1 Acute Lymphoblastic Leukemia (ALL): Symptoms, Treatment & Prognosis

  https://my.clevelandclinic.org/health/diseases/21564-acute-lymphocytic-leukemia

  Acute lymphoblastic leukemia (ALL) is a cancer of the blood and bone marrow. It affects white blood cells, which your body needs to fight infection. Its the most common type of cancer in children, but can also affect adults. Children have a much better chance of recovering from ALL than adults. […] Acute lymphoblastic leukemia (acute lymphocytic leukemia, ALL) is a rare blood cancer that affects a type of white blood cell called lymphocytes. ALL may affect anyone at any age, but children younger than 15 and adults older than 50 are more likely to develop the condition. […] While ALL is a serious condition, thanks to newer treatments, including long-term chemotherapy, children with the condition can be cured, and other people are living longer with ALL. […] Your healthcare provider evaluates your symptoms, reviews your medical history and does a physical exam. If they suspect ALL, they may do the following tests, including tests to look for genetic changes: Complete blood count (CBC), Bone marrow biopsy, Lymph node biopsy, Lumbar puncture (spinal tap), Magnetic resonance imaging (MRI) scan, Computed tomography (CT) scan, Positron emission tomography (PET) scan, Flow cytometry to determine ALL sub-type, Cytogenetic tests to examine cells chromosomes, Molecular assays to check for certain genes, proteins or other molecules that may be signs of ALL.

• #1 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.

• #1 Acute lymphocytic leukemia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/acute-lymphocytic-leukemia/diagnosis-treatment/drc-20369083

  During bone marrow aspiration and biopsy, a needle is used to remove a sample of bone marrow from the hipbone or breastbone. The sample is sent to a lab for testing to look for leukemia cells. […] Doctors in the lab will classify blood cells into specific types based on their size, shape, and other genetic or molecular features. They also look for certain changes in the cancer cells and determine whether the leukemia cells began from B lymphocytes or T lymphocytes. This information helps your doctor develop a treatment plan. […] Imaging tests such as an X-ray, a computerized tomography (CT) scan or an ultrasound scan may help determine whether cancer has spread to the brain and spinal cord or other parts of the body. […] A lumbar puncture test, also called a spinal tap, may be used to collect a sample of spinal fluid the fluid that surrounds the brain and spinal cord. The sample is tested to see whether cancer cells have spread to the spinal fluid.

• #1 Acute lymphoblastic leukaemia diagnosis – Leukaemia Foundation

  https://www.leukaemia.org.au/blood-cancer/types-of-blood-cancer/leukaemia/acute-lymphoblastic-leukaemia/diagnosis/

  Once the diagnosis of ALL is made, blood and bone marrow cells are examined further using special laboratory tests. These include immunophenotyping, cytogenetic and molecular tests. […] Tests may be conducted to provide information on your general health and how your vital organs are functioning. These include a combination of further blood tests and imaging tests (x-rays, scans and ECG).

• #1 Acute lymphoblastic leukemia: an overview of etiology, epidemiology, pathophysiology, diagnosis, and treatment

  https://lymphoblastic-hub.com/medical-information/acute-lymphoblastic-leukemia-an-overview-of-etiology-epidemiology-pathophysiology-diagnosis-and-treatment

  The markers for differential classification of B-ALL are CD19, CD20, CD22, CD24 and CD79a. The main genetic subtypes of B-ALL are described in the table below. […] Through immunophenotyping, CD1a, CD2, cytoplasmic and membrane/surface CD3, CD4, CD5, CD7, and CD8 have been identified as T-cell specific markers. Positive expression of cytoplasmic CD3 and CD7 is commonly seen, with variable expression of the others. In up to 25% of T-ALL cases, CD10 antigens are observed in a non-specific manner with expression of CD34, alongside myeloid markers CD33 and/or CD13.

• #1 Acute lymphoblastic leukaemia – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/273

  Acute lymphoblastic leukaemia (ALL) is a malignant clonal disease that develops when a lymphoid progenitor cell becomes genetically altered and undergoes uncontrolled proliferation. […] A definitive diagnosis of ALL requires cytomorphology assessment, immunophenotyping, molecular studies, and cytogenetic analysis of the bone marrow (or peripheral blood if there are sufficient numbers of circulating lymphoblasts). […] Key diagnostic factors include presence of risk factors, lymphadenopathy, hepatosplenomegaly, pallor, ecchymoses, or petechiae, fever, fatigue, dizziness, palpitations, and dyspnoea, bruising, epistaxis, menorrhagia. […] 1st investigations to order include FBC with differential, peripheral blood smear, serum electrolytes, serum uric acid, serum lactate dehydrogenase (LDH), renal function tests, liver function tests, coagulation profile, bone marrow evaluation, immunophenotyping, cytogenetic analysis (karyotyping and fluorescence in situ hybridisation [FISH]), molecular studies (reverse transcriptase polymerase chain reaction [RT-PCR]), next-generation sequencing (NGS) assay, blood group and antibody screening, antibody testing for infection.

• #1 Tests for Acute Lymphoblastic Leukaemia (ALL) | Cancer Council NSW

  https://www.cancercouncil.com.au/acute-lymphoblastic-leukaemia/diagnosis/tests-2/

  Genomic testing looks for these changes. […] The results of these tests help doctors diagnose the subtype of ALL, guide treatment, monitor response to therapy and predict if the leukaemia is likely to come back after a period of remission (relapse). […] If a stem cell transplant might be a treatment option for you, a blood or bone marrow sample will be tested for human leukocyte antigen (HLA). […] Once you have been diagnosed with ALL you will have a lumbar puncture. This test shows if any leukaemia cells have travelled to the fluid around your spine and brain (called cerebrospinal fluid). […] Chromosome 22 is abnormal in about 1 in 4 adults with ALL. This is known as the Philadelphia chromosome. […] BCR-ABL is considered a cancer gene because it is present only in developing leukaemia cells. It carries instructions for the body to produce an abnormal type of protein called tyrosine kinase, a protein that tells leukaemia cells to grow and multiply.

• #1

  https://www.parkwayshenton.com.sg/conditions-diseases/childhood-acute-lymphoblastic-leukaemia/diagnosis-treatment

  Oncogene fusion transcripts. Tests that target certain important genetic aberrations in the leukaemia cells can provide important information that is predictive of treatment responses and outcomes. […] Cytogenetics. Chromosome re-arrangements and changes from the leukaemia cells can also provide information that can predict treatment responses and outcomes. […] T-cell receptor and Immunoglobulin H-chain re-arrangements. Each childs ALL comes with a specific genetic change that can be found in the T-cell receptor gene and/or the immunoglobulin heavy chain gene. By tracking the specific mutation, the amount of leukaemia cells remaining in the bone marrow after treatment can be measured. Minimal or measurable residual disease (MRD) monitoring is one of the most powerful way of treatment assessment to improve the outcomes of children with ALL.

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

  https://avera.staywellsolutionsonline.com/HeartHealth/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. […] The tests may include: Blood tests, Lumbar puncture, Bone marrow biopsy, Imaging tests. […] Blood tests can measure the numbers of the different types of cells in your blood, such as white blood cells and platelets. Your blood cell levels should return to normal if treatment is working. […] 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. […] 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.

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

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

  CT or CAT scan (computerized axial tomography): More detailed than an X-ray, this procedure uses a combination of X-rays and computer technology to produce precise and accurate internal imagery. […] MRI (magnetic resonance imaging): A powerful magnet, radio waves and specialized computer imaging combine to create highly detailed pictures of areas inside the body.

• #1 Acute lymphocytic leukemia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/acute-lymphocytic-leukemia/diagnosis-treatment/drc-20369083

  Your doctor uses information gathered from these tests and procedures to determine your prognosis and decide on your treatment options. Other types of cancer use numerical stages to indicate how far the cancer has spread, but there are no stages of acute lymphocytic leukemia. […] Instead, the seriousness of your condition is determined by: […] The type of lymphocytes involved B cells or T cells […] The specific genetic changes present in your leukemia cells […] Your age […] Results from lab tests, such as the number of white blood cells detected in a blood sample.

• #1 Acute Lymphoblastic Leukaemia (Symptoms and Treatment)

  https://patient.info/doctor/acute-lymphoblastic-leukaemia-pro

  Most induction regimens are centred on vincristine, corticosteroids, and anthracycline (daunorubicin, doxorubicin, rubidazone, idarubicin), with or without cyclophosphamide or cytarabine. […] Once normal haematopoiesis is achieved, patients undergo maintenance therapy. […] The incorporation of CNS prophylaxis, consisting of cranial radiation and intrathecal chemotherapy, has led to effective control of CNS disease and reduced the incidence of CNS leukaemia from over 65% to less than 10%. […] SCT allows intensification of chemotherapies and radiotherapies as it replaces destroyed stem cells. […] Relapse has a very poor prognosis in patients with acute lymphoblastic leukaemia. […] The outcome of ALL is strictly related to the age of a patient, with cure rates from 80-90% in childhood ALL, decreasing to 10% in elderly/frail patients with ALL. […] Adverse prognostic indicators include age of presentation 12 months or 10 years, presenting leukocyte count 50 x 109/L, male sex, adverse cytogenetics and extramedullary (eg, CNS) involvement.

• #1 Patient education: Acute lymphoblastic leukemia (ALL) treatment in adults (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/acute-lymphoblastic-leukemia-all-treatment-in-adults-beyond-the-basics

  Following the standard two to three years of treatment, patients in complete clinical remission should be monitored closely for evidence of early relapse. This involves checking blood counts and bone marrow aspiration and biopsy to look for lymphoblasts. This allows for early detection and treatment if relapse were to occur. Patients with ALL who maintain complete, continuous remission for four to five years are considered cured and no longer need routine bone marrow examination. However, relapses of ALL as long as 21 years after diagnosis have been reported. […] Several novel anti-leukemia treatments have been approved for specific subtypes of ALL. Immune-based (non-chemotherapy) treatments have been developed and are becoming more widely available. Some of these are synthetic antibodies that bind to the surface of ALL cells in the bloodstream or bone marrow and kill them. Another approach uses genetic engineering of the patient’s own immune cells to create chimeric antigen receptor (CAR) T cells which, when reinfused back into the patient, can destroy chemotherapy-resistant ALL cells.

• #1 Patient education: Acute lymphoblastic leukemia (ALL) treatment in adults (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/acute-lymphoblastic-leukemia-all-treatment-in-adults-beyond-the-basics

  Acute lymphoblastic leukemia (also called ALL) is a cancer of blood cells. It affects a type of white blood cell called a lymphocyte. ALL is also known as lymphoblastic lymphoma when the disease primarily involves lymph nodes rather than the blood and bone marrow. „Acute” means that it develops and advances quickly, and requires urgent treatment. ALL is the most common malignant disease in children, but it is less common in adults. […] More than 80 percent of newly diagnosed adults with ALL enter complete remission after the initial treatment. This means that there are no detectable lymphoblasts in the blood or bone marrow and that the bone marrow is functioning normally. However, such remissions are usually short-lived unless additional chemotherapy is given. […] Very sensitive pathology tests (flow cytometry and molecular methods) may be able to detect tumor cells that cannot be identified using routine examination of the blood or bone marrow. Tumor cells detected by these tests are called measurable residual disease (MRD; also called minimal residual disease). Detection of MRD at the end of induction might change the treatment plan since even small numbers of ALL cells can lead to relapse.

• #1 How We Diagnose Acute Lymphoblastic Leukemia | Dana-Farber Cancer Institute

  https://www.dana-farber.org/cancer-care/types/acute-lymphoblastic-leukemia/diagnosis

  We have unique expertise in interpreting genetic tests and translating that data into an action plan. […] In this procedure, a small needle is placed into the lower back, and a small amount of cerebral spinal fluid is removed. This sample is tested for leukemia cells to determine if the leukemia has spread to the central nervous system. […] A quick and accurate diagnosis is important so you can begin treatment for ALL right away. […] Because adult acute lymphoblastic leukemia is relatively uncommon, we believe there is great value in adults with suspected or diagnosed ALL consulting with our team of experienced clinicians. […] To confirm your diagnosis. […] To determine the optimal therapy and timing of treatment.

• #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. […] 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. […] 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).

• #2 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.

• #2 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.

• #2 Acute lymphoblastic leukaemia diagnosis – Leukaemia Foundation

  https://www.leukaemia.org.au/blood-cancer/types-of-blood-cancer/leukaemia/acute-lymphoblastic-leukaemia/diagnosis/

  ALL 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 ALL. An ALL diagnosis needs to be confirmed by examining the cells in your bone marrow. […] If the results of your blood tests suggest that you might have ALL, 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 diagnosis of ALL is confirmed by the presence of an excessive number of blast cells in the bone marrow.

• #2 Acute Lymphoblastic Leukemia (ALL) – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/leukemias/acute-lymphoblastic-leukemia-all

  Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer; it also strikes adults of all ages. […] Examination of peripheral blood smear and bone marrow is usually diagnostic. […] A diagnosis of acute lymphoblastic leukemia is made when blast cells of lymphoid origin are 20% of marrow nucleated cells or 20% of non-erythroid cells when the erythroid component is 50%. If marrow cells are insufficient or unavailable, diagnosis can be made by the same criteria using a peripheral blood sample. […] CBC and peripheral smear are the first tests done; pancytopenia and peripheral blasts suggest acute leukemia. […] Bone marrow examination (aspiration and needle biopsy) is routinely done. Blast cells in the bone marrow are typically between 25 and 95% in patients with ALL. […] Histochemical studies, cytogenetics, and immunophenotyping studies help distinguish the blasts of ALL from those of AML or other disease processes.

• #2 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.

• #2 Diagnosing Acute Lymphoblastic Leukemia | NYU Langone Health

  https://nyulangone.org/conditions/acute-lymphoblastic-leukemia/diagnosis

  Doctors at NYU Langones Perlmutter Cancer Center use the results of sophisticated blood and tissue tests to diagnose acute lymphoblastic leukemia, a cancer of the blood and bone marrow. […] To diagnose the condition, a doctor asks about your medical history and symptoms. He or she may conduct a physical exam to check for swelling in the lymph nodes, liver, or spleen. Several tests can also aid in diagnosing the disease. […] Blood tests allow a doctor to look for increased levels of young white blood cells and reduced levels of red blood cells and platelets. Your doctor also examines the size, shape, and maturity of the white blood cells and looks for abnormal cells such as lymphoblasts. […] Doctors usually conduct a bone marrow aspiration and biopsy to establish the diagnosis of acute lymphoblastic leukemia.

• #2 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. […] 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. […] This test might be done if a lumbar puncture finds leukemia cells in the CSF, or if a person is having symptoms that could mean the ALL has spread to the area around the brain.

• #2 Acute lymphoblastic leukaemia – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/273

  Acute lymphoblastic leukaemia (ALL) is a malignant clonal disease that develops when a lymphoid progenitor cell becomes genetically altered and undergoes uncontrolled proliferation. […] A definitive diagnosis of ALL requires cytomorphology assessment, immunophenotyping, molecular studies, and cytogenetic analysis of the bone marrow (or peripheral blood if there are sufficient numbers of circulating lymphoblasts). […] Key diagnostic factors include presence of risk factors, lymphadenopathy, hepatosplenomegaly, pallor, ecchymoses, or petechiae, fever, fatigue, dizziness, palpitations, and dyspnoea, bruising, epistaxis, menorrhagia. […] 1st investigations to order include FBC with differential, peripheral blood smear, serum electrolytes, serum uric acid, serum lactate dehydrogenase (LDH), renal function tests, liver function tests, coagulation profile, bone marrow evaluation, immunophenotyping, cytogenetic analysis (karyotyping and fluorescence in situ hybridisation [FISH]), molecular studies (reverse transcriptase polymerase chain reaction [RT-PCR]), next-generation sequencing (NGS) assay, blood group and antibody screening, antibody testing for infection.

• #2 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.

• #2 Acute lymphoblastic leukemia – Wikipedia

  https://en.wikipedia.org/wiki/Acute_lymphoblastic_leukemia

  Cytogenetic testing on the marrow samples can help classify disease and predict how aggressive the disease course will be. […] Immunophenotyping, a laboratory technique used to identify proteins that are expressed on their cell surface, is a key component in the diagnosis of ALL. […] In the malignant lymphoblasts of ALL, expression of terminal deoxynucleotidyl transferase (TdT) on the cell surface can help differentiate malignant lymphocyte cells from reactive lymphocytes, white blood cells that are reacting normally to an infection in the body.

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

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

  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) […] Lumbar puncture (LP) is used to evaluate CNS involvement. In pediatric patients, LP is typically included in the diagnostic workup. National Comprehensive Cancer Network (NCCN) guidelines advise that timing of LP should be consistent with the chosen treatment regimen

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

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

  Required testing for the diagnosis of ALL includes morphologic evaluation of bone marrow to determine blast counts, flow cytometric immunophenotyping to define the type of leukemia, and molecular characterization of leukemic cells (eg, cytogenetic evaluation, FISH analysis, and/or molecular genetic testing) to define risk-associated biologic drivers of leukemia. […] Cytogenetic and molecular tests are an important part of the diagnosis, prognosis, and treatment of ALL in pediatric and adult patients. These tests further characterize ALL subtypes and provide prognostic stratification, especially in children. […] Karyotyping, or chromosome analysis, is used to identify recurrent cytogenetic abnormalities and is recommended in all cases of diagnosed or suspected ALL. […] FISH is more sensitive than karyotyping in detecting cytogenetic abnormalities and is recommended (with appropriate probes) for the detection of the most common cytogenetic abnormalities.

• #2 Diagnosing Acute Lymphoblastic Leukemia | NYU Langone Health

  https://nyulangone.org/conditions/acute-lymphoblastic-leukemia/diagnosis

  NYU Langone pathologists also perform sophisticated molecular and genetic tests on blood or bone marrow to confirm a diagnosis, to determine a subtype of the condition, or to target a treatment. […] Our doctors may also perform a number of tests to see if acute lymphoblastic leukemia has spread to areas that cannot be felt during a physical exam, such as the brain and spinal cord or the lymph nodes. […] After diagnosing acute lymphoblastic leukemia, doctors may perform a lumbar puncture to see if the cancer has spread to the spinal cord or brain. […] A CT scan uses X-rays and a computer to create three-dimensional, cross-sectional images of the body. The test can determine whether acute lymphoblastic leukemia has spread to lymph nodes that a doctor cannot detect with a physical exam, or whether organs such as the spleen or liver have become swollen.

• #2 Acute Lymphocytic Leukemia (ALL): Symptoms, Risks, and Survival Rates

  https://www.healthline.com/health/acute-lymphocytic-leukemia-all

  A chest X-ray can allow your doctor to see if the mediastinum, or the middle partition of your chest, is widened. […] A CT scan helps your doctor determine whether cancer has spread to your brain, spinal cord, or other parts of your body. […] A spinal tap is used to check if cancer cells have spread to your spinal fluid. An electrocardiogram (EKG) and echocardiogram of your heart may be performed to check left ventricular function. […] Tests on serum urea and renal and liver function may also be done.

• #2 Acute Lymphoblastic Leukemia Treatment – NCI

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

  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. […] Certain factors affect prognosis (chance of recovery) and treatment options. […] The prognosis and treatment options for ALL depend on: the person’s age, whether the cancer has spread to the brain or spinal cord, whether there are certain changes in the genes, including the Philadelphia chromosome, whether the cancer has been treated before or has recurred (come back).

• #2 Patient education: Acute lymphoblastic leukemia (ALL) treatment in adults (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/acute-lymphoblastic-leukemia-all-treatment-in-adults-beyond-the-basics

  Acute lymphoblastic leukemia (also called ALL) is a cancer of blood cells. It affects a type of white blood cell called a lymphocyte. ALL is also known as lymphoblastic lymphoma when the disease primarily involves lymph nodes rather than the blood and bone marrow. „Acute” means that it develops and advances quickly, and requires urgent treatment. ALL is the most common malignant disease in children, but it is less common in adults. […] More than 80 percent of newly diagnosed adults with ALL enter complete remission after the initial treatment. This means that there are no detectable lymphoblasts in the blood or bone marrow and that the bone marrow is functioning normally. However, such remissions are usually short-lived unless additional chemotherapy is given. […] Very sensitive pathology tests (flow cytometry and molecular methods) may be able to detect tumor cells that cannot be identified using routine examination of the blood or bone marrow. Tumor cells detected by these tests are called measurable residual disease (MRD; also called minimal residual disease). Detection of MRD at the end of induction might change the treatment plan since even small numbers of ALL cells can lead to relapse.

• #2 Acute Lymphocytic Leukemia (ALL): Tests After Diagnosis | UMass Memorial Health

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

  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. […] The tests may include: Blood tests, Lumbar puncture, Bone marrow biopsy, Imaging tests. […] Blood tests can measure the numbers of the different types of cells in your blood, such as white blood cells and platelets. […] Your blood cell levels should return to normal if treatment is working. […] This test is often used for people with ALL because this cancer can spread into the CSF. […] 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. […] 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. […] Your healthcare provider will talk with you about which tests you’ll have.

• #2

  https://www.parkwayshenton.com.sg/conditions-diseases/childhood-acute-lymphoblastic-leukaemia/diagnosis-treatment

  Oncogene fusion transcripts. Tests that target certain important genetic aberrations in the leukaemia cells can provide important information that is predictive of treatment responses and outcomes. […] Cytogenetics. Chromosome re-arrangements and changes from the leukaemia cells can also provide information that can predict treatment responses and outcomes. […] T-cell receptor and Immunoglobulin H-chain re-arrangements. Each childs ALL comes with a specific genetic change that can be found in the T-cell receptor gene and/or the immunoglobulin heavy chain gene. By tracking the specific mutation, the amount of leukaemia cells remaining in the bone marrow after treatment can be measured. Minimal or measurable residual disease (MRD) monitoring is one of the most powerful way of treatment assessment to improve the outcomes of children with ALL.

• #2 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.

• #2 Diagnosis and Subclassification of Acute Lymphoblastic Leukemia

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

  To confirm diagnosis and obtain clinically useful information, it is necessary to differentiate rapidly Ph-positive ALL from Ph-negative ALL in order to allow an early introduction of tyrosine kinase inhibitors in the former subset, to distinguish between different clinico-prognostic Ph- ALL subsets, and to clarify diagnostic issues related to the application of targeted therapy and risk-/minimal residual disease (MRD)-oriented therapy.

• #2 Initial Diagnostic Workup of Acute… | College of American Pathologists

  https://www.cap.org/protocols-and-guidelines/cap-guidelines/current-cap-guidelines/initial-diagnostic-workup-of-acute-leukemia

  An interdisciplinary expert panel of hematologists and hematopathologists to systematically review published evidence to answer six questions for the initial diagnosis of acute leukemia, including acute lymphoblastic leukemia (ALL) […] Clinical teams should adopt the guideline to improve diagnosis, treatment, and outcomes for acute leukemia patients. […] The initial workup and evaluation of acute leukemia (AL) has become increasingly complex over the last several years. […] Importantly, however, in addition to facilitating the diagnosis of AL, these laboratory studies have identified antigens and/or genetic abnormalities that may be targets for more specific therapy, prognostic factors that allow for better risk stratification of patients, and markers that can be used to monitor therapy and detect minimal residual disease.

• #3 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.

• #3 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.

• #3 Patient education: Acute lymphoblastic leukemia (ALL) treatment in adults (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/acute-lymphoblastic-leukemia-all-treatment-in-adults-beyond-the-basics

  Acute lymphoblastic leukemia (also called ALL) is a cancer of blood cells. It affects a type of white blood cell called a lymphocyte. ALL is also known as lymphoblastic lymphoma when the disease primarily involves lymph nodes rather than the blood and bone marrow. „Acute” means that it develops and advances quickly, and requires urgent treatment. ALL is the most common malignant disease in children, but it is less common in adults. […] More than 80 percent of newly diagnosed adults with ALL enter complete remission after the initial treatment. This means that there are no detectable lymphoblasts in the blood or bone marrow and that the bone marrow is functioning normally. However, such remissions are usually short-lived unless additional chemotherapy is given. […] Very sensitive pathology tests (flow cytometry and molecular methods) may be able to detect tumor cells that cannot be identified using routine examination of the blood or bone marrow. Tumor cells detected by these tests are called measurable residual disease (MRD; also called minimal residual disease). Detection of MRD at the end of induction might change the treatment plan since even small numbers of ALL cells can lead to relapse.

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