Leukemia Flashcards
What is leukemia?
Leukemia is caused by mutations in bone marrow stem cells, leading to abnormal cell production and impaired normal hematopoiesis.
What are the two main classifications of leukemia?
Acute and Chronic.
What are the types of acute leukemia?
Acute Myeloid Leukemia (AML) and Acute Lymphoblastic Leukemia (ALL).
What are the types of chronic leukemia?
Chronic Myeloid Leukemia (CML) and Chronic Lymphocytic Leukemia (CLL).
What is the median age of diagnosis for AML?
67 years.
What are common causes of AML?
Genetic predisposition, radiation, chemical exposures, and certain drugs like alkylating agents.
What is the hallmark of AML diagnosis?
Presence of >20% myeloblasts in the bone marrow.
What is the first-line treatment for AML?
Induction therapy with cytarabine and an anthracycline (e.g., daunorubicin).
What is the role of flow cytometry in AML?
To distinguish AML from ALL and identify subtypes using markers like CD34, CD13, and CD33.
What is the Philadelphia chromosome?
A translocation between chromosomes 9 and 22, t(9;22), seen in CML and some cases of ALL.
What is the primary driver of CML?
The BCR/ABL1 fusion gene, which results in a constitutively active tyrosine kinase.
What is the median age of diagnosis for CML?
55-65 years.
What are the typical blood findings in CML?
Leukocytosis with neutrophils, bands, myelocytes, metamyelocytes, and increased basophils/eosinophils.
What is the treatment for CML?
Tyrosine kinase inhibitors (TKIs) like imatinib, dasatinib, or nilotinib.
What is the most common leukemia in children?
Acute Lymphoblastic Leukemia (ALL).
What is the peak age for ALL in children?
3-4 years.
What is the Philadelphia chromosome-positive ALL?
A subtype of ALL with the BCR/ABL translocation, more common in elderly patients.
What is the diagnostic hallmark of ALL?
> 90% leukemic blast cells in the bone marrow.
What is the first-line treatment for ALL?
Induction therapy with chemotherapy, followed by consolidation and maintenance therapy.
What is the role of lumbar puncture in ALL?
To diagnose CNS involvement and administer intrathecal methotrexate.
What is Chronic Lymphocytic Leukemia (CLL)?
A monoclonal proliferation of mature B lymphocytes with an absolute lymphocyte count ≥5 × 10^9/L.
What is the median age of diagnosis for CLL?
71 years.
What are common cytogenetic abnormalities in CLL?
del(13q14.3), trisomy 12, del(11q22.3), and del(17p13.1).
What is the Binet staging system for CLL?
A staging system based on the number of lymphoid areas involved and blood counts.
What are the complications of CLL?
Infections, secondary cancers, autoimmune complications, and Richter’s transformation.
What is Richter’s transformation?
The transformation of CLL into an aggressive lymphoma, most commonly DLBCL.
What are the treatment options for CLL?
BTK inhibitors (ibrutinib), BCL2 inhibitors (venetoclax), and chemoimmunotherapy (FCR, BR).
What is the role of FISH in CLL diagnosis?
To detect cytogenetic abnormalities like del(13q), trisomy 12, and del(17p).
What is the most common symptom of CML?
Fatigue, weight loss, and splenomegaly.
What is the typical WBC count in CML?
Elevated, often >100,000/μL.
What is the role of PCR in CML diagnosis?
To detect the BCR/ABL1 fusion gene.
What is the treatment goal in CML?
To achieve a deep molecular response and prevent progression to blast crisis.
What is the most common symptom of AML?
Fatigue, fever, and bleeding due to cytopenias.
What is the role of cytogenetic analysis in AML?
To identify chromosomal abnormalities that guide prognosis and treatment.
What is the European LeukemiaNet risk stratification for AML?
A system that categorizes AML into favorable, intermediate, and adverse risk based on genetics.
What is the treatment for Acute Promyelocytic Leukemia (APL)?
ATRA (all-trans retinoic acid) and ATO (arsenic trioxide).
What is the most common genetic mutation in AML?
Mutations in genes like FLT3, NPM1, and CEBPA.
What is the role of bone marrow biopsy in leukemia diagnosis?
To assess cellularity, blast percentage, and perform cytogenetic/molecular studies.
What is the most common cause of death in AML patients?
Infection due to neutropenia.
What is the role of supportive care in AML?
Platelet/RBC transfusions, antibacterial/antifungal prophylaxis, and antiviral treatment.
What is the typical presentation of ALL?
Fatigue, fever, bone pain, and organomegaly.
What is the role of immunophenotyping in ALL?
To differentiate between B-cell and T-cell lineage ALL.
What is the prognosis for Ph+ ALL?
Poor, especially in elderly patients.
What is the role of maintenance therapy in ALL?
To prevent relapse after induction and consolidation therapy.
What is the most common cytogenetic abnormality in ALL?
t(9;22) or Philadelphia chromosome.
What is the role of molecular studies in ALL?
To detect genetic abnormalities like MLL rearrangements and BCR/ABL fusion.
What is the typical presentation of CLL?
Often asymptomatic, diagnosed incidentally on routine blood work.
What is the role of CD5 in CLL diagnosis?
A T-cell marker expressed on malignant B cells in CLL.
What is the B-cell receptor signaling pathway in CLL?
A key pathway involved in the pathogenesis of CLL, often mutated in IGHV.
What is the role of TP53 mutations in CLL?
Associated with poor prognosis and resistance to chemotherapy.
What is the treatment for high-risk CLL?
Targeted therapies like BTK inhibitors (ibrutinib) and BCL2 inhibitors (venetoclax).
