What is the primary pathophysiological feature of Myelodysplastic Syndromes (MDS)?
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Bone marrow disorders involving ineffective hematopoiesis and abnormal cell proliferation, with diagnostic clues.
This deck enhances your understanding of the pathophysiology, diagnostic criteria, and clinical features of MDS and MPNs, enabling accurate diagnosis and appropriate management strategies in hematology practice.
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| # | Front | Back | Hint |
|---|---|---|---|
| 1 | What is the primary pathophysiological feature of Myelodysplastic Syndromes (MDS)? | MDS is characterized by ineffective hematopoiesis leading to peripheral cytopenias and dysplastic changes in the bone marrow cells. | Think 'ineffective production' of blood cells |
| 2 | Which cytogenetic abnormality is commonly associated with MDS? | Complex karyotypes and deletions involving chromosomes 5q, 7q, or 20q are common cytogenetic abnormalities in MDS. | Chromosome 'deletions' are key clues |
| 3 | What are the typical peripheral blood findings in MDS? | Peripheral blood often shows cytopenias (anemia, leukopenia, thrombocytopenia) with dysplastic features and possible blasts less than 20%. | Think 'ineffective blood production' and dysplasia |
| 4 | How is MDS diagnosed definitively? | Diagnosis is confirmed by bone marrow biopsy showing dysplastic hematopoiesis across one or more lineages, and less than 20% blasts. | Bone marrow is the 'gold standard' |
| 5 | What is the main risk associated with MDS? | Progression to acute myeloid leukemia (AML) in about 30% of cases is the main risk. | Think 'from dysplasia to leukemia' |
| 6 | Which mutation is frequently found in MDS patients? | Mutations in genes such as TP53, ASXL1, and TET2 are common in MDS. | Genetic mutations influence prognosis |
| 7 | What are the key features of Myeloproliferative Neoplasms (MPNs)? | MPNs are characterized by clonal proliferation of one or more myeloid lineages leading to increased cell counts and marrow hyperplasia. | Think 'overproduction' of blood cells |
| 8 | Name the classical MPNs recognized in WHO classification. | Polycythemia vera, essential thrombocythemia, primary myelofibrosis, chronic myeloid leukemia (CML). | Remember PV, ET, PMF, CML |
| 9 | Which genetic abnormality is pathognomonic for CML? | The Philadelphia chromosome t(9;22)(q34;q11), resulting in BCR-ABL fusion gene. | Philadelphia chromosome = BCR-ABL |
| 10 | What is the hallmark laboratory finding in polycythemia vera? | Elevated hemoglobin/hematocrit levels, with low serum erythropoietin levels. | High RBCs with suppressed EPO |
| 11 | How does primary myelofibrosis typically present clinically? | With anemia, splenomegaly, and constitutional symptoms such as weight loss and night sweats due to marrow fibrosis. | Bone marrow becomes fibrotic |
| 12 | What is the role of JAK2 mutations in MPNs? | JAK2 V617F mutation is present in most cases of polycythemia vera and in many cases of essential thrombocythemia and primary myelofibrosis, indicating constitutive JAK-STAT pathway activation. | JAK2 mutation = pathway activation |
| 13 | Which treatment options are commonly used for MDS? | Supportive care (transfusions, growth factors), hypomethylating agents (azacitidine, decitabine), and stem cell transplantation in eligible patients. | Treatment varies based on risk stratification |
| 14 | What is the International Prognostic Scoring System (IPSS) used for in MDS? | To assess disease severity, prognosis, and guide treatment decisions based on cytogenetics, marrow blasts, and cytopenias. | Score to predict outcomes |
| 15 | What distinguishes primary myelofibrosis from other MPNs? | Marrow fibrosis leading to extramedullary hematopoiesis, splenomegaly, and a leukoerythroblastic blood picture. | Fibrosis causes 'extramedullary' hematopoiesis |
| 16 | Which clinical feature is characteristic of essential thrombocythemia? | Persistent thrombocytosis (>450,000/μL) often with bleeding or thrombotic complications. | High platelets |
| 17 | What is leukoerythroblastic picture and in which disorder is it commonly seen? | Presence of nucleated RBCs and immature myeloid cells in peripheral blood, typical of primary myelofibrosis. | Bone marrow fibrosis causes 'left shift' |
| 18 | Why is splenomegaly common in myeloproliferative neoplasms? | Due to extramedullary hematopoiesis compensating for marrow failure or fibrosis. | Spleen as alternative blood cell factory |
| 19 | Name a targeted therapy used in CML and its mechanism. | Imatinib; it inhibits the BCR-ABL tyrosine kinase activity. | Targeted 'magic bullet' for BCR-ABL |
| 20 | What is the significance of blasts >20% in bone marrow or blood? | It indicates transformation to acute myeloid leukemia (AML). | Blast threshold for AML |
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