Myelodysplastic Syndromes — MCQs
In the context of myelodysplastic syndromes (MDS) and acute myelogenous leukemia (AML), which of the following cytogenetic abnormalities is associated with the worst prognosis?
All of the following are good prognostic factors for pediatric acute lymphoblastic leukemia, except:
What is the most common type of acute myeloid leukemia in patients with Down's syndrome?
Myeloid sarcoma, which is a tumor mass consisting of myeloid blasts occurring at anatomic sites other than the bone marrow, is often characterized by chromosome aberrations. Which of the following is NOT typically associated with myeloid sarcoma?
The strongest occupational risk factor for hematological carcinoma is
Among the following AML subtypes, non-specific esterase (NSE) staining is typically NEGATIVE in which one?
Auer rods are seen in:
Which genetic alteration is associated with a poor prognosis in acute myeloid leukemia?
What does the term 'pathology' specifically refer to in medical science?
What is the typical bone marrow finding in myelofibrosis?
Myelodysplastic Syndromes Indian Medical PG Practice Questions and MCQs
Question 1: In the context of myelodysplastic syndromes (MDS) and acute myelogenous leukemia (AML), which of the following cytogenetic abnormalities is associated with the worst prognosis?
- A. inv(16)
- B. Normal cytogenetics
- C. Monosomy 7 (Correct Answer)
- D. t(8;21) translocation
Explanation: ***Monosomy 7*** - Monosomy 7 is associated with **poor prognosis** in conditions like **acute myeloid leukemia (AML)**, often leading to a higher risk of treatment failure. - It implies more aggressive disease and often correlates with **poor response to therapy**. *8/21 translocation* - Generally indicates a more favorable prognosis [1], commonly seen in **Acute Lymphoblastic Leukemia (ALL)**. - Associated with **treatment responsiveness** and a higher chance of remission compared to other cytogenetic abnormalities. *Normal cytogenetics* - In many leukemias, **normal cytogenetics** suggest a relatively **better prognosis** [1] and a more favorable response to treatment. - It is often an indicator of **favorable disease characteristics** and lower risk of relapse. *Inversion 16* - Typically associated with **acute myeloid leukemia (AML)** and indicates a **better prognosis** [1] due to a favorable response to therapy. - Patients with this cytogenetic change generally exhibit **good overall outcomes** compared to other abnormalities. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, p. 620.
Question 2: All of the following are good prognostic factors for pediatric acute lymphoblastic leukemia, except:
- A. Hyperdiploidy
- B. CNS disease at diagnosis (Correct Answer)
- C. t(12;21)
- D. Initial WBC count <50,000/cumm
Explanation: ***CNS disease at diagnosis*** - The presence of **central nervous system (CNS) disease at diagnosis** in pediatric acute lymphoblastic leukemia (ALL) signifies a more aggressive form of the disease. - This involvement indicates a higher risk of relapse and is associated with a **poorer prognosis**, requiring more intensive treatment strategies. - CNS involvement is classified as a **high-risk feature** in ALL risk stratification protocols. *Hyperdiploidy* - **Hyperdiploidy**, specifically a **DNA index > 1.16** (>50 chromosomes), is considered a **favorable prognostic factor** in pediatric ALL. - It is associated with increased sensitivity to chemotherapy and thus a **better treatment outcome**. - High hyperdiploidy accounts for ~25% of pediatric ALL cases and confers excellent prognosis. *Initial WBC count <50,000/cumm* - An **initial WBC count <50,000/cumm** at diagnosis is a well-established **good prognostic factor** in pediatric ALL. - Lower WBC counts indicate lower tumor burden and are associated with **better treatment response and survival**. - WBC ≥50,000/cumm is classified as high-risk, making values below this threshold favorable. *t(12;21)* - The chromosomal translocation **t(12;21)(p13;q22)**, which results in the **ETV6-RUNX1 (TEL-AML1) fusion gene**, is the most common translocation in pediatric ALL (~25% of cases). - This genetic abnormality is indicative of a **favorable prognosis** with high rates of complete remission and a **reduced risk of relapse**. - It is associated with excellent long-term survival rates in pediatric ALL.
Question 3: What is the most common type of acute myeloid leukemia in patients with Down's syndrome?
- A. Acute megakaryoblastic leukemia M7 (Correct Answer)
- B. Acute myeloid leukemia M1
- C. Acute promyelocytic leukemia M3
- D. Acute myeloid leukemia M2
Explanation: ***Acute megakaryoblastic leukemia M7*** - **Acute megakaryoblastic leukemia (AML M7)** is significantly more common in children with **Down's syndrome (trisomy 21)**, particularly those under 5 years of age. - This association is thought to be due to an increased copy number of certain genes on **chromosome 21** that are involved in hematopoiesis and leukemogenesis. [3] *Acute myeloid leukemia M1* - This subtype, characterized by proliferation of **myeloblasts without maturation**, is not specifically associated with Down's syndrome. [1] - It is a more undifferentiated form of AML. *Acute promyelocytic leukemia M3* - Characterized by the t(15;17) translocation involving the **PML-RARα fusion gene**, resulting in a block in myeloid differentiation at the promyelocyte stage. [2], [4], [5] - This subtype is associated with a specific genetic abnormality and is not preferentially seen in patients with Down's syndrome. *Acute myeloid leukemia M2* - This subtype involves **myeloblasts with maturation** and a characteristic t(8;21) chromosomal translocation. [2] - While it's a common form of AML, it does not show the specific strong association with Down's syndrome that AML M7 does. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 607-608. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, p. 620. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 170-171. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 621-622. [5] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 620-621.
Question 4: Myeloid sarcoma, which is a tumor mass consisting of myeloid blasts occurring at anatomic sites other than the bone marrow, is often characterized by chromosome aberrations. Which of the following is NOT typically associated with myeloid sarcoma?
- A. Monosomy 7
- B. t (15;17) (Correct Answer)
- C. Trisomy 8
- D. inv (16)
Explanation: ***t (15;17)*** - The **t(15;17) translocation** is pathognomonic for **acute promyelocytic leukemia (APL, AML-M3)**, a specific subtype of AML characterized by abnormal promyelocytes [1]. - **APL rarely presents with extramedullary involvement** or myeloid sarcoma. The leukemic cells in APL typically remain confined to the bone marrow and peripheral blood [2]. - This makes t(15;17) the chromosomal abnormality **NOT typically associated** with myeloid sarcoma, unlike the other options listed [1]. *Monosomy 7* - **Monosomy 7** is a recurrent chromosomal abnormality associated with a poor prognosis in myeloid malignancies, including various forms of **acute myeloid leukemia (AML)** and **myeloid sarcoma**. - It indicates a loss of an entire chromosome 7, often linked to **myelodysplastic syndromes (MDS)** and therapy-related AML, both of which can present with myeloid sarcoma. *Trisomy 8* - **Trisomy 8** is one of the most common cytogenetic abnormalities found in **AML** and is **frequently observed in cases of myeloid sarcoma**. - It involves an extra copy of chromosome 8 and is associated with an intermediate prognosis. - Myeloid sarcomas with trisomy 8 can occur at various anatomic sites. *inv (16)* - **Inv(16)(p13q22)** is a specific chromosomal inversion associated with **acute myeloid leukemia (AML)** with **myelomonocytic differentiation** and **abnormal eosinophils** [1]. - This inversion leads to the formation of the **CBFB-MYH11 fusion gene**, and AML with inv(16) **can present as myeloid sarcoma**, particularly in soft tissues [1]. - This is a recognized chromosomal abnormality in myeloid sarcoma cases. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 620-621. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 621-622.
Question 5: The strongest occupational risk factor for hematological carcinoma is
- A. Benzene (Correct Answer)
- B. Lithium
- C. Radiation exposure
- D. Cigarette smoke
Explanation: ***Benzene*** - Benzene exposure is recognized as a potent **carcinogen** linked to various hematological malignancies, including **leukemia** [1]. - It affects the **bone marrow**, leading to dysplastic changes and ultimately malignancy. *Nicotine* - Although nicotine is associated with **smoking-related cancers**, it is not directly linked to **hematological carcinomas**. - Its primary role is in causing **lung cancer**, rather than blood cancers. *Lithium* - Lithium is primarily used for **bipolar disorder** and does not have a known link to causing hematological malignancies. - Side effects are more related to **nephrotoxicity** rather than carcinogenic effects. *Alcohol* - Alcohol consumption is primarily associated with **liver cancers** and not specifically linked to hematological carcinomas [2]. - It can contribute to general malignancy development but is not a direct cause of blood cancers. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Neoplasia, p. 286. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 217-218.
Question 6: Among the following AML subtypes, non-specific esterase (NSE) staining is typically NEGATIVE in which one?
- A. Acute Erythroleukemia (M6)
- B. Acute Promyelocytic Leukemia (M3) (Correct Answer)
- C. Acute Myelomonocytic Leukemia (M4)
- D. Acute Monocytic Leukemia (M5)
Explanation: ***Acute Promyelocytic Leukemia (M3)*** - Non-specific esterase (NSE) is **negative** in Acute Promyelocytic Leukemia (M3) because NSE primarily stains cells of the **monocytic lineage**. - M3 is characterized by abnormal **promyelocytes** with heavy granulation, which are granulocytic precursors without monocytic differentiation. - M3 shows strong positivity for **myeloperoxidase (MPO)** instead, which is the characteristic marker for granulocytic lineage. *Acute Myelomonocytic Leukemia (M4)* - NSE staining is **positive** in M4 because this subtype has both myeloid and **monocytic components**. - The monocytic component (≥20% of non-erythroid cells) stains positively with NSE, which helps differentiate it from pure myeloid leukemias. - NSE positivity (inhibited by sodium fluoride) is a key diagnostic feature alongside myeloperoxidase positivity. *Acute Erythroleukemia (M6)* - NSE is typically **negative** in the predominant erythroid component of M6. - The diagnosis of M6 relies on the presence of ≥50% erythroid precursors (which are PAS positive) and ≥20% myeloblasts among non-erythroid cells. - NSE is not a characteristic marker for erythroleukemia. *Acute Monocytic Leukemia (M5)* - NSE staining is characteristically **strongly positive** in M5, which primarily consists of **monoblasts and promonocytes**. - This strong NSE positivity (inhibited by sodium fluoride) is a defining diagnostic feature demonstrating pure monocytic differentiation. - M5 typically shows weak or negative myeloperoxidase, helping distinguish it from other AML subtypes.
Question 7: Auer rods are seen in:
- A. M1 AML
- B. M3 AML (Correct Answer)
- C. M6 AML
- D. All of the options
Explanation: ***M3 AML*** - Auer rods are **characteristic morphological features** associated with acute myeloid leukemia, particularly in **promyelocytic leukemia (M3 AML)** [1][2]. - This subtype is also notable for its association with **DIC** (disseminated intravascular coagulation) due to the release of tissue factor [2]. *M6 AML* - M6 AML, or **acute erythroid leukemia**, does not typically show Auer rods; it is characterized by a predominance of erythroid precursors. - Hallmarks include **anemia** and **thrombocytopenia**, distinguishing it from other leukemia types. *M1 AML* - M1 AML, or acute myeloblastic leukemia with minimal maturation, does show myeloblasts but not specifically Auer rods. - Cytopathological findings usually lack the distinctive features associated with M3. *ALL* - Acute lymphoblastic leukemia (ALL) is primarily associated with **lymphoblasts**, and Auer rods are **not a feature** of this type of leukemia. - The clinical presentation and laboratory findings differ significantly from those in myeloid leukemias. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 621-622. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, p. 620.
Question 8: Which genetic alteration is associated with a poor prognosis in acute myeloid leukemia?
- A. Nucleophosmin mutation (NPM1)
- B. Monosomy 7 (Correct Answer)
- C. Deletion of chromosome 5
- D. T(8:21) translocation
Explanation: ***Correct: Monosomy 7*** - **Monosomy 7** or **deletion 7q (del 7q)** are classified as **adverse/poor-risk cytogenetic abnormalities** in acute myeloid leukemia (AML) per the European LeukemiaNet (ELN) risk stratification - Consistently associated with **poor prognosis**, lower complete remission rates, and shorter overall survival - These alterations indicate **genomic instability** and often lead to **resistance to conventional chemotherapy** - Patients typically require consideration for **allogeneic stem cell transplantation** when eligible *Incorrect: Deletion of chromosome 5* - **Deletion 5q (del 5q)** or **monosomy 5** are also classified as adverse-risk abnormalities in AML - However, **monosomy 7** is more consistently cited as a marker for **very poor prognosis** in AML - Note: **Isolated 5q- syndrome** in myelodysplastic syndromes (MDS) has a better prognosis and responds to lenalidomide, but in AML context it indicates unfavorable outcome *Incorrect: t(8;21) translocation* - The **t(8;21)(q22;q22)** translocation is a **favorable-risk (core-binding factor AML)** genetic alteration [1] - Associated with **good prognosis** and high complete remission rates with standard chemotherapy [1] - Involves fusion of **RUNX1-RUNX1T1 genes** (previously AML1-ETO), creating a specific AML subtype with distinct morphology (often FAB M2 with abnormal eosinophils) [1] *Incorrect: Nucleophosmin mutation (NPM1)* - **NPM1 mutations** without concurrent **FLT3-ITD** (or with low FLT3-ITD allelic ratio) are classified as **favorable-risk** in AML [1] - Associated with **good response to intensive chemotherapy** and improved overall survival, particularly in younger patients with normal karyotype AML [1] - NPM1-mutated AML represents approximately 30% of adult AML cases [1] **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, p. 620.
Question 9: What does the term 'pathology' specifically refer to in medical science?
- A. The examination of bodily functions
- B. The details of disease processes
- C. The explanation of disease mechanisms
- D. The study of diseases and their effects on the body (Correct Answer)
Explanation: ***Work*** - **Pathology** focuses on the **study of disease processes** [1,2], which encompasses how diseases affect the body's function and behavior. - It refers to the **work** carried out by scientists and clinicians in understanding the **mechanisms** and effects of diseases [1]. *Details* - While pathology does involve details, it specifically investigates **disease processes** rather than just presenting details [2]. - The term does not simply mean parts or pieces, but rather the comprehensive examination of **functional impairments** due to disease. *Explains* - Although pathology seeks to explain disease mechanisms, the term more accurately describes the **field of study** rather than the act of explaining itself [1]. - It encompasses methodologies and principles, rather than merely serving as an explanation of conditions. *Function* - The term "function" generally refers to the normal activities of an organism, while pathology studies **dysfunction** inherent in disease. - It highlights **what goes wrong** rather than focusing solely on functional attributes in health [2]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 22-23. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, p. 43.
Question 10: What is the typical bone marrow finding in myelofibrosis?
- A. Megaloblastic cells
- B. Microcytic cells
- C. Thrombocytosis
- D. Dry tap (hypocellular) (Correct Answer)
Explanation: ***Dry tap (hypocellular)*** - In myelofibrosis, the bone marrow is often **hypocellular** due to fibrosis [1][2], leading to a **dry tap** during aspiration. - The presence of **reticulin** and collagen deposition replaces normal hematopoietic cells [2], resulting in ineffective hematopoiesis. *Thrombocytosis* - Myelofibrosis typically leads to **thrombocytopenia**, not thrombocytosis, due to ineffective megakaryopoiesis and splenic sequestration. - Though elevated platelets can occur, they are generally a **secondary response** to the disease and not a hallmark finding. *Megaloblastic cells* - Megaloblastic changes are associated with **vitamin B12** or **folate deficiencies**, which do not occur in myelofibrosis. - In myelofibrosis, the predominant issue is **marrow fibrosis** [1][2], which does not lead to megaloblastosis. *Microcytic cells* - Microcytic cells are commonly linked to **iron deficiency anemia**, not myelofibrosis. - Myelofibrosis typically results in **variable red cell morphology** [1], but microcytic anemia is not a primary characteristic. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 628-629. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 615-616.
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