Hematopathology — MCQs

A 15-year-old girl presented with weakness for 2 months, accompanied by pallor and icterus on examination, with a palpable spleen. Laboratory examination findings include reticulocytosis, increased mean corpuscular hemoglobin concentration (MCHC), and a positive osmotic fragility test. The Coombs test is negative. What is the diagnosis?

Q1440

What is the most common beta thalassemia gene mutation worldwide?

Hematopathology Indian Medical PG Practice Questions and MCQs

Question 1431: 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 1432: Which of the following statements on lymphoma is not true?

A. In general, follicular (nodular) NHL has worse prognosis compared to diffuse NHL. (Correct Answer)
B. HD more often tends to remain localized to a single group of lymph nodes and spreads by contiguity.
C. Several types of non-Hodgkin's lymphoma (NHL) may have a leukemic phase.
D. A single classification system for Hodgkin's disease (HD) is almost universally accepted.

Explanation: ***In general follicular NHL has worse prognosis compared to diffuse NHL*** - Follicular Non-Hodgkin's lymphoma (NHL) typically has a **more indolent** course than diffuse lymphoma, leading to **better long-term survival** [1]. - Diffuse Large B-cell Lymphoma (DLBCL) is usually more aggressive and tends to have a **poorer prognosis** despite being treatable. *HD tends to remain localized to a single group of lymph nodes and spreads by contiguity* - Hodgkin's Disease (HD) is known for progressing in a **contiguous manner** [2], but it can **spread beyond localized regions** as well. - While it often starts in a single area, advanced stages may show **systemic spread**, contradicting the strict localization concept. *Several types of Non-Hodgkin's lymphoma may have a leukemic phase* - Certain Non-Hodgkin's lymphomas, such as **chronic lymphocytic leukemia (CLL)**, indeed can present with a significant **leukemic phase** [3]. - This characteristic differentiates them from other lymphomas that typically do not exhibit this phase. *A single classification system of Hodgkin's disease is almost universally accepted* - There are **multiple classification systems** for Hodgkin's Disease [4], including the Ann Arbor system and others, indicating no **universal acceptance**. - Ongoing research may lead to updates and varied classification approaches, showing the **evolution of diagnostic criteria**. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 561-562. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 557-558. [3] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 560-561. [4] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 559-560.

Question 1433: Fanconi's anemia is a:

A. Anemia due to iron deficiency
B. Anemia due to autoimmune response
C. Genetic anemia (Correct Answer)
D. Anemia due to red blood cell destruction

Explanation: ***Genetic anemia*** - Fanconi's anemia is a rare, **inherited disorder** characterized by bone marrow failure, physical abnormalities, and an increased risk of cancer [1]. - It results from mutations in genes involved in **DNA repair**, leading to chromosomal instability and defective hematopoietic stem cell function. *Anemia due to iron deficiency* - **Iron deficiency anemia** occurs when there is insufficient iron to produce adequate hemoglobin, often due to poor diet, malabsorption, or blood loss. - It is not associated with the genetic mutations or bone marrow failure seen in Fanconi's anemia. *Anemia due to autoimmune response* - **Autoimmune hemolytic anemia** involves the immune system mistakenly attacking and destroying red blood cells, which is a different mechanism from Fanconi's anemia. - Conditions like **Lupus** or **autoimmune lymphoproliferative syndrome** are examples of diseases causing autoimmune anemias. *Anemia due to red blood cell destruction* - Anemia due to red blood cell destruction, or **hemolytic anemia**, can be caused by various factors including genetic defects (e.g., sickle cell anemia), infections, or certain medications [2]. - While Fanconi's anemia can eventually lead to pancytopenia and affect red blood cells, its primary cause is **bone marrow failure** due to genetic defects in DNA repair, rather than direct hemolysis. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 595-596. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, p. 638.

Question 1434: Test used for factor VIII deficiency identification is:

A. PT
B. APTT (Correct Answer)
C. D dimer
D. FDP

Explanation: ***APTT*** - Activated Partial Thromboplastin Time (APTT) is specifically used to identify deficiencies in the **intrinsic pathway**, including **factor VIII deficiency** [1]. - A prolonged APTT indicates a defect in this pathway, which is essential for diagnosing **hemophilia A**, linked to factor VIII [1][2]. *FDP* - Fibrin degradation products (FDP) are used to assess **fibrinolytic activity**, not specific for factor VIII deficiency. - While elevated in various conditions, they do not provide specific information about the intrinsic pathway or factor levels. *D dimer* - D-dimer is primarily used to rule out **thrombotic disorders** such as **deep vein thrombosis** or **pulmonary embolism**. - It does not assess **coagulation factors** or deficiencies like factor VIII, thus not appropriate for this diagnosis. *PT* - Prothrombin Time (PT) evaluates the **extrinsic pathway** of coagulation, primarily involving **factors I, II, V, VII, and X** [1]. - Factor VIII deficiency will not typically affect the PT, making it unsuitable for identifying issues related to the intrinsic pathway [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Hemodynamic Disorders, Thromboembolic Disease, and Shock, pp. 128-130. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 669-670.

Question 1435: Which of the following is not considered a poor prognostic factor for Hodgkin's lymphoma?

A. Young age (Correct Answer)
B. Lymphocyte depletion
C. Extranodal metastasis
D. Involvement of stomach

Explanation: ***Young age*** - Young age is generally associated with a **better prognosis** in Hodgkin's lymphoma, as this population often responds well to treatment [1][3]. - Patients are likely to have **fewer comorbid conditions**, which contributes to improved survival rates. *Extranodal metastasis* - Extranodal involvement is a **poor prognostic factor** indicating more advanced disease and increased treatment resistance [1]. - It is commonly associated with a **higher stage of disease**, leading to less favorable outcomes. *Lymphocyte depletion* - Lymphocyte depletion subtype of Hodgkin's lymphoma is linked to a **worse prognosis** due to its aggressive nature and poor response to therapies [2]. - It presents with fewer lymphocytes, indicating a more challenging disease course and **lower survival rates** [2]. *Involvement of stomach* - Gastric involvement in Hodgkin's lymphoma is also considered a **poor prognostic factor**, suggesting advanced disease. - It often correlates with **systemic symptoms** and may incur a higher risk of complications and treatment failures. **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. 616-618. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 559-560. [3] 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. 618.

Question 1436: Amyloidosis is associated with the following conditions, except:

A. Multiple myeloma
B. Thymoma (Correct Answer)
C. Lymphoma
D. Hypernephroma

Explanation: ***Thymoma*** - Thymoma is not commonly associated with **systemic deposition of amyloid**. It mainly presents with symptoms related to thymic tumor effects. - This condition primarily arises in **myasthenia gravis** but does not lead to amyloidosis. *Multiple myeloma* - This condition is frequently associated with **AL amyloidosis** due to light chain production [1][2]. - Patients often present with **renal failure** and **proteinuria** along with associated symptoms. *Hypernephroma* - Also known as renal cell carcinoma, it can lead to amyloidosis due to **paraneoplastic syndromes**. - The renal effects are often related to the tumor burden rather than direct amyloid deposition. *Lymphoma* - Similar to multiple myeloma, lymphoma can cause **AL amyloidosis** through increased production of light chains. - Patients may experience systemic symptoms like **weight loss** and **night sweats**, along with evidence of amyloid involvement. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of the Immune System, pp. 266-267. [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. 135-136.

Question 1437: Which type of leukemia is associated with the Philadelphia chromosome?

A. Acute Myeloid Leukemia (AML)
B. Chronic Myeloid Leukemia (CML) (Correct Answer)
C. Acute Lymphoblastic Leukemia (ALL)
D. Chronic Lymphocytic Leukemia (CLL)

Explanation: ***Chromosome 9-22 translocation*** - The **Philadelphia chromosome** is the result of a **translocation between chromosome 9 and chromosome 22**, which is a hallmark of **Chronic Myeloid Leukemia (CML)** [1][3]. - This genetic abnormality leads to the formation of the **BCR-ABL fusion gene**, resulting in constitutive tyrosine kinase activity [1][2][3]. *Chromosome 5-9 translocation* - There is no established **translocation involving chromosomes 5 and 9** associated with any specific leukemia. - This type of translocation is not recognized as characteristic of any leukemia, unlike the 9-22 translocation. *If absent, indicate prognosis is bad* - The presence of the **Philadelphia chromosome** is associated with a poorer prognosis in CML, but its absence does not universally indicate a bad prognosis. - Prognosis is multifactorial, and absence may not directly translate to unfavorable outcomes in all cases. *It is prognostic factor in ALL* - The **Philadelphia chromosome** is primarily associated with **Chronic Myeloid Leukemia (CML)** [1][3], not Acute Lymphoblastic Leukemia (ALL). - While it can appear in ALL, it is not a main prognostic factor for this leukemia type. **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. 225-226. [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. 624. [3] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 605-607.

Question 1438: Hypercoagulability due to a defective factor V gene is called:

A. Lisbon mutation
B. Antiphospholipid syndrome
C. Inducible thrombocytopenia syndrome
D. Leiden mutation (Correct Answer)

Explanation: ***Leiden mutation*** - The **Leiden mutation** refers specifically to a mutation in the **factor V gene** that leads to a hypercoagulable state, particularly increasing the risk of venous thromboembolism [1]. - It causes resistance to **activated protein C**, which normally regulates blood clotting, thus contributing to sustained clot formation [1]. *Lisbon mutation* - The **Lisbon mutation** is not a recognized term in the context of coagulation disorders or factor V. - There is no clinical relevance tied to clotting abnormalities related specifically to this mutation in the scientific literature. *Antiphospholipid syndrome* - Antiphospholipid syndrome is an autoimmune disorder characterized by **thrombosis** and pregnancy complications, but not specifically linked to the **factor V gene**. - It involves antibodies against phospholipids, which is unrelated to the genetic mutations affecting factor V. *Inducible thrombocytopenia syndrome* - This syndrome primarily involves **low platelet counts** induced by certain medications or conditions, not a defect in **factor V**. - It does not relate to hypercoagulability but rather to bleeding risks due to the **decreased platelet count**. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Hemodynamic Disorders, Thromboembolic Disease, and Shock, pp. 133-134.

Question 1439: A 15-year-old girl presented with weakness for 2 months, accompanied by pallor and icterus on examination, with a palpable spleen. Laboratory examination findings include reticulocytosis, increased mean corpuscular hemoglobin concentration (MCHC), and a positive osmotic fragility test. The Coombs test is negative. What is the diagnosis?

A. Hereditary spherocytosis (Correct Answer)
B. Iron deficiency anemia
C. Autoimmune hemolytic anemia (AIHA)
D. G6PD deficiency anemia

Explanation: ***Hereditary spherocytosis*** - The combination of **reticulocytosis**, **macrocytic anemia (increased MCV)**, and **positive osmotic fragility test** indicates spherocytes, which are typical in hereditary spherocytosis [1]. - The **negative Coombs test** further supports this diagnosis by ruling out autoimmune hemolytic anemia (AIHA) [2]. *AIHA* - AIHA is characterized by a **positive Coombs test** due to the presence of autoantibodies, which is not the case here [2]. - It typically presents with **normocytic anemia** rather than macrocytic changes like in hereditary spherocytosis. *G-6-PD deficiency anemia* - G-6-PD deficiency usually presents with **episodic hemolysis** and often shows **bite cells**, but the osmotic fragility would not be positive in this scenario. - Symptoms often occur after certain triggers (e.g., infections, drugs), differing from the chronic symptoms noted in this patient [3]. *Iron deficiency anemia* - Iron deficiency anemia typically shows **microcytic hypochromic cells**, with a **low MCV** and **MCHC**, which is inconsistent with the findings of increased MCV and reticulocytosis here. - It doesn't cause a positive osmotic fragility test. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 597-598. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 602-603. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 641-642. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 640-641.

Question 1440: What is the most common beta thalassemia gene mutation worldwide?

A. Large gene deletion
B. IVS-1-1 (G→T) mutation
C. Codon 39 (C→T) mutation
D. IVS-1-110 (G→A) mutation (Correct Answer)

Explanation: ***IVS-1-110 (G→A) mutation*** - This mutation at **intron 1 position 110** (Guanine to Adenine substitution) is considered the most common single gene defect causing **beta thalassemia** worldwide, particularly prevalent in the **Mediterranean region** (Greece, Cyprus, Turkey). [1] - It leads to an alteration in the **splicing of mRNA**, resulting in reduced or absent production of the **beta-globin chain**. [1] - **Note:** The most common mutation varies by geographic population; in the **Indian subcontinent**, IVS-1-5 (G→C) is most prevalent. *IVS-1-1 (G→T) mutation* - This mutation, involving a **Guanine to Thymine** substitution at **intron 1 position 1**, is a common cause of **beta thalassemia** in the **Indian subcontinent** and Mediterranean regions. [1] - It affects RNA splicing and is the second most common mutation in India after IVS-1-5 (G→C). *Codon 39 (C→T) mutation* - This mutation, a **nonsense mutation** where Cytosine is replaced by Thymine at **codon 39**, is prevalent in the **Mediterranean and Middle East** populations. [2] - It results in a **premature stop codon**, leading to a complete absence of functional beta-globin chain (β⁰ thalassemia). [2] *Large gene deletion* - While large deletions can occur and cause **beta thalassemia**, particularly certain forms of **β⁰ thalassemia**, they are generally less frequent compared to point mutations. [1] - Deletions more commonly cause **alpha thalassemia** rather than beta thalassemia, although some deletions do affect the beta-globin gene cluster. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 646-647. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 147-148.

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