Hematopathology Practice Questions

Q: What is true about Chediak Higashi syndrome?

Impaired bacteriolysis. **Explanation:** **Chediak-Higashi Syndrome (CHS)** is a rare, autosomal recessive immunodeficiency disorder characterized by a defect in the **LYST gene** (Lysosomal Trafficking Regulator). This defect leads to impaired vesicle fusion and the formation of pathognomonic **giant lysosomal granules** in neutrophils and other cells [1]. 1. **Why "Impaired Bacteriolysis" is correct:** In CHS, although neutrophils can phagocytose bacteria, the fusion of phagosomes with the giant lysosomes is defective [1]. This prevents the delivery of lytic enzymes and reactive oxygen species to the phagosome, resulting in a failure to kill ingested bacteria (impaired bacteriolysis). This leads to recurrent pyogenic infections [1]. 2. **Why other options are incorrect:** * **A. Neutrophilia:** CHS is actually associated with **neutropenia** [1]. The giant granules cause ineffective hematopoiesis in the bone marrow and increased peripheral destruction of fragile neutrophils. * **C. Autosomal Dominant:** CHS follows an **Autosomal Recessive** inheritance pattern [1]. * **D. Associated with Polycythemia:** There is no association with polycythemia. Patients often present with pancytopenia, especially during the "accelerated phase" (lymphohistiocytic infiltration). **High-Yield Clinical Pearls for NEET-PG:** * **Clinical Tetrad:** Partial oculocutaneous albinism, recurrent pyogenic infections, progressive neurological abnormalities, and bleeding tendencies (due to dense granule deficiency in platelets) [1]. * **Peripheral Smear:** Look for **massive/giant azurophilic granules** in the cytoplasm of neutrophils and precursors [1]. * **Accelerated Phase:** A life-threatening, lymphoma-like syndrome characterized by hepatosplenomegaly and lymphadenopathy. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of the Immune System, pp. 245-246.

Q: Molecular studies on an abdominal lymph node containing lymphoma demonstrate t(2;8)(p12;q24) translocation. This is most compatible with which of the following diseases?

Burkitt's lymphoma. **Explanation:** The correct answer is **Burkitt's lymphoma**. **1. Why Burkitt's lymphoma is correct:** Burkitt's lymphoma is characterized by the translocation of the **c-MYC proto-oncogene** (located on chromosome **8q24**) to one of the immunoglobulin (Ig) gene loci [1]. The most common translocation is **t(8;14)** (80% of cases), involving the Ig heavy chain [1]. However, variant translocations occur in 20% of cases: * **t(2;8)(p12;q24):** c-MYC moves to the **kappa (κ) light chain** locus on chromosome 2. * **t(8;22)(q24;q11):** c-MYC moves to the **lambda (λ) light chain** locus on chromosome 22. In all these variants, the overexpression of c-MYC drives rapid cellular proliferation [1]. **2. Why the other options are incorrect:** * **Mantle cell lymphoma:** Characterized by **t(11;14)**, leading to overexpression of **Cyclin D1** (PRAD1 gene) [2]. * **Multiple myeloma:** Often associated with various translocations involving the IgH locus (14q32), most commonly **t(11;14)** or **t(4;14)**, but not specifically defined by t(2;8). * **Small lymphocytic lymphoma (SLL):** Typically lacks specific diagnostic translocations; it is often associated with deletions (e.g., 13q, 11q, 17p) or trisomy 12 [2]. **3. High-Yield Clinical Pearls for NEET-PG:** * **Morphology:** "Starry-sky" appearance (tingible body macrophages against a background of neoplastic B-cells). * **Immunophenotype:** CD19+, CD20+, CD10+, BCL6+, but **BCL2 negative**. * **Proliferation Index:** Ki-67 index is typically nearly **100%**. * **Associations:** Strongly linked to **Epstein-Barr Virus (EBV)**, especially the endemic (African) jaw-swelling variant. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Neoplasia, pp. 324-325. [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. 610-612.

Q: Mantle cell lymphomas are positive for all of the following markers except?

CD23. **Explanation:** Mantle Cell Lymphoma (MCL) is a B-cell neoplasm typically characterized by the translocation **t(11;14)**, which leads to the overexpression of **Cyclin D1** [1]. Understanding its immunophenotype is crucial for differentiating it from other small B-cell lymphomas, particularly Chronic Lymphocytic Leukemia (CLL/SLL). **1. Why CD23 is the correct answer:** Mantle cell lymphoma is characteristically **CD23 negative**. CD23 is a key marker used to differentiate MCL from CLL/SLL (which is CD23 positive). In the "Small B-cell Lymphoma" differential, MCL is typically CD5+, CD20+, and Cyclin D1+, but lacks CD23 and CD10 [1]. **2. Analysis of Incorrect Options:** * **CD20:** This is a pan-B-cell marker. Since MCL is a B-cell lymphoma, it expresses CD20 strongly [1]. * **CD5:** MCL is one of the two major B-cell lymphomas that are **CD5 positive** (the other being CLL/SLL). This marker helps narrow the diagnosis to these two entities. * **Cyclin D1:** This is the hallmark of MCL [1]. The t(11;14) translocation brings the *CCND1* gene under the influence of the IgH promoter, leading to constitutive expression of Cyclin D1, which promotes cell cycle progression. **High-Yield Clinical Pearls for NEET-PG:** * **Genetics:** t(11;14) involving *BCL-1* (Cyclin D1) and *IgH*. * **Morphology:** Look for "centrocyte-like" cells and a "hyalinized arteriole" in the lymph node [1]. * **Clinical Presentation:** Often presents at an advanced stage; may show **Lymphomatous Polyposis** (multiple nodules in the GI tract). * **SOX11:** A highly specific nuclear marker for MCL, especially useful in Cyclin D1-negative cases. * **Aggressive Variant:** The **Blastoid variant** has a very high mitotic rate and poor prognosis [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, pp. 610-612.

Q: A 30-year-old female with anemia, unresponsive to iron, folic acid, and B12 supplementation, underwent further evaluation. Her CBC profile showed Hb-4.7 g/dL, total WBC count-4,000/mm3, and platelet count-70,000/mm3. Peripheral smear findings are provided. Her bone marrow aspirate revealed a dry tap, and a bone marrow biopsy confirmed the diagnosis. Which of the following stains would have been useful in confirming the bone marrow biopsy findings?

Reticulin stain. ***Reticulin stain*** - **Reticulin stain** is the **gold standard** for demonstrating increased **reticulin fibers** in bone marrow, confirming **myelofibrosis** diagnosis. - The **WHO grading system** (MF-0 to MF-3) uses reticulin stain to assess **fibrosis severity** and guide treatment decisions. *Myeloperoxidase (MPO)* - **MPO stain** is used to identify **myeloid lineage cells** and differentiate **acute myeloid leukemia** from other hematologic malignancies. - Not useful for detecting **bone marrow fibrosis** or **reticulin fiber deposition** in myelofibrotic disorders. *Verhoeff-Van Gieson (VVG)* - **VVG stain** demonstrates **elastic fibers** and is primarily used in **cardiovascular pathology** and **connective tissue disorders**. - Does not specifically highlight **reticulin fibers** needed for diagnosing **bone marrow fibrosis**. *Prussian blue stain (for iron)* - **Prussian blue stain** detects **iron deposits** in tissues and is useful for diagnosing **iron overload** or **sideroblastic anemia**. - Cannot demonstrate **reticulin fibrosis** or help confirm **myelofibrosis** in bone marrow specimens.

Question 1

What is true about Chediak Higashi syndrome?

Accepted Answer

Impaired bacteriolysis

Answer

Neutrophilia

Answer

Autosomal dominant

Answer

Associated with polycythemia

Question 2

Molecular studies on an abdominal lymph node containing lymphoma demonstrate t(2;8)(p12;q24) translocation. This is most compatible with which of the following diseases?

Accepted Answer

Burkitt's lymphoma

Answer

Mantle cell lymphoma

Answer

Multiple myeloma

Answer

Small cell lymphoma

Question 3

Which of the following proteins are involved in Hereditary spherocytosis?

Accepted Answer

Spectrin, Ankyrin, Pyrin

Answer

Spectrin, Ankyrin, Band 4.2

Answer

Spectrin, Ankyrin, Actin

Answer

Spectrin, Ankyrin

Question 4

Subnormal serum ferritin is seen in all of the following conditions except:

Accepted Answer

Anemia of chronic disease

Answer

Iron deficiency anemia

Answer

Liver disease

Answer

Hypothyroidism

Question 5

The Myd88 L265P mutation is characteristically seen in which of the following conditions?

Accepted Answer

Waldenstrom's macroglobulinemia

Answer

Multiple myeloma

Answer

Acute lymphoblastic leukemia (ALL)

Answer

Chronic myeloid leukemia (CML)

Question 6

What is the most common cause of aplastic anemia?

Accepted Answer

Exposure to drugs

Answer

Viral hepatitis

Answer

Fanconi anemia

Answer

Fungal infection

Question 7

Mantle cell lymphomas are positive for all of the following markers except?

Accepted Answer

CD23

Answer

CD20

Answer

CD5

Answer

Cyclin D1

Question 8

TRAP positivity is seen with which of the following hematologic malignancies?

Accepted Answer

Hairy cell leukemia

Answer

Chronic myeloid leukemia (CML)

Answer

Chronic lymphocytic leukemia (CLL)

Answer

Follicular lymphoma

Question 9

A 30-year-old female with anemia, unresponsive to iron, folic acid, and B12 supplementation, underwent further evaluation. Her CBC profile showed Hb-4.7 g/dL, total WBC count-4,000/mm3, and platelet count-70,000/mm3. Peripheral smear findings are provided. Her bone marrow aspirate revealed a dry tap, and a bone marrow biopsy confirmed the diagnosis. Which of the following stains would have been useful in confirming the bone marrow biopsy findings?

Accepted Answer

Reticulin stain

Answer

Myeloperoxidase (MPO)

Answer

Verhoeff-Van Gieson (VVG)

Answer

Prussian blue stain (for iron)

Question 10

An elderly male presents with headache, recurrent infections, and multiple punched-out lytic lesions on X-ray skull. Which of the following investigations will best help in establishing the diagnosis?

Accepted Answer

Protein electrophoresis

Answer

Serum calcium

Answer

Acid phosphatase levels

Answer

Alkaline phosphatase levels

Hematopathology — MCQs

Hematopathology — MCQs

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