Hematopathology Practice Questions

Q: A 4-year-old African boy develops a rapidly enlarging mass that involves the right side of his face. Biopsies of this lesion are shown below. Which chromosomal translocation is associated with this neoplasm?

c-myc. ***c-myc*** - The clinical presentation of a rapidly enlarging facial mass in an **African child** is classic for **endemic Burkitt lymphoma**, which is associated with the **t(8;14) translocation** involving the **c-myc oncogene**. - Endemic Burkitt lymphoma characteristically presents as **jaw and facial bone tumors** in children from **malaria-endemic regions** of Africa, with the **c-myc translocation** being the hallmark genetic abnormality. *bcl-2* - The **bcl-2 oncogene** is associated with **follicular lymphoma** and some cases of **diffuse large B-cell lymphoma** through the **t(14;18) translocation**. - **bcl-2** prevents **apoptosis** and is typically seen in **indolent B-cell lymphomas** affecting adults, not rapidly growing pediatric facial masses. *N-myc* - **N-myc amplification** is characteristically associated with **neuroblastoma**, a common pediatric tumor arising from **neural crest cells**. - Neuroblastoma typically presents as **abdominal masses** or **adrenal tumors** in young children, not as facial bone lesions. *erb-B* - The **erb-B (HER2/neu) oncogene** is associated with **breast carcinoma** and **gastric adenocarcinoma** in adults. - **erb-B overexpression** is linked to **epithelial malignancies** and is not associated with **B-cell lymphomas** or pediatric hematologic malignancies.

Q: In hemolytic anemia, what changes occur in the skull bones?

Diploic space widening. In chronic hemolytic anemias (such as Thalassemia major and Sickle Cell Anemia), the fundamental process is **Compensatory Erythroid Hyperplasia** [1]. To compensate for the shortened lifespan of red blood cells, the bone marrow undergoes massive expansion to increase erythropoiesis [1]. ### Why the correct answer is right: * **Diploic Space Widening:** The skull is a major site of hematopoiesis in children. As the bone marrow expands, it pushes against the inner and outer tables of the skull, leading to a significant **widening of the diploic space** (the spongy bone layer between the tables). * **Radiological Correlation:** This expansion causes the characteristic **"Crew-cut" or "Hair-on-end" appearance** on X-ray, as new bone trabeculae are laid down perpendicular to the skull tables [1]. ### Why the incorrect options are wrong: * **Outer Table Thickening:** In reality, the expanding marrow causes **thinning of the outer table** due to pressure atrophy [1]. The inner table is usually spared. * **Diploic Space Narrowing:** This occurs in conditions of osteosclerosis or aging, not in hemolytic anemia where marrow hypercellularity demands more space. ### NEET-PG High-Yield Pearls: 1. **Thalassemia Major:** Shows the most classic "Hair-on-end" appearance due to ineffective erythropoiesis and extreme marrow expansion [1]. 2. **Chipmunk Facies:** Marrow expansion also occurs in the maxillary bones, leading to prominent cheekbones and malocclusion of teeth [1]. 3. **Extramedullary Hematopoiesis:** When the marrow cannot keep up, the liver and spleen take over, leading to hepatosplenomegaly [1]. 4. **Paranasal Sinuses:** These are often obliterated by the expanding marrow, except for the ethmoid sinuses. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 644-649.

Q: Which of the following is NOT true about Fanconi's anemia?

Bone marrow hyperplasia. **Explanation:** Fanconi’s Anemia (FA) is a rare, autosomal recessive (primarily) genetic disorder characterized by genomic instability. The correct answer is **Option B** because Fanconi’s anemia leads to **bone marrow hypoplasia (aplasia)**, not hyperplasia. 1. **Why Option B is correct:** FA is the most common cause of inherited **Aplastic Anemia**. The genetic defect leads to a progressive depletion of hematopoietic stem cells, resulting in pancytopenia. Therefore, the bone marrow appears hypocellular (fatty replacement) rather than hyperplastic. 2. **Why Option A is incorrect:** FA is fundamentally a **DNA repair defect**. It involves mutations in the FANC gene family, which are responsible for repairing DNA interstrand cross-links. 3. **Why Option C is incorrect:** Approximately 75% of patients have **congenital anomalies**. Classic signs include radial ray defects (absent/hypoplastic thumb or radius), short stature, microcephaly, and café-au-lait spots. 4. **Why Option D is incorrect:** Due to chromosomal instability, there is a significantly **increased risk of malignancies**, particularly Acute Myeloid Leukemia (AML) and squamous cell carcinomas (head, neck, and anogenital). **High-Yield Clinical Pearls for NEET-PG:** * **Diagnostic Test:** Chromosomal breakage study using **Diepoxybutane (DEB)** or Mitomycin C (MMC). Cells show increased chromatid breaks. * **Physical Exam Triad:** Short stature + Thumb/Radial defects + Skin hyperpigmentation. * **Treatment:** Bone marrow transplant is the definitive treatment for hematologic complications.

Q: An infant presents with bony pain and dermatitis on the scalp. Skull X-ray and electron microscopy of a biopsy from a lesion are provided. What is the most probable diagnosis?

Langerhans cell histiocytosis. ***Langerhans cell histiocytosis*** - **Classic triad** in infants includes **bony lytic lesions**, **scalp dermatitis**, and **diabetes insipidus**, with skull X-ray showing characteristic **punched-out lesions**. - Electron microscopy reveals pathognomonic **Birbeck granules** (tennis racket-shaped organelles) within Langerhans cells, confirming the diagnosis. *Multiple myeloma* - Primarily affects **adults over 60 years**, making it extremely rare in infants and children. - Presents with **hypercalcemia**, **renal dysfunction**, and **anemia** rather than scalp dermatitis. *Thalassemia* - Characterized by **hemolytic anemia**, **splenomegaly**, and **growth retardation** due to defective hemoglobin synthesis. - Does not cause **lytic bone lesions** or **dermatitis**; instead shows **extramedullary hematopoiesis**. *Acute myeloid leukemia* - Presents with **pancytopenia**, **bleeding**, and **infections** due to bone marrow infiltration by malignant cells. - Does not typically cause **punched-out skull lesions** or **scalp dermatitis** seen in this case.

Q: Which of the following is not a cause of secondary polycythemia?

Myeloproliferative changes. Polycythemia is classified into **Primary** and **Secondary** types based on the serum Erythropoietin (EPO) levels and the underlying trigger for red cell production. **1. Why "Myeloproliferative changes" is the correct answer:** Myeloproliferative changes, specifically **Polycythemia Vera (PV)**, represent **Primary Polycythemia**. In PV, there is an autonomous, neoplastic proliferation of erythroid precursors in the bone marrow, usually due to a mutation in the **JAK2 gene** [1]. Because the production is independent of external stimuli, **serum EPO levels are characteristically low**. **2. Why the other options are incorrect (Causes of Secondary Polycythemia):** Secondary polycythemia occurs when red cell production is driven by **elevated EPO levels**. * **High Altitude (Option A):** Chronic hypoxia at high altitudes triggers the kidneys to release more EPO (physiologic compensation) to increase oxygen-carrying capacity [1]. * **Pheochromocytoma (Option C) & Cerebellar Hemangioblastoma (Option D):** These are classic examples of **inappropriate EPO secretion**. Certain tumors (including Renal Cell Carcinoma and Hepatocellular Carcinoma) ectopically produce EPO, leading to increased erythropoiesis. **Clinical Pearls for NEET-PG:** * **JAK2 V617F Mutation:** Present in >95% of Polycythemia Vera cases [1]. * **Diagnostic Clue:** If a patient has a high hematocrit and **low EPO**, think Primary (PV). If **high EPO**, think Secondary (Hypoxia or Tumor). * **Hyperviscosity:** Both types can present with headache, dizziness, and thrombosis, but **aquagenic pruritus** (itching after a hot bath) and **splenomegaly** are highly suggestive of Polycythemia Vera [1]. * **Rule of 4 (Tumors causing Secondary Polycythemia):** Renal Cell Carcinoma, Hepatoma, Cerebellar Hemangioblastoma, and Uterine Fibroids (and Pheochromocytoma).

Question 1

A 4-year-old African boy develops a rapidly enlarging mass that involves the right side of his face. Biopsies of this lesion are shown below. Which chromosomal translocation is associated with this neoplasm?

Accepted Answer

c-myc

Answer

bcl-2

Answer

N-myc

Answer

erb-B

Question 2

What is the cause of fragmented RBCs in peripheral blood?

Accepted Answer

Option 1, 2, and 4

Answer

Microangiopathic hemolytic anemia

Answer

Disseminated intravascular coagulation (DIC)

Answer

Malignant hypertension

Question 3

Which of the following is NOT true about Multiple Myeloma?

Accepted Answer

Protein casts in the urine are composed of complete immunoglobulin chains.

Answer

It involves clonal proliferation of plasma cells.

Answer

It is more common in individuals over 50 years of age.

Answer

Amyloidosis can be a complication.

Question 4

In hemolytic anemia, what changes occur in the skull bones?

Accepted Answer

Diploic space widening

Answer

Outer table thickening

Answer

Diploic space narrowing

Answer

None of the above

Question 5

CD19 positive, CD22 positive, CD103 positive monoclonal B-cells with bright kappa positivity were found to comprise 60% of the peripheral blood lymphoid cells on flow cytometric analysis in a 55-year-old man with massive splenomegaly and a total leucocyte count of 3.3 x 10^9/L. Which one of the following is the most likely diagnosis?

Accepted Answer

Hairy cell leukemia

Answer

Splenic lymphoma with villous lymphocytes

Answer

Mantle cell lymphoma

Answer

B-cell prolymphocytic leukemia

Question 6

Which of the following statements about stored blood is false?

Accepted Answer

It is a good source of platelets.

Answer

It can be stored for up to 40 days.

Answer

Potassium levels increase during storage.

Answer

Factors V and VIII are deficient in stored blood.

Question 7

Which of the following is NOT true about Fanconi's anemia?

Accepted Answer

Bone marrow hyperplasia

Answer

Defect in DNA repair

Answer

Congenital anomaly present

Answer

Increased chances of cancer

Question 8

An infant presents with bony pain and dermatitis on the scalp. Skull X-ray and electron microscopy of a biopsy from a lesion are provided. What is the most probable diagnosis?

Accepted Answer

Langerhans cell histiocytosis

Answer

Multiple myeloma

Answer

Thalassemia

Answer

Acute myeloid leukemia

Question 9

Which of the following is not a cause of secondary polycythemia?

Accepted Answer

Myeloproliferative changes

Answer

High Altitude

Answer

Pheochromocytoma

Answer

Cerebellar hemangioblastoma

Question 10

Which of the following is NOT a cause of Disseminated Intravascular Coagulation (DIC)?

Accepted Answer

Acute myeloid leukemia M1 subtype

Answer

Falciparum malaria

Answer

Trauma

Answer

Carcinoma of the pancreas

Hematopathology — MCQs

Hematopathology — MCQs

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