Hematopathology Practice Questions

Q: Spot the diagnosis?

Megaloblastic anemia. ***Megaloblastic anemia*** - Characterized by **macro-ovalocytes** (large oval-shaped RBCs) and **hypersegmented neutrophils** (>5 nuclear lobes) on peripheral blood smear. - Results from **vitamin B12** or **folate deficiency**, leading to impaired DNA synthesis and abnormal cell morphology. *Thalassemia* - Shows **microcytic hypochromic** RBCs with **target cells** and **teardrop cells** on peripheral smear. - Caused by **globin chain synthesis defects**, not vitamin deficiencies, resulting in smaller cell size. *Dimorphic anemia* - Presents with a **mixed population** of both **microcytic** and **macrocytic** RBCs on the same smear. - Often seen in **combined deficiencies** (iron + B12/folate) or **sideroblastic anemia**, showing dual cell populations. *G6PD deficiency* - Demonstrates **bite cells** and **blister cells** during hemolytic crises triggered by oxidative stress. - **Heinz bodies** may be visible with special stains, representing precipitated hemoglobin within RBCs.

Q: Spur cells are seen in which of the following conditions?

None of the above. **Explanation:** The correct answer is **None of the above** because the options provided list conditions typically associated with **Burr cells (Echinocytes)** rather than **Spur cells (Acanthocytes)**. **1. Understanding the Difference:** * **Spur Cells (Acanthocytes):** These are RBCs with a few irregularly spaced, thorny projections of varying lengths. They result from an imbalance in membrane lipids (increased cholesterol-to-phospholipid ratio). They are classically seen in **Abetalipoproteinemia** and **Severe Liver Disease** (specifically "Spur Cell Anemia" in cirrhosis). * **Burr Cells (Echinocytes):** These are RBCs with multiple, short, blunt, and *uniformly* spaced projections. They are typically seen in **Uremia**, **Gastric Carcinoma**, and **Hepatocellular Carcinoma**. **2. Analysis of Options:** * **Option A (Uremia):** This is the classic association for **Burr cells**. The metabolic changes in renal failure alter the osmotic environment, leading to uniform crenation of the RBC membrane. * **Option B & C (HCC and Gastric Carcinoma):** Microangiopathic changes or metabolic disturbances in these malignancies frequently lead to the formation of **Burr cells**, not spur cells. **3. High-Yield Clinical Pearls for NEET-PG:** * **Mnemonic for Burr Cells:** "**U**nder **G**raduate **H**ematology" (**U**remia, **G**astric Carcinoma, **H**CC/Liver disease). * **Mnemonic for Spur Cells:** "**A**canthocytes = **A**betalipoproteinemia." * **Key Distinction:** Burr cells are often reversible (can revert to normal shape in healthy plasma), whereas Spur cells are irreversible due to permanent membrane remodeling by the spleen.

Q: A 50-year-old man presents with fever and diffuse lymphadenopathy. A lymph node biopsy reveals non-Hodgkin follicular lymphoma. Immunohistochemical staining of neoplastic lymphoid cells within the nodular areas of the lymph node would be expected to stain positively for which of the following protein markers?

Bcl-2. Explanation: Follicular Lymphoma (FL) is a B-cell neoplasm characterized by the translocation t(14;18)(q32;q21) [1, 2]. This translocation moves the BCL-2 gene from chromosome 18 to the immunoglobulin heavy chain (IgH) locus on chromosome 14 [1]. 1. Why Bcl-2 is correct: Under normal physiological conditions, germinal center B-cells are Bcl-2 negative to allow for apoptosis of cells that fail selection. In FL, the t(14;18) translocation leads to the overexpression of Bcl-2, an anti-apoptotic protein [1, 2]. This prevents programmed cell death, leading to the accumulation of neoplastic B-cells [2]. Immunohistochemistry (IHC) showing Bcl-2 positivity within the follicles is diagnostic, as it distinguishes FL from reactive follicular hyperplasia (where follicles are Bcl-2 negative) [1]. 2. Why other options are incorrect: * Abl: Associated with the t(9;22) Philadelphia chromosome, seen in Chronic Myeloid Leukemia (CML) and some cases of ALL. * Bax: A pro-apoptotic member of the Bcl-2 family. Overexpression of Bax would promote cell death, the opposite of what occurs in lymphoma. * Myc: Associated with the t(8;14) translocation, which is the hallmark of Burkitt Lymphoma, leading to rapid cellular proliferation. High-Yield Pearls for NEET-PG: * Morphology: Characterized by centrocytes (cleaved cells) and centroblasts [2]. * IHC Profile: CD19+, CD20+, CD10+, Bcl-2+, and Bcl-6+. Notably, it is CD5 negative (distinguishing it from CLL/SLL and Mantle Cell Lymphoma). * Clinical Course: Indolent (painless lymphadenopathy) but can transform into Diffuse Large B-cell Lymphoma (Richter-like transformation). **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. 602-604. [2] 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.

Q: HbE is common in which region of India?

Bengal. **Explanation:** **Hemoglobin E (HbE)** is a structural hemoglobin variant caused by a point mutation in the $\beta$-globin chain (substitution of glutamic acid by lysine at position 26). It is the most common hemoglobin variant in Southeast Asia and is highly prevalent in the **Eastern and North-Eastern regions of India**, particularly in **Bengal**, Assam, and Odisha. * **Bengal (Correct):** The gene frequency of HbE in West Bengal ranges from 3% to 10%. It is often found in the form of **E-$\beta$ Thalassemia**, which clinically presents as a condition similar to Thalassemia Intermedia or Major. * **Punjab (Incorrect):** This region is more commonly associated with a high prevalence of **$\beta$-Thalassemia trait** and **HbS (Sickle cell)** in specific tribal pockets, but not HbE. * **Kerala (Incorrect):** While hemoglobinopathies exist in South India, the prevalence of HbE is negligible compared to the Eastern belt. * **Maharashtra (Incorrect):** This region (specifically the Vidarbha belt) is a high-prevalence zone for **Sickle Cell Disease (HbS)** and $\beta$-Thalassemia, but HbE is not the dominant variant here. **High-Yield NEET-PG Pearls:** 1. **Electrophoresis:** On alkaline electrophoresis (pH 8.6), HbE migrates with **HbA2 and HbC** (Mnemonic: **A2CE** stay together). 2. **Morphology:** Peripheral smear typically shows **Target cells** and microcytic hypochromic indices. 3. **Protection:** Like HbS and Thalassemia, HbE is thought to provide a selective survival advantage against *Plasmodium falciparum* malaria. 4. **HbE-Thalassemia:** This is the most common cause of transfusion-dependent thalassemia in many parts of Eastern India.

Q: Which syndrome is not associated with leukemia?

Turner syndrome. **Explanation:** The correct answer is **Turner Syndrome (45, XO)**. Unlike the other options, Turner syndrome is a sex chromosome aneuploidy characterized by the absence of one X chromosome. It is primarily associated with congenital heart defects (coarctation of the aorta), short stature, and gonadal dysgenesis, but it does **not** carry an increased risk for leukemia. **Why the other options are incorrect:** * **Bloom Syndrome:** This is an autosomal recessive disorder caused by a mutation in the *BLM* gene (DNA helicase). It leads to chromosomal instability and "sister chromatid exchanges," significantly increasing the risk of various malignancies, particularly **Acute Myeloid Leukemia (AML)**. * **Down Syndrome (Trisomy 21):** This is the most high-yield association. Children with Down syndrome have a 10–20 fold increased risk of leukemia [1]. Specifically, they are prone to **Acute Megakaryoblastic Leukemia (AML-M7)** before age 3 and **Acute Lymphoblastic Leukemia (ALL)** after age 3. * **Ataxia Telangiectasia:** This is a DNA repair defect (ATM gene mutation). Patients have increased sensitivity to ionizing radiation and chromosomal instability, leading to a high predisposition for **T-cell ALL** and lymphomas. **NEET-PG High-Yield Pearls:** * **DNA Repair Defects:** Bloom syndrome, Fanconi anemia, and Ataxia telangiectasia are all "Chromosomal Breakage Syndromes" that predispose to leukemia. * **Down Syndrome Mnemonic:** Remember **"7 before 3, ALL after 3"** (M7 subtype of AML is common in those under 3 years old). * **Neurofibromatosis Type 1:** Also associated with an increased risk of Juvenile Myelomonocytic Leukemia (JMML). **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 170-172.

Question 1

Spot the diagnosis?

Accepted Answer

Megaloblastic anemia

Answer

Thalassemia

Answer

Dimorphic anemia

Answer

G6PD deficiency

Question 2

Spur cells are seen in which of the following conditions?

Accepted Answer

None of the above

Answer

Uremia

Answer

Hepatocellular carcinoma

Answer

Gastric carcinoma

Question 3

A 48-year-old woman complains of weakness, fatigue, and easy bruisability for 2 months. She had worked as a technician in a nuclear energy plant for 15 years and was involved in an accident during which she was exposed to considerable radiation. Physical examination reveals an enlarged liver and spleen. What disease is the likely cause of her condition?

Accepted Answer

Chronic myelogenous leukemia

Answer

Hairy cell leukemia

Answer

Metastatic carcinoma of the breast

Answer

Metastatic carcinoma of the stomach

Question 4

What is the reason for hydrops fetalis in Hb Barts disease?

Accepted Answer

Hb Barts cannot release oxygen to fetal tissues

Answer

Hb Barts cannot bind oxygen

Answer

Excess alpha-globin chains form insoluble precipitates

Answer

Microcytic red cells become trapped in the placenta

Question 5

A patient presents with Hb level 6 g/dL, TLC 3500/mm
3, and platelet count 50,000/mm
3. What is the most probable diagnosis?

Accepted Answer

Aplastic anemia

Answer

Leukemia

Answer

Multiple myeloma

Answer

Megaloblastic anemia

Question 6

A 50-year-old man presents with fever and diffuse lymphadenopathy. A lymph node biopsy reveals non-Hodgkin follicular lymphoma. Immunohistochemical staining of neoplastic lymphoid cells within the nodular areas of the lymph node would be expected to stain positively for which of the following protein markers?

Accepted Answer

Bcl-2

Answer

Abl

Answer

Bax

Answer

Myc

Question 7

HbE is common in which region of India?

Accepted Answer

Bengal

Answer

Punjab

Answer

Kerala

Answer

Maharashtra

Question 8

The most striking haematological finding in agranulocytosis is?

Accepted Answer

Decreased absolute neutrophil count

Answer

Increased absolute eosinophil count

Answer

Decreased absolute basophil count

Answer

Increased absolute monocyte count

Question 9

Which syndrome is not associated with leukemia?

Accepted Answer

Turner syndrome

Answer

Bloom syndrome

Answer

Down syndrome

Answer

Ataxia telangiectasia

Question 10

What is the best screening test for hemophilia?

Accepted Answer

Partial Thromboplastin Time (PTT)

Answer

Prothrombin Time (PT)

Answer

Clotting Time (CT)

Answer

Bleeding Time (BT)

Hematopathology — MCQs

Hematopathology — MCQs

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