Hematopathology Practice Questions

Q: Chloroma is a manifestation of which hematologic malignancy?

Acute Myeloid Leukemia (AML). **Explanation:** **Chloroma**, also known as **Granulocytic Sarcoma** or Myeloid Sarcoma, is an extramedullary solid tumor mass composed of primitive myeloid cells (leukemic blasts). It is a classic manifestation of **Acute Myeloid Leukemia (AML)** [1]. 1. **Why AML is Correct:** The term "Chloroma" is derived from the Greek word *chloros* (green), referring to the greenish hue the tumor often exhibits. This color is due to the high concentration of **Myeloperoxidase (MPO)**, an enzyme found in myeloid cells. It most commonly involves the bone, periosteum, soft tissues, and lymph nodes. It can occur concurrently with AML, as a relapse, or occasionally as a precursor to systemic marrow involvement [1]. 2. **Why Other Options are Incorrect:** * **CLL & ALL:** These are lymphoid malignancies. Lymphoid cells lack Myeloperoxidase; therefore, they do not produce the characteristic green pigment or form granulocytic sarcomas. * **Non-Hodgkin’s Lymphoma:** While NHL presents as solid masses (lymphadenopathy or extranodal masses), these are composed of mature or immature lymphocytes, not myeloid precursors. **High-Yield Clinical Pearls for NEET-PG:** * **Most Common Association:** Chloromas are most frequently associated with **AML-M2** (with t(8;21)) and **AML-M4/M5** subtypes [1]. * **Common Site:** In children, the **orbit** is a classic site of involvement, leading to proptosis. * **Histochemistry:** The tumor cells will stain positive for **MPO**, Sudan Black B, and CD34. * **Prognostic Significance:** The presence of a chloroma in a patient with AML generally signifies a poor prognosis or advanced disease stage. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 607-611.

Q: Wrinkled paper appearance of macrophage in bone marrow aspirate is characteristic of which condition?

Gaucher disease. **Explanation** **Gaucher disease** is the correct answer because it is characterized by the accumulation of glucocerebroside within macrophages due to a deficiency of the enzyme **glucocerebrosidase** (β-glucosidase). These lipid-laden macrophages are known as **Gaucher cells**. Under light microscopy, the cytoplasm of these cells has a classic **"wrinkled paper"** or **"crumpled silk"** appearance [1]. This unique morphology is caused by the intralysosomal accumulation of tubular bimolecular leaflets of glucocerebroside [1]. **Analysis of Incorrect Options:** * **A. Niemann-Pick disease:** This condition involves a deficiency of sphingomyelinase. The characteristic cells are **"foamy macrophages"** (vacuolated cytoplasm) rather than wrinkled ones [2]. * **C. Hemophagocytic lymphohistiocytosis (HLH):** This is characterized by activated macrophages engulfing erythrocytes, leukocytes, and platelets (**hemophagocytosis**), not lipid accumulation. * **D. Langerhans cell histiocytosis:** This features Birbeck granules (tennis-racket shaped) on electron microscopy and cells with grooved, **"coffee-bean"** nuclei, not wrinkled cytoplasm. **High-Yield Clinical Pearls for NEET-PG:** * **Gaucher Disease** is the most common lysosomal storage disorder. * **Biomarker:** Serum **ACE levels** and **TRAP** (Tartrate-resistant acid phosphatase) are often elevated. * **Clinical Triad:** Hepatosplenomegaly, bone involvement (Erlenmeyer flask deformity of the femur), and pancytopenia [1]. * **Pseudo-Gaucher cells:** These can be seen in conditions with high cell turnover, such as **Chronic Myeloid Leukemia (CML)** and Multiple Myeloma. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 162-163. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 161-162.

Q: In the investigation of a patient with suspected essential thrombocythaemia, in which of the following genes may you find abnormalities?

CAL-R. **Explanation:** Essential Thrombocythaemia (ET) is a chronic myeloproliferative neoplasm (MPN) characterized by the autonomous overproduction of platelets [1]. The pathogenesis involves mutations that lead to constitutive activation of the **JAK-STAT signaling pathway**, driving megakaryopoiesis [1]. **1. Why CAL-R is correct:** Approximately 90% of ET cases are driven by one of three "driver mutations": * **JAK2 (V617F):** Present in ~50-60% of cases [1]. * **CALR (Calreticulin):** Found in ~25-30% of cases (specifically in those who are JAK2 negative) [1]. * **MPL:** Found in ~3-5% of cases [1]. **CALR** mutations (typically insertions or deletions in Exon 9) result in a mutant protein that activates the thrombopoietin receptor (MPL), leading to uncontrolled platelet production [1]. **2. Why the other options are incorrect:** * **BCL-2:** An anti-apoptotic protein associated with **Follicular Lymphoma** due to the t(14;18) translocation. * **BCR:** Part of the **BCR-ABL1** fusion gene (Philadelphia chromosome) seen in **Chronic Myeloid Leukemia (CML)** [1]. ET is specifically defined by the *absence* of the BCR-ABL1 rearrangement. * **c-MYC:** A proto-oncogene associated with **Burkitt Lymphoma** due to the t(8;14) translocation. **Clinical Pearls for NEET-PG:** * **Triple Negative ET:** Refers to the ~10% of patients who lack JAK2, CALR, and MPL mutations. * **Morphology:** Bone marrow shows increased numbers of enlarged, mature megakaryocytes with "staghorn" or deeply lobulated nuclei [1]. * **Clinical Feature:** Erythromelalgia (burning pain and erythema of hands/feet) is a classic symptom due to microvascular occlusion. * **Prognosis:** CALR-mutated ET generally has a lower risk of thrombosis compared to JAK2-mutated ET. **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. 627-628.

Question 1

Marked bleeding is seen in which of the following conditions?

Accepted Answer

All of the above

Answer

VMA disease

Answer

Haemophilia A

Answer

Haemophilia B

Question 2

Which of the following is NOT typically seen in sickle cell disease?

Accepted Answer

Moderate to massive splenomegaly

Answer

Gamma Gandy bodies

Answer

Fish mouth vertebra

Answer

Decreased ESR

Question 3

Chloroma is a manifestation of which hematologic malignancy?

Accepted Answer

Acute Myeloid Leukemia (AML)

Answer

Chronic Lymphocytic Leukemia (CLL)

Answer

Acute Lymphoblastic Leukemia (ALL)

Answer

Non-Hodgkin's Lymphoma

Question 4

Which disease is characterized by insidious onset and an absolute increase in the number of circulating RBCs and in total blood volume?

Accepted Answer

Osler's disease

Answer

Leukopenia

Answer

Mediterranean disease

Answer

Aplastic anaemia

Question 5

Basophilic stippling is seen in poisoning with what substance?

Accepted Answer

Lead

Answer

Arsenic

Answer

Copper

Answer

Phosphorous

Question 6

In multiple myeloma, which anatomical location is most commonly involved?

Accepted Answer

Bone marrow

Answer

Cortex of bone

Answer

Metaphyses

Answer

Epiphyses

Question 7

In hemolytic anemias, what happens to the urobilinogen level in the blood?

Accepted Answer

Increase

Answer

Be absent

Answer

Decrease

Answer

Mildly decrease

Question 8

Hereditary spherocytosis is due to deficiency of which protein?

Accepted Answer

Ankyrin

Answer

Actin

Answer

Selectin

Answer

Integrin

Question 9

Wrinkled paper appearance of macrophage in bone marrow aspirate is characteristic of which condition?

Accepted Answer

Gaucher disease

Answer

Niemann-Pick disease

Answer

Hemophagocytic lymphohistiocytosis

Answer

Langerhans cell histiocytosis

Question 10

In the investigation of a patient with suspected essential thrombocythaemia, in which of the following genes may you find abnormalities?

Accepted Answer

CAL-R

Answer

BCL-2

Answer

BCR

Answer

c-MYC

Hematopathology — MCQs

Hematopathology — MCQs

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