Hematopathology Practice Questions

Q: Which of the following is the most common chromosomal abnormality associated with acute myeloid leukemia (AML) with a favorable prognosis?

t(15;17) - PML-RARA fusion. ***t(15;17)*** - This translocation defines **Acute Promyelocytic Leukemia (APL)**, a distinct and highly curable subtype of AML, making its prognosis the most favorable [1]. - It results in the expression of the chimeric **PML/RARA fusion gene**, which is highly sensitive to differentiation agents like **all-trans retinoic acid (ATRA)**, leading to high cure rates [1]. *t(8;21) and inv(16) are also associated with a favorable prognosis, but t(15;17) often has the best outcome* - The **t(8;21)** and **inv(16)**/t(16;16) are classified as favorable or core-binding factor (CBF) AMLs, indicating good responsiveness to chemotherapy [1]. - Prognosis for CBF AML is superior to intermediate-risk AML, but generally not as excellent as APL treated with ATRA and arsenic. *Monosomy 7 (-7)* - The loss of chromosome 7 is a hallmark chromosomal abnormality associated with the **adverse risk** group in AML, indicating a significantly poor prognosis. - It is frequently observed in patients with pre-existing **Myelodysplastic Syndrome (MDS)** or **therapy-related AML (t-AML)**. *t(9;22)* - While this translocation is famous for defining **Chronic Myeloid Leukemia (CML)** (leading to the **BCR-ABL1** fusion gene), its presence in AML is generally associated with a complex karyotype or mixed-phenotype acute leukemia. - Its presence in AML usually confers a less favorable or **adverse prognosis**, unlike the highly favorable t(15;17). **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.

Q: A lymphoma characterized by the presence of centrocytes and centroblasts, along with BCL2 positivity and CD10 expression, is most commonly associated with which chromosomal translocation?

t(14 ; 18). ***t(14 ; 18)*** [1], [2] - This translocation is the genetic hallmark of **Follicular Lymphoma (FL)**, characterized by the presence of **centrocytes** and **centroblasts**, **BCL2 positivity**, and **CD10 expression** [1], [2]. - It results in the juxtaposition of the **BCL2 gene** (on chromosome 18) with the **IgH locus** (on chromosome 14), leading to constitutive overexpression of the anti-apoptotic BCL2 protein [1], [2]. *t(2 ; 5)* - This translocation is characteristic of **Anaplastic Large Cell Lymphoma (ALCL)**, leading to the activation of the **ALK gene**. - ALCL is typically **CD30 positive** and lacks the centrocytes/centroblasts morphology and germinal center markers (like CD10) seen in the described B-cell lymphoma. *t(11 ; 14)* - This translocation is associated with **Mantle Cell Lymphoma (MCL)**, causing the overexpression of **Cyclin D1**. - While MCL cells are often BCL2 positive, they typically lack **CD10 expression**, which is a key feature of the described germinal center lymphoma. *t(8 ; 14)* - This translocation is the hallmark of **Burkitt Lymphoma**, resulting in **MYC gene** overexpression. - Burkitt Lymphoma is typically **CD10 positive** but shows a high proliferation index (Ki-67 ~100%) and lacks BCL2 expression [3], unlike the described follicular lymphoma. **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. [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. 606.

Q: Which of the following hematological findings are seen in pregnant women with thalassemia trait?

Raised HbA₂ and low MCV. ***Raised HbA₂ and low MCV*** - Beta-thalassemia trait is characterized by a **compensatory increase in HbA₂** (alpha2-delta2 globin chains) synthesis and **microcytic (low MCV)** red blood cells [1]. - This combination is a classic finding that helps differentiate thalassemia trait from iron deficiency anemia in pregnant women. *Low serum total iron binding capacity* - **Low total iron binding capacity (TIBC)** is typically seen in **anemia of chronic disease**, where iron stores are often adequate or high. - In thalassemia trait, iron stores are usually normal or increased, and TIBC is usually normal or slightly increased. *Low HbA₂ and raised MCV* - **Low HbA₂** is seen in alpha-thalassemia trait or iron deficiency anemia, not beta-thalassemia trait [2]. - **Raised MCV (macrocytosis)** is characteristic of conditions like **folate or B12 deficiency** or megaloblastic anemia, which is not associated with uncomplicated thalassemia trait [1]. *Low MCHC* - **Low MCHC (mean corpuscular hemoglobin concentration)** indicates hypochromic red blood cells and is found in various microcytic anemias, including **iron deficiency anemia** [1]. - While it can be present in thalassemia trait, it is not as specific as the combination of **raised HbA₂** and **low MCV** for distinguishing beta-thalassemia trait from other microcytic conditions [2]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 588-591. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 649-650.

Q: Basophilic stippling of the RBCs is a sensitive index of

Lead poisoning. ***Correct: Lead poisoning*** - **Basophilic stippling** is a classic and sensitive hematologic finding in lead poisoning [1] - Results from inhibition of **pyrimidine 5'-nucleotidase**, which impairs RNA degradation in red blood cells - The presence of these **ribonucleoprotein granules** indicates defective heme synthesis and red cell maturation due to lead toxicity [1] - Other findings in lead poisoning include microcytic anemia and increased zinc protoporphyrin [1] *Incorrect: Silicosis* - A **lung disease** caused by inhaling **silica dust**, leading to pulmonary fibrosis and nodular lesions [2] - Does not primarily affect red blood cell morphology or cause basophilic stippling - Findings are limited to the respiratory system *Incorrect: Asbestosis* - A chronic **lung disease** caused by inhaling **asbestos fibers**, resulting in pulmonary fibrosis [2] - Does not directly cause changes in red blood cell morphology such as basophilic stippling - Associated with pleural plaques and increased risk of mesothelioma [2] *Incorrect: Arsenic poisoning* - Can cause various hematologic abnormalities including **anemia** and **pancytopenia** - **Not typically associated** with prominent basophilic stippling as a key diagnostic feature - Neurological symptoms (peripheral neuropathy), gastrointestinal symptoms, and dermatological findings (Mees' lines, hyperpigmentation) are more characteristic **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Infectious Diseases, pp. 418-420. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Lung, pp. 695-699.

Q: Which of the following blood components has the shortest shelf life?

Platelets. ***Platelets*** - **Platelets** have the shortest shelf life among the listed blood components, typically stored for **5 days** at room temperature with continuous agitation. - Their short shelf life is due to the risk of **bacterial contamination** and reduced therapeutic efficacy over time. *Fresh frozen plasma* - **Fresh frozen plasma (FFP)** can be stored for up to **1 year** at temperatures of -18°C or colder. - Once thawed, it must be used within **24 hours** if stored at 1-6°C. *Cryoprecipitate* - **Cryoprecipitate**, like FFP, can be stored for up to **1 year** at -18°C or colder. - After thawing, it is stable for **6 hours** at room temperature or **24 hours** if pooled and stored at room temperature. *Red Blood Cells* - **Red blood cells (RBCs)**, when stored in additive solutions, have a shelf life of up to **42 days** at 1-6°C. - This longer shelf life is due to specialized storage conditions that minimize metabolic activity and preserve cell integrity.

Q: An elderly male patient presented with clinical symptoms and signs consistent with possible multiple myeloma. Electrophoresis shows an M spike, and immunofixation findings are shown below. Which of the following statements best corresponds to the findings?

Multiple myeloma with increased IgG. ***Multiple myeloma with increased IgG*** - The immunofixation image shows a distinct, *monoclonal band (M spike)* in the **IgG lane (G)**, corresponding to the initial electrophoresis (ELP) M spike [1]. There is also a corresponding band in the **kappa light chain (K)** lane [1]. - The presence of a dominant band in IgG, along with a matching light chain (either kappa or lambda), indicates an **IgG monoclonal gammopathy**, which is characteristic of the most common type of multiple myeloma [1]. *Multiple myeloma with increased IgM* - This option would correspond to a strong, monoclonal band in the **IgM lane (M)**, which is not the case here. The 'M' lane in the image shows a faint/normal band, not an increased M spike. - Increased IgM monoclonal protein (M spike) is characteristic of **Waldenström macroglobulinemia**, not typically multiple myeloma [2]. *Multiple myeloma with increased IgA* - If the patient had IgA multiple myeloma, there would be a prominent monoclonal band in the **IgA lane (A)**, which is not observed in this immunofixation result. The 'A' lane shows a considerably smaller band compared to IgG. - IgA multiple myeloma is a less common subtype than IgG myeloma and would present with an IgA M spike [1]. *Waldenström macroglobulinemia* - Waldenström macroglobulinemia is characterized by a monoclonal gammopathy of the **IgM type**, which would present as a distinct M spike in the IgM lane [2]. - The immunofixation clearly shows an **IgG M spike**, ruling out Waldenström macroglobulinemia based on the type of monoclonal gammopathy [2]. **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. 608-609. [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. 606-607.

Q: Identify the image and the disease it is associated with: ![img-30.jpeg](img-30.jpeg)

Gaucher's disease. ***Gaucher's disease*** - The image shows **Gaucher cells** - characteristic lipid-laden macrophages with a distinctive **"crumpled tissue paper" or "wrinkled silk" cytoplasmic appearance** and eccentric nuclei [1] - These cells are pathognomonic for **Gaucher's disease**, an **autosomal recessive lysosomal storage disorder** caused by **glucocerebrosidase deficiency** [1] - Accumulation of **glucocerebroside** in macrophages creates the characteristic morphology seen in bone marrow, spleen, and liver [1] - Caused by mutations in the *GBA* gene on chromosome 1 [1] *Tay-Sachs disease* - Autosomal recessive disorder caused by **hexosaminidase A deficiency** leading to **GM2 ganglioside accumulation** [2] - Characteristic findings include **cherry-red spot on macula** and neuronal ballooning, not the macrophage changes seen in this image [2] - Does not produce Gaucher cells *Sandhoff's disease* - Caused by deficiency of both **hexosaminidase A and B** due to *HEXB* gene mutations - Similar to Tay-Sachs with GM2 ganglioside accumulation affecting neurons - Does not produce the characteristic macrophage morphology shown in the image *Fabry's disease* - **X-linked recessive** disorder caused by **alpha-galactosidase A deficiency** - Accumulation of **globotriaosylceramide** in vascular endothelial cells - Histology may show lipid deposits in vessels and kidney, not the distinctive Gaucher cells seen here **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, p. 161.

Question 1

Which of the following is the most common chromosomal abnormality associated with acute myeloid leukemia (AML) with a favorable prognosis?

Accepted Answer

t(15;17) - PML-RARA fusion

Answer

t(8;21) - RUNX1-RUNX1T1 fusion

Answer

t(9;22) - BCR-ABL fusion

Answer

Trisomy 21

Question 2

A 68-year-old man presents with bleeding manifestations. Peripheral smear shows the presence of cells shown below. Which of the following is the most common chromosomal abnormality seen in this condition?

Accepted Answer

t(15 ; 17)

Answer

t(14 ; 18)

Answer

inv(16)

Answer

t(8 ; 21)

Question 3

Which of the following laboratory techniques is most commonly used to compare and quantify CD markers on cells?

Accepted Answer

Flow cytometry

Answer

Western blot

Answer

ELISA

Answer

Immunohistochemistry

Question 4

A lymphoma characterized by the presence of centrocytes and centroblasts, along with BCL2 positivity and CD10 expression, is most commonly associated with which chromosomal translocation?

Accepted Answer

t(14 ; 18)

Answer

t(2 ; 5)

Answer

t(11 ; 14)

Answer

t(8 ; 14)

Question 5

Which of the following hematological findings are seen in pregnant women with thalassemia trait?

Accepted Answer

Raised HbA₂ and low MCV

Answer

Low serum total iron binding capacity

Answer

Low MCHC

Answer

Low HbA₂ and raised MCV

Question 6

Folic acid deficiency is characterized by the following features except

Accepted Answer

Microcytes

Answer

Macrocytes

Answer

Howell-Jolly bodies

Answer

Hypersegmented neutrophils

Question 7

Basophilic stippling of the RBCs is a sensitive index of

Accepted Answer

Lead poisoning

Answer

Silicosis

Answer

Asbestosis

Answer

Arsenic poisoning

Question 8

Which of the following blood components has the shortest shelf life?

Accepted Answer

Platelets

Answer

Fresh frozen plasma

Answer

Cryoprecipitate

Answer

Red Blood Cells

Question 9

An elderly male patient presented with clinical symptoms and signs consistent with possible multiple myeloma. Electrophoresis shows an M spike, and immunofixation findings are shown below. Which of the following statements best corresponds to the findings?

Accepted Answer

Multiple myeloma with increased IgG

Answer

Multiple myeloma with increased IgM

Answer

Multiple myeloma with increased IgA

Answer

Waldenström macroglobulinemia

Question 10

Identify the image and the disease it is associated with:
![img-30.jpeg](img-30.jpeg)

Accepted Answer

Gaucher's disease

Answer

Tay-Sachs disease

Answer

Sandhoff's disease

Answer

Fabry's disease

Hematopathology — MCQs

Hematopathology — MCQs

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