Hematopathology Practice Questions

Q: Which disease is characterized by the absence of the CD59 protein?

Paroxysmal Nocturnal Hemoglobinuria (PNH). ***PNH*** - CD59 is a **glycoprotein** that inhibits the formation of the membrane attack complex of the complement system, which is deficient in **Paroxysmal Nocturnal Hemoglobinuria (PNH)** [1][2]. - The presence of CD59 deficiency leads to **hemolysis** and manifestations like **dark urine**, especially in the morning [1]. *BRR* - Refers to **Bloom-Richardson Grade** in breast cancer pathology, not related to CD59. - It focuses more on **histological features** rather than specific **markers** like CD59. *PTEN* - PTEN is a **tumor suppressor gene** associated with various cancers, particularly in **Cowden syndrome** and **PTEN hamartoma syndrome**. - It does not relate to the **CD59 deficiency** found in PNH. *Cowden syndrome* - Cowden syndrome is linked to mutations in the **PTEN gene**, leading to numerous hamartomas and an increased risk for breast and thyroid cancers. - It does not exhibit any relationship with **CD59**, which is specifically associated with PNH. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 650-651. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 601-602.

Q: Which gene is commonly overexpressed in follicular lymphoma?

Bcl-2. ***Bcl- 2*** - Follicular lymphoma is characteristically associated with the **overexpression of Bcl-2** [1][2], which prevents apoptosis and contributes to oncogenesis [1][3]. - It is a result of the **t(14;18)** translocation, leading to the fusion of the Bcl-2 gene with the immunoglobulin heavy chain locus [1][2][3]. *Bcl-6* - While Bcl-6 is involved in the pathogenesis of some lymphomas, including **diffuse large B-cell lymphoma** [4], it is not a defining feature of follicular lymphoma. - Its positivity in follicular lymphoma cases does not correlate with the diagnosis. *None of the above* - This option is incorrect as there is a clear association with **Bcl-2** [1][2], which is pivotal in the pathology of follicular lymphoma. - Saying "none of the above" overlooks the critical marker essential for diagnosis. *Bcl-1* - Bcl-1 is primarily linked to **mantle cell lymphoma**, not follicular lymphoma, making it an unsuitable choice. - It is associated with **t(11;14)** translocations and has a different role in lymphoid malignancies compared to Bcl-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. 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. Neoplasia, pp. 310-311. [4] 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. 604.

Q: Which of the following statements about sideroblastic anemia is correct?

Prussian blue staining reveals ringed sideroblasts. ***Prussian blue staining reveals ringed sideroblasts*** - Sideroblastic anemia is characterized by the presence of **ringed sideroblasts** in the bone marrow, which are erythroblasts with iron granules accumulating in a ring around the nucleus. - These iron deposits are visible with **Prussian blue staining**, confirming the diagnosis. *Severity of the disease is influenced by ALA synthase activity* - While defects in **heme synthesis** can cause sideroblastic anemia, the severity is not primarily or solely determined by **ALA synthase activity**. - Sideroblastic anemias involve diverse genetic and acquired causes, affecting various enzyme steps and pathways, not just specifically ALA synthase. *All of the options are false* - This statement is incorrect because the presence of **ringed sideroblasts** seen with Prussian blue staining is a hallmark diagnostic feature of sideroblastic anemia, making that option true. - This option would only be true if all other statements were false, which is not the case here. *Pyridoxine supplementation is the definitive treatment for all types of sideroblastic anemia* - **Pyridoxine (vitamin B6)** is a cofactor for some enzymes in the heme synthesis pathway, and about one-third of congenital sideroblastic anemias respond to it. - However, it is not a definitive treatment for **all types of sideroblastic anemia**, especially acquired forms or those with specific genetic mutations not responsive to pyridoxine.

Q: Which of the following genes is most commonly mutated in Juvenile myelomonocytic leukemia (JMML)?

PTPN11. ***PTPN11*** - **PTPN11** encodes the SHP2 protein, a non-receptor protein tyrosine phosphatase that plays a crucial role in the **RAS-MAPK signaling pathway**. - **Germline or somatic mutations** in PTPN11 are found in approximately **35% of JMML cases**, making it the **most commonly mutated gene** in this disorder. - These gain-of-function mutations lead to constitutive activation of RAS signaling, driving the myeloproliferative phenotype characteristic of JMML. - PTPN11 mutations are also associated with **Noonan syndrome**, and patients with Noonan syndrome have an increased risk of developing JMML. *KRAS* - **KRAS** is a proto-oncogene encoding a GTPase in the RAS-MAPK pathway. Mutations cause constitutive activation and uncontrolled cell proliferation. - KRAS mutations are found in approximately **15-20% of JMML cases**, making it the **second most common** genetic alteration in this disease. - While definitely associated with JMML, KRAS mutations are **less frequent than PTPN11 mutations**. *PTEN* - **PTEN** is a tumor suppressor gene regulating the PI3K-AKT pathway, involved in various cancers including Cowden syndrome and endometrial cancer. - PTEN mutations are **not associated with JMML** pathogenesis. *APC* - The **APC gene** is a tumor suppressor in the Wnt signaling pathway, critical for colon epithelial regulation. - APC mutations cause **familial adenomatous polyposis (FAP)** and colorectal cancer, but are **not implicated in JMML**.

Q: Which of the following statements is false regarding beta thalassemia major?

Bone marrow iron is depleted. ***Bone marrow iron is depleted*** - In beta thalassemia major, patients typically experience **iron overload** due to repeated blood transfusions, leading to **depleted iron stores** in the bone marrow. - This finding contrasts with conditions where iron stores are preserved or increased, highlighting the pathology of thalassemia. *Growth and development is impaired* - While children with beta thalassemia major may experience growth delay, this statement is **not universally true** for all patients. - Factors such as treatment and iron overload management can influence growth and development outcomes. *Red cell count <4 x 10'2/L* - Normal red cell counts can occur in some patients, particularly in **transfusion-dependent cases**. - Thus, it is not a definitive characteristic of beta thalassemia major, as levels can vary. *Levels of HbA2 < 3.5%* - In beta thalassemia major, HbA2 levels are often **increased**, usually exceeding 3.5% [1]. - This distinguishes it from beta thalassemia trait, where HbA2 is elevated but not to the same extent as in major [1].

Q: Maximum life of transfused RBCs is

80-100 days. ***80-100 days*** - The maximum lifespan of **transfused red blood cells (RBCs)** is reduced compared to naturally occurring RBCs in vivo. - This is due to storage conditions and the age of the donated blood, leading to a shorter survival time post-transfusion. *110-120 days* - This range typically represents the **normal lifespan of red blood cells in the human body** *in vivo*, not the effective lifespan of transfused units. - Transfused RBCs undergo various changes during storage (storage lesion) that reduce their post-transfusion survival. *60-80 days* - While closer to the actual range for transfused RBCs, this is generally considered a slightly **underestimated maximum lifespan**. - The survival of transfused RBCs can vary, but good quality units usually last longer than 80 days. *50-60 days* - This range is typically too low for the maximum lifespan of transfused RBCs, indicating either **poor quality blood products** or significantly **prolonged storage times**. - Most transfused RBCs, when properly stored and handled, will survive for a longer duration post-transfusion.

Q: In which condition is thymic hyperplasia commonly observed?

Myasthenia gravis. ***Myasthenia gravis*** - Thymic hyperplasia is commonly associated with **myasthenia gravis**, particularly in **thymic enlargement** cases [1]. - This autoimmune condition often results in **autoantibody production** against acetylcholine receptors due to changes in the thymus [1]. *Scleroderma* - This condition primarily involves **skin thickening** and is characterized by **autoimmune fibrosis**, with no direct association with thymic hyperplasia. - Thymic changes are not a common finding or related to the pathophysiology of scleroderma. *Thymoma* - While thymoma can cause **thymic enlargement**, it is characterized more by **tumor formation** rather than hyperplasia. - Thymoma is a tumor of the thymus itself, which can be associated with myasthenia gravis, but does not represent **hyperplastic changes**. *Thymic lymphoma* - This is a malignancy of the thymus that presents as a mass rather than **hyperplastic tissue**. - Thymic lymphoma typically results in **destructive processes** rather than dietary overgrowth or hyperplasia of thymic tissue. **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, p. 634.

Q: Which oncogene is associated with Burkitt's lymphoma?

C-MYC. ***C-MYC*** - Burkitt's lymphoma is associated with the translocation involving the **C-MYC gene**, which drives cell proliferation [1]. - This oncogene is typically involved in the **t(8;14)** translocation, linking C-MYC to the immunoglobulin heavy chain locus [1]. *ALK* - The **ALK gene** is primarily associated with anaplastic large cell lymphoma and is not linked to Burkitt's lymphoma. - ALK rearrangements lead to mutations that result in uncontrolled growth in other lymphomas, but not in Burkitt's. *BCL-1, IgH* - **BCL-1** (also known as CCND1) is associated with mantle cell lymphoma and is linked to the **t(11;14)** translocation, not Burkitt's. - It primarily involves cyclin D1 overexpression in the tumor pathogenesis distinct from Burkitt's behavior. *BCL-2, IgH* - The **BCL-2 gene** is commonly associated with follicular lymphoma and contributes to anti-apoptotic functions, unrelated to Burkitt's. - Burkitt's typically shows rapid proliferation and high apoptosis, unlike the mechanisms driven by BCL-2. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Neoplasia, pp. 324-325.

Q: Which factor is primarily found in cryoprecipitate?

Factor VIII. ***Factor VIII*** - Cryoprecipitate is enriched with **Factor VIII**, essential for blood coagulation and hemophilia treatment [1]. - It also contains **fibrinogen**, **Factor XIII**, and von Willebrand factor, crucial for stable clot formation [1]. *Factor II* - Factor II, also known as **prothrombin**, is mainly found in **plasma**, not concentrated in cryoprecipitate. - It is not specifically extracted through cryoprecipitation, which focuses on fibrinogen and other factors. *Factor V* - Factor V is generally present in **plasma**, but not in significant amounts in cryoprecipitate. - It plays a role in the coagulation cascade but is not a primary component of cryoprecipitate. *Factor IX* - Factor IX is mainly associated with the **intrinsic pathway** of coagulation and is part of plasma, not concentrated in cryoprecipitate. - While it is vital for hemophilia B, it does not form part of the cryoprecipitate's key components. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 669-670.

Q: Which of the following statements about thrombotic thrombocytopenic purpura is false?

Grossly abnormal coagulation tests. ***Grossly abnormal coagulation tests*** - In thrombotic thrombocytopenic purpura (TTP), coagulation tests typically remain **normal**, which is a distinguishing factor from other conditions like disseminated intravascular coagulation (DIC) [1]. - The primary pathology in TTP is due to a deficiency in **ADAMTS13**, leading to the formation of large von Willebrand factor multimers without significant **coagulation abnormalities** [2]. *Normal complement level* - TTP is not associated with **complement system abnormalities**; often, complement levels are normal, unlike conditions such as **atypical hemolytic uremic syndrome**. - Increased activation or consumption of complement is not a typical feature in TTP, making this statement false. *Micro angiopathic hemolytic anemia* - Microangiopathic hemolytic anemia is a hallmark of TTP, resulting from the **shearing of erythrocytes** in the small vasculature due to thrombi formation [1,2]. - The presence of **schistocytes** on a peripheral blood smear is commonly observed in this condition, indicating this statement is true. *Thrombocytopenia* - TTP is characterized by severe **thrombocytopenia** resulting from the consumption of platelets during the formation of microthrombi [1,2]. - This condition often leads to **purpura** and increased bleeding tendencies due to low platelet counts, confirming this option is true. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 667-668. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Kidney, pp. 947-948.

Question 1

Which disease is characterized by the absence of the CD59 protein?

Accepted Answer

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Answer

Atypical Hemolytic Uremic Syndrome (aHUS)

Answer

Hereditary Spherocytosis

Answer

Autoimmune Hemolytic Anemia

Question 2

Which gene is commonly overexpressed in follicular lymphoma?

Accepted Answer

Bcl-2

Answer

Bcl-1

Answer

Bcl-6

Answer

None of the options

Question 3

Which of the following statements about sideroblastic anemia is correct?

Accepted Answer

Prussian blue staining reveals ringed sideroblasts

Answer

All of the options are false

Answer

Severity of the disease is influenced by ALA synthase activity

Answer

Pyridoxine supplementation is the definitive treatment for all types of sideroblastic anemia

Question 4

Which of the following genes is most commonly mutated in Juvenile myelomonocytic leukemia (JMML)?

Accepted Answer

PTPN11

Answer

KRAS

Answer

PTEN

Answer

APC

Question 5

Which of the following statements is false regarding beta thalassemia major?

Accepted Answer

Bone marrow iron is depleted

Answer

Growth and development is impaired

Answer

Red cell count is typically low

Answer

Levels of HbA2 are typically increased

Question 6

Maximum life of transfused RBCs is

Accepted Answer

80-100 days

Answer

60-80 days

Answer

50-60 days

Answer

110-120 days

Question 7

In which condition is thymic hyperplasia commonly observed?

Accepted Answer

Myasthenia gravis

Answer

Thymic carcinoma

Answer

Lambert-Eaton myasthenic syndrome

Answer

Thymic neoplasm

Question 8

Which oncogene is associated with Burkitt's lymphoma?

Accepted Answer

C-MYC

Answer

BCL-1 (IgH)

Answer

BCL-2 (IgH)

Answer

Anaplastic Lymphoma Kinase (ALK)

Question 9

Which factor is primarily found in cryoprecipitate?

Accepted Answer

Factor VIII

Answer

Factor II

Answer

Factor V

Answer

Factor IX

Question 10

Which of the following statements about thrombotic thrombocytopenic purpura is false?

Accepted Answer

Grossly abnormal coagulation tests

Answer

Microangiopathic hemolytic anemia

Answer

Thrombocytopenia

Answer

Normal complement level

Hematopathology — MCQs

Hematopathology — MCQs

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