Hematopathology Practice Questions

Q: TEL-AML1 fusion is associated with?

ALL. ***ALL*** - The **TEL-AML1 fusion gene** (also known as ETV6-RUNX1) is a common chromosomal abnormality found in approximately 25% of cases of **B-cell precursor acute lymphoblastic leukemia (ALL)**, particularly in children. - This fusion creates an abnormal protein that interferes with normal blood cell development, leading to the uncontrolled proliferation of immature lymphocytes characteristic of ALL. *CLL* - **Chronic lymphocytic leukemia (CLL)** is a cancer of mature lymphocytes, specifically B cells, and is not associated with the TEL-AML1 fusion. - Typical genetic abnormalities in CLL include deletions or mutations in chromosomes 13q, 17p, 11q, and trisomy 12. *CML* - **Chronic myeloid leukemia (CML)** is characterized by the presence of the **Philadelphia chromosome (BCR-ABL1 fusion gene)**, which results from a translocation between chromosomes 9 and 22. - CML is a myeloproliferative neoplasm affecting myeloid stem cells, distinct from the lymphoid origin of ALL. *AML* - **Acute myeloid leukemia (AML)** involves the myeloid lineage and is associated with various chromosomal translocations and mutations, but **TEL-AML1 fusion is not characteristic of AML**. - Common genetic alterations in AML include t(8;21), inv(16), t(15;17) (PML-RARA), and mutations in FLT3, NPM1, or CEBPA.

Q: Left shift in Arneth's count is seen in?

Septicemia. ***Septicemia*** - A **left shift** indicates a higher proportion of **immature neutrophils (bands or metamyelocytes)** in the blood, which is a hallmark of the body rapidly producing white blood cells to fight severe bacterial infections like **septicemia**. - This response is due to overwhelming bacterial load and systemic inflammation, prompting the bone marrow to release less mature neutrophils into circulation. *Megaloblastic anemia* - Characterized by **hypersegmented neutrophils** (a right shift), not a left shift, due to impaired DNA synthesis and delayed nuclear maturation. - The primary defect is in red blood cell production, although white blood cell morphology can also be affected. *Liver disease* - Liver disease does not typically cause a left shift in the Arneth count; instead, it can lead to various hematological abnormalities, including **anemia**, **thrombocytopenia**, or altered coagulation factors. - Neutrophil counts might fluctuate, but a sustained left shift is not a characteristic feature. *TB* - Tuberculosis usually causes a mild to moderate **neutrophilic leukocytosis** and sometimes a **monocytosis**, but a significant **left shift** is not a characteristic feature unless there is a severe acute exacerbation or secondary bacterial infection. - Chronic infections like TB are more often associated with changes like monocytosis or lymphocytosis.

Q: Richter's syndrome refers to which of the following malignant transformations?

CLL evolving into aggressive lymphoma. ***CLL evolving into aggressive lymphoma*** - **Richter's transformation** specifically describes the malignant transformation of Chronic Lymphocytic Leukemia (CLL) into a more aggressive form of B-cell non-Hodgkin lymphoma, most commonly **diffuse large B-cell lymphoma (DLBCL)**. - This transformation is characterized by a rapid clinical decline, palpable lymphadenopathy, and splenomegaly, with a distinct change in morphology and immunophenotype of the malignant cells. *Hairy cell leukemia evolving to AML* - Hairy cell leukemia (HCL) is a chronic lymphoproliferative disorder that rarely transforms into secondary malignancies; however, transformation into **acute myeloid leukemia (AML)** is not a hallmark of HCL and is not referred to as Richter's syndrome. - HCL is characterized by pancytopenia and distinctive hairy-looking lymphocytes, distinct from the progression pattern seen in Richter's. *Blast crisis in CML* - **Blast crisis** is the terminal phase of chronic myeloid leukemia (CML), where the number of myeloid blasts in the blood or bone marrow increases to >20%. - This is a progression of CML, a myeloproliferative neoplasm, and is distinct from the lymphoid transformation described by Richter's syndrome. *Splenic infiltration in NHL* - While non-Hodgkin lymphoma (NHL) can involve the spleen, **splenic infiltration** itself does not describe a malignant transformation syndrome like Richter's. - Richter's syndrome describes a transformation *from* CLL *to* a more aggressive lymphoma, not just a site of involvement for NHL.

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 type(s) of hemophilia is/are X-linked?

Both A & B. ***Both A & B*** - Both **Hemophilia A** and **Hemophilia B** are **X-linked recessive** disorders [1][2] caused by deficiency of specific clotting factors (Factor VIII for A and Factor IX for B). - They are inherited through **carrier females**, affecting predominantly males, showcasing their X-linked transmission [1]. *Hemophilia A* - It is indeed an **X-linked recessive** disorder [2] but does not encompass all types of hemophilia. - It results from a deficiency in **Factor VIII** [2], leading to bleeding disorders, yet is just one form of hemophilia. *Hemophilia C* - This form is **autosomal recessive** and not linked to the X chromosome, primarily affecting both genders equally. - It involves a deficiency of **Factor XI**, distinguishing it from the X-linked nature of A and B. *Hemophilia B* - Like Hemophilia A, it is X-linked but by itself does not account for all hemophilias. - It results from a deficiency in **Factor IX**, yet the question about X-linkage applies to both A and B together. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, p. 151. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 670-671.

Q: With regards to hereditary spherocytosis, which of the following is false?

Aplastic crises are common. ***Aplastic crises are common*** - Aplastic crises occur in cases of **hereditary spherocytosis** due to parvovirus B19 infections, leading to **acute cessation of erythropoiesis** [1][3]. - They are characterized by a **sudden drop in hemoglobin levels**, which is not a common feature of hereditary spherocytosis itself, hence the misconception [1]. *Usually has autosomal dominant inheritance* - Hereditary spherocytosis is primarily inherited in an **autosomal dominant pattern**, where one copy of the mutated gene is sufficient to cause the disease. - However, it can also present in an **autosomal recessive** form, making this statement misleading. *Red blood cells are destroyed in the spleen* - This statement is actually **true**; hereditary spherocytosis leads to the **destruction of abnormally shaped red blood cells** in the spleen due to their rigid membrane structure [2][3]. - The condition is characterized by **hemolytic anemia** resulting from splenic sequestration [3]. *Caused by mutations in genes for proteins such as spectrin, ankrin or band 3* - This is a **correct statement**, as hereditary spherocytosis results from mutations in **membrane proteins** that result in loss of elasticity and stability of the red blood cell membrane [2]. - The mutations commonly involve **spectrin, ankyrin, and band 3 proteins**, leading to the pathophysiology seen in this condition [2]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 641-642. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 640-641. [3] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 597-598.

Q: What is the most important diagnostic feature for beta thalassemia trait?

Increased HbA2. ***Raised HbA2*** - In beta thalassemia trait, the most significant diagnostic feature is an **increased level of HbA2** (>3.5%), which helps differentiate it from other types of anemias [1]. - This is due to a compensatory mechanism as the body attempts to produce more **alpha globin chains** in response to decreased beta globin production. *Reduced MCV* - While **reduced mean corpuscular volume (MCV)** can indicate microcytic anemia, it is not specific enough for beta thalassemia trait as it can appear in other conditions. - MCV can vary in individuals, making it less reliable as a **diagnostic feature** compared to HbA2 levels. *Raised HbF* - An increase in **hemoglobin F (HbF)** is more characteristic of beta thalassemia major rather than the trait; levels in the trait do not typically rise significantly. - This feature can also be elevated in other conditions, thus not serving as a definitive marker for the trait. *Reduced MCH* - A **decreased mean corpuscular hemoglobin (MCH)** is indicative of microcytic anemia but lacks specificity for beta thalassemia trait alone. - Similar to MCV, it can occur in various types of anemia and does not pinpoint the diagnosis effectively. **References:** [1] 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: Which of the following is a feature not typically associated with Hereditary Spherocytosis?

Direct Coombs Positive. ***Direct Coomb's Positive*** - In Hereditary Spherocytosis, the **Coomb's test** is typically **negative**, indicating that hemolysis is not due to autoimmune factors. - Presence of **spherocytes** on the blood smear and increased fragility are hallmark findings, not antibodies against red cells [1]. *Splenomegaly* - **Splenomegaly** is common in Hereditary Spherocytosis as the spleen actively removes abnormal spherocytes from circulation [1]. - It can lead to **hypersplenism**, with resultant anemia and thrombocytopenia. *Increased Osmotic Fragility* - Increased osmotic fragility is a key feature of Hereditary Spherocytosis, as red blood cells are less able to withstand hypotonic solutions [1]. - This results from a defect in the red cell membrane, causing spherocyte shape and fragility. *Gall stones* - Patients may develop **gallstones** due to increased bilirubin from the breakdown of spherocytes, leading to **bilirubin stones** [1]. - Gallstones are a common complication due to chronic hemolysis. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 597-598.

Q: Which of the following is a quantitative defect in globin synthesis?

Thalassemia. ***Thalassemia*** - **Thalassemia** is characterized by a **quantitative defect** in globin chain synthesis, leading to reduced hemoglobin production [1][2][5]. - It results in **microcytic anemia** due to ineffective erythropoiesis and imbalanced globin chain production [2]. *Diamond-Blackfan syndrome* - This condition is a type of **macrocytic anemia** due to failure of red blood cell production, rather than a globin synthesis defect. - It generally presents with **normocytic or macrocytic** anemia and is associated with **erythroblastopenia**. *Sickle cell hemoglobinopathy* - Sickle cell disease involves a **qualitative defect** in hemoglobin (Hb S) rather than a quantitative one [3][4][5]. - Symptoms include pain episodes, **vaso-occlusive crises**, and organ damage due to sickling of red blood cells [3][4]. *G6PD deficiency* - G6PD deficiency is an **enzyme deficiency** leading to hemolytic anemia under oxidative stress, not a defect in globin synthesis [4][5]. - Characterized by **episodic hemolytic anemia**, it primarily affects red blood cell stability rather than hemoglobin production [4]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 587-588. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 646-647. [3] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 598-599. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 652-654. [5] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, p. 638.

Q: Which of the following does not cause intravascular hemolysis?

Hereditary spherocytosis. ***Hereditary spherocytosis*** - It primarily causes **extravascular hemolysis** due to spleen sequestration of **abnormal erythrocytes** [2]. - Not typically associated with **intravascular hemolysis**, making it the correct choice here. *Mismatched blood transfusion* - Causes acute **intravascular hemolysis** due to **antibody-mediated destruction** of foreign red blood cells [1]. - Results in **hemoglobinuria**, high bilirubin levels, and potential **renal failure**. *Paroxysmal cold hemoglobinuria* - Induces **intravascular hemolysis** triggered by cold temperatures and **anti-P antibodies** [3]. - Characterized by **acute hemoglobinuria** upon rewarming, complicating the clinical picture [3]. *Thermal burns* - Can lead to **intravascular hemolysis** due to damage to red blood cells from extreme heat. - Associated with **massive tissue injury** and resultant hemolytic reactions in the bloodstream.

Question 1

TEL-AML1 fusion is associated with?

Accepted Answer

ALL

Answer

CLL

Answer

CML

Answer

AML

Question 2

Left shift in Arneth's count is seen in?

Accepted Answer

Septicemia

Answer

Megaloblastic anemia

Answer

Liver disease

Answer

TB

Question 3

Richter's syndrome refers to which of the following malignant transformations?

Accepted Answer

CLL evolving into aggressive lymphoma

Answer

Hairy cell leukemia evolving to AML

Answer

Blast crisis in CML

Answer

Splenic infiltration in NHL

Question 4

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 5

Which type(s) of hemophilia is/are X-linked?

Accepted Answer

Both A & B

Answer

Hemophilia A

Answer

Hemophilia B

Answer

Hemophilia C

Question 6

With regards to hereditary spherocytosis, which of the following is false?

Accepted Answer

Aplastic crises are common

Answer

Caused by mutations in genes for proteins such as spectrin, ankyrin or band 3

Answer

Usually has autosomal dominant inheritance

Answer

Red blood cells are destroyed in the spleen

Question 7

What is the most important diagnostic feature for beta thalassemia trait?

Accepted Answer

Increased HbA2

Answer

Increased HbF

Answer

Decreased MCH

Answer

Decreased MCV

Question 8

Which of the following is a feature not typically associated with Hereditary Spherocytosis?

Accepted Answer

Direct Coombs Positive

Answer

Gall stones

Answer

Splenomegaly

Answer

Increased Osmotic Fragility

Question 9

Which of the following is a quantitative defect in globin synthesis?

Accepted Answer

Thalassemia

Answer

Sickle cell hemoglobinopathy

Answer

G6PD deficiency

Answer

Diamond-Blackfan syndrome

Question 10

Which of the following does not cause intravascular hemolysis?

Accepted Answer

Hereditary spherocytosis

Answer

Mismatched blood transfusion

Answer

Paroxysmal cold hemoglobinuria

Answer

Thermal burns

Hematopathology — MCQs

Hematopathology — MCQs

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