Hematopathology Practice Questions

Q: Test used for factor VIII deficiency identification is:

APTT. ***APTT*** - Activated Partial Thromboplastin Time (APTT) is specifically used to identify deficiencies in the **intrinsic pathway**, including **factor VIII deficiency** [1]. - A prolonged APTT indicates a defect in this pathway, which is essential for diagnosing **hemophilia A**, linked to factor VIII [1][2]. *FDP* - Fibrin degradation products (FDP) are used to assess **fibrinolytic activity**, not specific for factor VIII deficiency. - While elevated in various conditions, they do not provide specific information about the intrinsic pathway or factor levels. *D dimer* - D-dimer is primarily used to rule out **thrombotic disorders** such as **deep vein thrombosis** or **pulmonary embolism**. - It does not assess **coagulation factors** or deficiencies like factor VIII, thus not appropriate for this diagnosis. *PT* - Prothrombin Time (PT) evaluates the **extrinsic pathway** of coagulation, primarily involving **factors I, II, V, VII, and X** [1]. - Factor VIII deficiency will not typically affect the PT, making it unsuitable for identifying issues related to the intrinsic pathway [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Hemodynamic Disorders, Thromboembolic Disease, and Shock, pp. 128-130. [2] 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 is not considered a poor prognostic factor for Hodgkin's lymphoma?

Young age. ***Young age*** - Young age is generally associated with a **better prognosis** in Hodgkin's lymphoma, as this population often responds well to treatment [1][3]. - Patients are likely to have **fewer comorbid conditions**, which contributes to improved survival rates. *Extranodal metastasis* - Extranodal involvement is a **poor prognostic factor** indicating more advanced disease and increased treatment resistance [1]. - It is commonly associated with a **higher stage of disease**, leading to less favorable outcomes. *Lymphocyte depletion* - Lymphocyte depletion subtype of Hodgkin's lymphoma is linked to a **worse prognosis** due to its aggressive nature and poor response to therapies [2]. - It presents with fewer lymphocytes, indicating a more challenging disease course and **lower survival rates** [2]. *Involvement of stomach* - Gastric involvement in Hodgkin's lymphoma is also considered a **poor prognostic factor**, suggesting advanced disease. - It often correlates with **systemic symptoms** and may incur a higher risk of complications and treatment failures. **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. 616-618. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 559-560. [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. 618.

Q: Amyloidosis is associated with the following conditions, except:

Thymoma. ***Thymoma*** - Thymoma is not commonly associated with **systemic deposition of amyloid**. It mainly presents with symptoms related to thymic tumor effects. - This condition primarily arises in **myasthenia gravis** but does not lead to amyloidosis. *Multiple myeloma* - This condition is frequently associated with **AL amyloidosis** due to light chain production [1][2]. - Patients often present with **renal failure** and **proteinuria** along with associated symptoms. *Hypernephroma* - Also known as renal cell carcinoma, it can lead to amyloidosis due to **paraneoplastic syndromes**. - The renal effects are often related to the tumor burden rather than direct amyloid deposition. *Lymphoma* - Similar to multiple myeloma, lymphoma can cause **AL amyloidosis** through increased production of light chains. - Patients may experience systemic symptoms like **weight loss** and **night sweats**, along with evidence of amyloid involvement. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of the Immune System, pp. 266-267. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 135-136.

Q: Fanconi's anemia is a:

Genetic anemia. ***Genetic anemia*** - Fanconi's anemia is a rare, **inherited disorder** characterized by bone marrow failure, physical abnormalities, and an increased risk of cancer [1]. - It results from mutations in genes involved in **DNA repair**, leading to chromosomal instability and defective hematopoietic stem cell function. *Anemia due to iron deficiency* - **Iron deficiency anemia** occurs when there is insufficient iron to produce adequate hemoglobin, often due to poor diet, malabsorption, or blood loss. - It is not associated with the genetic mutations or bone marrow failure seen in Fanconi's anemia. *Anemia due to autoimmune response* - **Autoimmune hemolytic anemia** involves the immune system mistakenly attacking and destroying red blood cells, which is a different mechanism from Fanconi's anemia. - Conditions like **Lupus** or **autoimmune lymphoproliferative syndrome** are examples of diseases causing autoimmune anemias. *Anemia due to red blood cell destruction* - Anemia due to red blood cell destruction, or **hemolytic anemia**, can be caused by various factors including genetic defects (e.g., sickle cell anemia), infections, or certain medications [2]. - While Fanconi's anemia can eventually lead to pancytopenia and affect red blood cells, its primary cause is **bone marrow failure** due to genetic defects in DNA repair, rather than direct hemolysis. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 595-596. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, p. 638.

Q: Hypercoagulability due to a defective factor V gene is called:

Leiden mutation. ***Leiden mutation*** - The **Leiden mutation** refers specifically to a mutation in the **factor V gene** that leads to a hypercoagulable state, particularly increasing the risk of venous thromboembolism [1]. - It causes resistance to **activated protein C**, which normally regulates blood clotting, thus contributing to sustained clot formation [1]. *Lisbon mutation* - The **Lisbon mutation** is not a recognized term in the context of coagulation disorders or factor V. - There is no clinical relevance tied to clotting abnormalities related specifically to this mutation in the scientific literature. *Antiphospholipid syndrome* - Antiphospholipid syndrome is an autoimmune disorder characterized by **thrombosis** and pregnancy complications, but not specifically linked to the **factor V gene**. - It involves antibodies against phospholipids, which is unrelated to the genetic mutations affecting factor V. *Inducible thrombocytopenia syndrome* - This syndrome primarily involves **low platelet counts** induced by certain medications or conditions, not a defect in **factor V**. - It does not relate to hypercoagulability but rather to bleeding risks due to the **decreased platelet count**. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Hemodynamic Disorders, Thromboembolic Disease, and Shock, pp. 133-134.

Q: What is the most common beta thalassemia gene mutation worldwide?

IVS-1-110 (G→A) mutation. ***IVS-1-110 (G→A) mutation*** - This mutation at **intron 1 position 110** (Guanine to Adenine substitution) is considered the most common single gene defect causing **beta thalassemia** worldwide, particularly prevalent in the **Mediterranean region** (Greece, Cyprus, Turkey). [1] - It leads to an alteration in the **splicing of mRNA**, resulting in reduced or absent production of the **beta-globin chain**. [1] - **Note:** The most common mutation varies by geographic population; in the **Indian subcontinent**, IVS-1-5 (G→C) is most prevalent. *IVS-1-1 (G→T) mutation* - This mutation, involving a **Guanine to Thymine** substitution at **intron 1 position 1**, is a common cause of **beta thalassemia** in the **Indian subcontinent** and Mediterranean regions. [1] - It affects RNA splicing and is the second most common mutation in India after IVS-1-5 (G→C). *Codon 39 (C→T) mutation* - This mutation, a **nonsense mutation** where Cytosine is replaced by Thymine at **codon 39**, is prevalent in the **Mediterranean and Middle East** populations. [2] - It results in a **premature stop codon**, leading to a complete absence of functional beta-globin chain (β⁰ thalassemia). [2] *Large gene deletion* - While large deletions can occur and cause **beta thalassemia**, particularly certain forms of **β⁰ thalassemia**, they are generally less frequent compared to point mutations. [1] - Deletions more commonly cause **alpha thalassemia** rather than beta thalassemia, although some deletions do affect the beta-globin gene cluster. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 646-647. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 147-148.

Q: A 15-year-old girl presented with weakness for 2 months, accompanied by pallor and icterus on examination, with a palpable spleen. Laboratory examination findings include reticulocytosis, increased mean corpuscular hemoglobin concentration (MCHC), and a positive osmotic fragility test. The Coombs test is negative. What is the diagnosis?

Hereditary spherocytosis. ***Hereditary spherocytosis*** - The combination of **reticulocytosis**, **macrocytic anemia (increased MCV)**, and **positive osmotic fragility test** indicates spherocytes, which are typical in hereditary spherocytosis [1]. - The **negative Coombs test** further supports this diagnosis by ruling out autoimmune hemolytic anemia (AIHA) [2]. *AIHA* - AIHA is characterized by a **positive Coombs test** due to the presence of autoantibodies, which is not the case here [2]. - It typically presents with **normocytic anemia** rather than macrocytic changes like in hereditary spherocytosis. *G-6-PD deficiency anemia* - G-6-PD deficiency usually presents with **episodic hemolysis** and often shows **bite cells**, but the osmotic fragility would not be positive in this scenario. - Symptoms often occur after certain triggers (e.g., infections, drugs), differing from the chronic symptoms noted in this patient [3]. *Iron deficiency anemia* - Iron deficiency anemia typically shows **microcytic hypochromic cells**, with a **low MCV** and **MCHC**, which is inconsistent with the findings of increased MCV and reticulocytosis here. - It doesn't cause a positive osmotic fragility test. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 597-598. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 602-603. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 641-642. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 640-641.

Question 1

Myeloid sarcoma, which is a tumor mass consisting of myeloid blasts occurring at anatomic sites other than the bone marrow, is often characterized by chromosome aberrations. Which of the following is NOT typically associated with myeloid sarcoma?

Accepted Answer

t (15;17)

Answer

Monosomy 7

Answer

Trisomy 8

Answer

inv (16)

Question 2

Test used for factor VIII deficiency identification is:

Accepted Answer

APTT

Answer

PT

Answer

D dimer

Answer

FDP

Question 3

Which of the following is not considered a poor prognostic factor for Hodgkin's lymphoma?

Accepted Answer

Young age

Answer

Lymphocyte depletion

Answer

Extranodal metastasis

Answer

Involvement of stomach

Question 4

Amyloidosis is associated with the following conditions, except:

Accepted Answer

Thymoma

Answer

Multiple myeloma

Answer

Lymphoma

Answer

Hypernephroma

Question 5

Which of the following statements on lymphoma is not true?

Accepted Answer

In general, follicular (nodular) NHL has worse prognosis compared to diffuse NHL.

Answer

HD more often tends to remain localized to a single group of lymph nodes and spreads by contiguity.

Answer

Several types of non-Hodgkin's lymphoma (NHL) may have a leukemic phase.

Answer

A single classification system for Hodgkin's disease (HD) is almost universally accepted.

Question 6

Fanconi's anemia is a:

Accepted Answer

Genetic anemia

Answer

Anemia due to iron deficiency

Answer

Anemia due to autoimmune response

Answer

Anemia due to red blood cell destruction

Question 7

Which type of leukemia is associated with the Philadelphia chromosome?

Accepted Answer

Chronic Myeloid Leukemia (CML)

Answer

Acute Myeloid Leukemia (AML)

Answer

Acute Lymphoblastic Leukemia (ALL)

Answer

Chronic Lymphocytic Leukemia (CLL)

Question 8

Hypercoagulability due to a defective factor V gene is called:

Accepted Answer

Leiden mutation

Answer

Lisbon mutation

Answer

Antiphospholipid syndrome

Answer

Inducible thrombocytopenia syndrome

Question 9

What is the most common beta thalassemia gene mutation worldwide?

Accepted Answer

IVS-1-110 (G→A) mutation

Answer

Large gene deletion

Answer

IVS-1-1 (G→T) mutation

Answer

Codon 39 (C→T) mutation

Question 10

A 15-year-old girl presented with weakness for 2 months, accompanied by pallor and icterus on examination, with a palpable spleen. Laboratory examination findings include reticulocytosis, increased mean corpuscular hemoglobin concentration (MCHC), and a positive osmotic fragility test. The Coombs test is negative. What is the diagnosis?

Accepted Answer

Hereditary spherocytosis

Answer

Iron deficiency anemia

Answer

Autoimmune hemolytic anemia (AIHA)

Answer

G6PD deficiency anemia

Hematopathology — MCQs

Hematopathology — MCQs

On this page

Practice by Chapter

Want unlimited practice?