Hematopathology — MCQs
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Pernicious anemia is associated with which of the following pathologies?
A 53-year-old male presents with an enlarged supraclavicular lymph node. Examination reveals enlargement of the Waldeyer ring of oropharyngeal lymphoid tissue. There is no hepatosplenomegaly. Lymph node biopsy reveals replacement by a monomorphous population of large lymphoid cells with enlarged nuclei and prominent nucleoli. The CBC is normal except for mild anemia. Immunohistochemical staining and flow cytometry of the node reveals that most lymphoid cells are CD19+, CD10-, CD3-, CD15-, and TdT negative. What is the most likely diagnosis?
The nucleotide triplet CTC in the sixth position of the beta-globin chain in DNA forms the complementary nucleotide on mRNA that codes for glutamic acid. A point mutation on the beta-globin chain resulting in the nucleotide triplet CAC forms a complementary nucleotide on mRNA that codes for valine. In sickle cell anemia, what is the expected complementary nucleotide triplet on mRNA, read 5' to 3'?
Purpura fulminans is seen in?
What is the cause of alpha thalassemia?
What is the rarest variety of multiple myeloma?
Which one of the following lymphomas is associated with the translocation of the c-myc gene on chromosome 8?
The 'hair on end' appearance on peripheral blood smear is characteristic of which of the following conditions?
Sickle cell disease is due to which type of genetic mutation?
A young boy presented with dyspnea and was found to have a mediastinal mass. Which of the following conditions is known to produce mediastinal lymphadenopathy?
Hematopathology Indian Medical PG Practice Questions and MCQs
Question 1: Pernicious anemia is associated with which of the following pathologies?
- A. Gastric pathology (Correct Answer)
- B. Renal pathology
- C. Esophageal pathology
- D. Oral pathology
Explanation: **Explanation:** **Pernicious Anemia** is a specific form of megaloblastic anemia caused by an autoimmune destruction of the gastric mucosa [1]. The core pathology is **Autoimmune Metaplastic Atrophic Gastritis (Type A Gastritis)** [3]. 1. **Why Gastric Pathology is Correct:** The disease is characterized by the immune system attacking **gastric parietal cells** (found in the body and fundus of the stomach) and **Intrinsic Factor (IF)** [1], [3]. The loss of parietal cells leads to **achlorhydria** (lack of HCl) and a failure to secrete Intrinsic Factor [1]. Since IF is essential for the absorption of Vitamin B12 in the terminal ileum, its absence leads to Vitamin B12 deficiency, resulting in ineffective erythropoiesis and megaloblastic anemia [1]. 2. **Why Other Options are Incorrect:** * **Renal Pathology:** While B12 is excreted by the kidneys, renal failure does not cause pernicious anemia. * **Esophageal Pathology:** Though patients may have dysphagia (Plummer-Vinson is associated with Iron deficiency, not B12), the primary site of pathology is the stomach. * **Oral Pathology:** Patients often present with **Glossitis** (Beefy red tongue), but this is a *clinical manifestation* of the deficiency, not the underlying *pathological cause* of the disease [4]. **High-Yield Clinical Pearls for NEET-PG:** * **Antibodies:** Anti-parietal cell antibodies (more sensitive) and Anti-intrinsic factor antibodies (more specific) [1], [2]. * **Gastric Morphology:** Characterized by diffuse mucosal atrophy, loss of rugal folds, and **intestinal metaplasia** (replacement of gastric epithelium with goblet cells) [1]. * **Malignancy Risk:** Patients have a 3x increased risk of **Gastric Adenocarcinoma** and Gastric Carcinoid tumors [3]. * **Schilling Test:** Historically used to diagnose B12 malabsorption (now largely replaced by serology). **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 592-593. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 655-656. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, pp. 771-772. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, pp. 772-773.
Question 2: A 53-year-old male presents with an enlarged supraclavicular lymph node. Examination reveals enlargement of the Waldeyer ring of oropharyngeal lymphoid tissue. There is no hepatosplenomegaly. Lymph node biopsy reveals replacement by a monomorphous population of large lymphoid cells with enlarged nuclei and prominent nucleoli. The CBC is normal except for mild anemia. Immunohistochemical staining and flow cytometry of the node reveals that most lymphoid cells are CD19+, CD10-, CD3-, CD15-, and TdT negative. What is the most likely diagnosis?
- A. Chronic lymphadenitis
- B. Diffuse large B-cell lymphoma (Correct Answer)
- C. Hodgkin disease
- D. Lymphoblastic lymphoma
Explanation: ### **Explanation** **1. Why Diffuse Large B-cell Lymphoma (DLBCL) is Correct:** The clinical and pathological findings are classic for DLBCL, the most common type of Non-Hodgkin Lymphoma (NHL) [1]. * **Morphology:** The biopsy shows a "monomorphous population of large lymphoid cells" with prominent nucleoli, which is the hallmark of DLBCL [3]. * **Immunophenotype:** The cells are **CD19+** (confirming B-cell lineage) and **TdT negative** (ruling out immature/blastic cells). * **Clinical Presentation:** Involvement of the **Waldeyer ring** and extranodal sites is highly characteristic of DLBCL [3]. It typically presents as a rapidly enlarging symptomatic mass [3]. **2. Why Other Options are Incorrect:** * **Chronic Lymphadenitis:** This would show a pleomorphic (mixed) population of cells (lymphocytes, histiocytes, plasma cells) and preserved lymph node architecture, not a monomorphous large-cell infiltrate. * **Hodgkin Disease:** Characterized by **Reed-Sternberg (RS) cells** in a reactive background [5]. RS cells are typically **CD15+ and CD30+**, but **CD19 negative**. The presentation here lacks the characteristic "bimodal" age distribution or contiguous spread. * **Lymphoblastic Lymphoma:** These are immature cells (precursor T or B cells). They would be **TdT positive** (a marker of immaturity) and typically occur in children or adolescents, often presenting with a mediastinal mass (T-cell type) [4]. **3. NEET-PG High-Yield Pearls:** * **DLBCL** is the most common NHL in adults [2]. * **Waldeyer Ring Involvement:** If mentioned in a lymphoma case, think of DLBCL or Mantle Cell Lymphoma [3]. * **Immunophenotype:** Always check **TdT**. TdT(+) = Lymphoblastic; TdT(-) = Mature Lymphoma [4]. * **BCL-6** is the most common genetic alteration in DLBCL (30% of cases) [2]. * **Treatment:** The standard of care is the **R-CHOP** regimen (Rituximab, Cyclophosphamide, Doxorubicin, Vincristine, and Prednisone). **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 563-564. [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, p. 604. [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, pp. 604-605. [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. 606. [5] 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.
Question 3: The nucleotide triplet CTC in the sixth position of the beta-globin chain in DNA forms the complementary nucleotide on mRNA that codes for glutamic acid. A point mutation on the beta-globin chain resulting in the nucleotide triplet CAC forms a complementary nucleotide on mRNA that codes for valine. In sickle cell anemia, what is the expected complementary nucleotide triplet on mRNA, read 5' to 3'?
- A. GAG
- B. CTC
- C. GTG
- D. GUG (Correct Answer)
Explanation: The core concept in this question is the molecular pathology of **Sickle Cell Anemia (HbS)** and the process of **transcription**. 1. **Why GUG is correct:** In a normal beta-globin chain, the DNA triplet is **CTC**. During transcription, this acts as a template to form the mRNA codon **GAG**, which codes for **Glutamic acid**. [1] In Sickle Cell Anemia, a point mutation (missense mutation) occurs where Adenine replaces Thymine in the DNA (**CTC → CAC**). When the mutant DNA triplet **CAC** is transcribed into mRNA, the complementary base pairing (C-G, A-U) results in the codon **GUG**. This codon translates to **Valine** at the 6th position of the beta-globin chain. [1], [2] 2. **Analysis of Incorrect Options:** * **A. GAG:** This is the normal mRNA codon for Glutamic acid. Its presence indicates a healthy beta-globin chain. [1] * **B. CTC:** This is the original DNA triplet, not the mRNA codon. mRNA contains Uracil (U) instead of Thymine (T). * **C. GTG:** This represents the DNA sequence of the coding strand (non-template) in the mutation. mRNA cannot contain Thymine (T). **High-Yield Clinical Pearls for NEET-PG:** * **Mutation Type:** Non-conservative missense mutation (Point mutation). [2] * **Substitution:** Glutamic acid (polar/hydrophilic) is replaced by Valine (non-polar/hydrophobic). [1] * **Pathophysiology:** The hydrophobic valine creates a "sticky patch," leading to hemoglobin polymerization under deoxygenated conditions (T-state), causing the characteristic "sickling." [1], [2] * **Electrophoresis:** On alkaline electrophoresis, HbS moves slower than HbA toward the anode because Valine is neutral, whereas Glutamic acid is negatively charged. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 598-599. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 652-654.
Question 4: Purpura fulminans is seen in?
- A. Protein C deficiency (Correct Answer)
- B. Protein S deficiency
- C. AT III deficiency
- D. Factor 5 Leiden mutation
Explanation: **Explanation:** **Purpura Fulminans (PF)** is a life-threatening syndrome characterized by sudden, progressive cutaneous hemorrhage and necrosis due to microvascular thrombosis and disseminated intravascular coagulation (DIC). [1] 1. **Why Protein C deficiency is correct:** Protein C is a vitamin K-dependent natural anticoagulant that inactivates Factors Va and VIIIa. In **neonatal homozygous Protein C deficiency**, there is a total absence of this "brake" on the coagulation cascade. This leads to massive, widespread microvascular thrombosis shortly after birth, manifesting as Purpura Fulminans. It can also occur in adults during the initiation of Warfarin therapy (Warfarin-induced skin necrosis) because Protein C has a shorter half-life than other clotting factors, creating a transient hypercoagulable state. 2. **Why the other options are incorrect:** * **Protein S deficiency:** While Protein S is a cofactor for Protein C and its deficiency causes a hypercoagulable state (venous thromboembolism), it is much less commonly associated with the classic presentation of neonatal Purpura Fulminans compared to Protein C. * **Antithrombin III (AT III) deficiency:** This typically presents as heparin resistance and venous thromboembolism (DVT/PE) rather than acute cutaneous necrosis or Purpura Fulminans. * **Factor V Leiden:** This is the most common inherited cause of thrombophilia. It involves a mutation that makes Factor V resistant to inactivation by Protein C. While it increases the risk of DVT, it does not typically cause Purpura Fulminans. **High-Yield Clinical Pearls for NEET-PG:** * **Triad of PF:** Tissue necrosis, DIC, and small vessel thrombosis. [1] * **Warfarin-induced skin necrosis:** Always remember this is due to a transient Protein C deficiency. * **Management:** Acute PF is treated with Protein C concentrate or Fresh Frozen Plasma (FFP). * **Differential:** Purpura Fulminans is also a hallmark of **Meningococcemia** (due to acquired Protein C consumption). [1] **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 672-673.
Question 5: What is the cause of alpha thalassemia?
- A. Deletion of alpha genes (Correct Answer)
- B. Deletion of beta genes
- C. Excess of alpha genes
- D. Single amino acid substitution in alpha chain
Explanation: **Explanation:** **1. Why Option A is Correct:** Alpha thalassemia is primarily caused by the **deletion** of one or more of the four alpha-globin genes located on **chromosome 16** [1]. Unlike beta thalassemia, which is usually caused by point mutations, alpha thalassemia results from unequal crossing over during meiosis, leading to the physical loss of gene loci. The severity of the disease depends on the number of genes deleted: * **1 gene deleted:** Silent carrier [1]. * **2 genes deleted:** Alpha-thalassemia trait (mild microcytic anemia) [1]. * **3 genes deleted:** Hemoglobin H (HbH) disease (excess beta chains form tetramers, $\beta_4$) [1], [2]. * **4 genes deleted:** Hydrops Fetalis (Hb Barts, $\gamma_4$; incompatible with life) [1]. **2. Why Other Options are Incorrect:** * **Option B:** Deletion of beta genes is rare; Beta thalassemia is typically caused by **point mutations** in the promoter or splicing sites of the beta-globin gene on chromosome 11 [1]. * **Option C:** Excess alpha genes do not cause thalassemia; however, co-inheritance of extra alpha genes can worsen the clinical severity of beta thalassemia by increasing the globin chain imbalance [3]. * **Option D:** Single amino acid substitutions characterize **Hemoglobinopathies** (e.g., Sickle Cell Anemia, where valine replaces glutamic acid), not the quantitative reduction seen in thalassemia. **3. NEET-PG High-Yield Pearls:** * **Genetics:** Alpha genes are on Chromosome 16; Beta genes are on Chromosome 11. * **Hb Barts:** High affinity for $O_2$, does not deliver it to tissues, leading to intrauterine hypoxia. * **Diagnosis:** Hb electrophoresis is normal in alpha-thal trait; diagnosis often requires genetic testing (PCR) [2]. * **Blood Smear:** Look for "Golf ball cells" (HbH inclusions) when stained with Brilliant Cresyl Blue [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. 646-650. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 600-601. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 647-648.
Question 6: What is the rarest variety of multiple myeloma?
- A. IgM
- B. IgD
- C. IgE (Correct Answer)
- D. IgG
Explanation: **Explanation:** Multiple myeloma is a plasma cell neoplasm characterized by the monoclonal proliferation of plasma cells, which typically secrete a specific immunoglobulin (M-protein). The classification of myeloma is based on the type of heavy chain produced [1]. **1. Why IgE is the Correct Answer:** **IgE myeloma** is the rarest form of the disease, accounting for **less than 0.1%** of all multiple myeloma cases. Clinically, it often presents aggressively, frequently manifesting as plasma cell leukemia, and is associated with a poor prognosis. **2. Analysis of Incorrect Options:** * **IgG (Option D):** This is the **most common** variety, accounting for approximately 50–60% of cases [1], [2]. * **IgA:** This is the second most common variety (approx. 20–25%) [1], [2]. * **IgD (Option B):** This is rare (approx. 1–2%) but significantly more common than IgE. It is often associated with Bence-Jones proteinuria and renal failure [1], [2]. * **IgM (Option A):** Extremely rare in classic multiple myeloma [1]. Monoclonal IgM is typically associated with **Waldenström Macroglobulinemia**, not multiple myeloma [2]. **3. High-Yield Clinical Pearls for NEET-PG:** * **Frequency Order:** IgG > IgA > Light chain only (Bence-Jones) > IgD > IgE [1], [2]. * **Non-secretory Myeloma:** Occurs in ~1% of patients where no M-protein is detectable in serum or urine [1]. * **Diagnosis:** Look for the **"CRAB"** features (Calcium elevation, Renal insufficiency, Anemia, Bone lesions). * **Investigation of Choice:** Bone marrow aspiration/biopsy showing >10% clonal plasma cells [3]. * **Serum Protein Electrophoresis (SPEP):** Shows a sharp "M-spike" (usually in the gamma globulin region) [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] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 616-617. [3] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 617-618.
Question 7: Which one of the following lymphomas is associated with the translocation of the c-myc gene on chromosome 8?
- A. Burkitt's lymphoma (Correct Answer)
- B. Mantle cell lymphoma
- C. Follicular lymphoma
- D. Anaplastic large cell lymphoma
Explanation: **Explanation:** **Burkitt’s Lymphoma (Correct Answer):** Burkitt’s lymphoma is a highly aggressive B-cell non-Hodgkin lymphoma characterized by the translocation of the **c-myc proto-oncogene** located on **chromosome 8** [1]. The most common translocation is **t(8;14)**, where c-myc is moved adjacent to the Immunoglobulin Heavy chain (IgH) locus [1]. This leads to the constitutive overexpression of the MYC protein, a potent transcription factor that drives rapid cell proliferation and metabolism [1]. **Analysis of Incorrect Options:** * **Mantle Cell Lymphoma:** Associated with **t(11;14)**, involving the **CCND1 (Cyclin D1)** gene. This leads to overexpression of Cyclin D1, which promotes the G1 to S phase transition in the cell cycle. * **High-Yield Clinical Pearls for NEET-PG:** * **Follicular Lymphoma:** Characterized by **t(14;18)**, involving the **BCL-2** gene [2]. This results in the overexpression of BCL-2, an anti-apoptotic protein that prevents programmed cell death [2], [3]. * **Anaplastic Large Cell Lymphoma (ALCL):** Frequently associated with **t(2;5)**, which creates the **ALK-NPM** fusion protein, leading to constitutive tyrosine kinase activity. **High-Yield Clinical Pearls for NEET-PG:** * **Morphology:** Burkitt’s lymphoma classically shows a **"Starary-sky appearance"** on histology (tingible body macrophages amidst a sea of neoplastic B-cells). * **Variants:** Endemic (African, associated with EBV, involves the jaw) and Sporadic (involves the ileocecum). * **Immunophenotype:** CD19+, CD20+, CD10+, and BCL-6+; notably **BCL-2 negative**. * **Proliferation Index:** Ki-67 index is typically near **100%**. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Neoplasia, pp. 324-325. [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, pp. 602-604.
Question 8: The 'hair on end' appearance on peripheral blood smear is characteristic of which of the following conditions?
- A. Thalassemia (Correct Answer)
- B. Scurvy
- C. Rickets
- D. Sickle cell disease
Explanation: ### Explanation **Correct Option: A. Thalassemia** The **'hair-on-end'** (or crew-cut) appearance is a classic radiological sign seen on a skull X-ray, rather than a peripheral blood smear (note: the question phrasing often tests your ability to link the sign to the pathology). This appearance is caused by **compensatory extramedullary hematopoiesis** and marked erythroid hyperplasia within the bone marrow. [1] In severe anemias like **Thalassemia Major**, the body attempts to compensate for chronic hemolysis by expanding the marrow space [2]. This thins the outer table of the skull and causes the trabeculae to orient themselves perpendicularly to the inner table, creating the characteristic "sunburst" or "hair-on-end" look [1]. **Analysis of Incorrect Options:** * **B. Scurvy:** Vitamin C deficiency leads to defective collagen synthesis. Radiological findings include the Wimberger sign, Frankel line, and Trummerfeld zone, but not marrow expansion. * **C. Rickets:** Caused by Vitamin D deficiency, it presents with cupping, splaying, and fraying of the metaphyses, and the "rachitic rosary" at the costochondral junctions. * **D. Sickle Cell Disease:** While Sickle Cell Disease *can* occasionally show a hair-on-end appearance due to chronic hemolysis, it is much more classically associated with **Thalassemia** [1]. Sickle cell is more frequently linked to "H-shaped" vertebrae (codfish vertebrae) and hand-foot syndrome (dactylitis) [3]. **High-Yield Clinical Pearls for NEET-PG:** * **Target Cells (Codocytes):** The hallmark of Thalassemia on a peripheral blood smear. * **Skull X-ray Triad for Thalassemia:** Hair-on-end appearance, widening of the diploic space, and absence of pneumatization of the maxillary sinuses (leading to **Chipmunk facies**) [1]. * **Iron Overload:** The most common cause of death in Thalassemia Major patients (secondary hemochromatosis) [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. 648-649. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, p. 648. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 645-646.
Question 9: Sickle cell disease is due to which type of genetic mutation?
- A. Point mutation (Correct Answer)
- B. Frameshift mutation
- C. Nucleotide receptor blockage
- D. Non-sequence mutation
Explanation: **Explanation:** **1. Why Point Mutation is Correct:** Sickle cell disease (SCD) is a classic example of a **missense point mutation** [3][4]. It involves a single nucleotide substitution in the **6th codon** of the **$\beta$-globin gene** on chromosome 11. Specifically, adenine is replaced by thymine (**GAG $\rightarrow$ GTG**). This change results in the substitution of the amino acid **Glutamic acid** (polar/hydrophilic) with **Valine** (non-polar/hydrophobic) [1]. Under deoxygenated conditions, this hydrophobic patch causes hemoglobin molecules (HbS) to polymerize, leading to the characteristic "sickling" of red blood cells [2]. **2. Why Other Options are Incorrect:** * **Frameshift mutation:** This involves the insertion or deletion of nucleotides (not in multiples of three), which shifts the entire reading frame. Examples include certain types of $\beta$-thalassemia or Tay-Sachs disease, but not SCD. * **Nucleotide receptor blockage:** This is not a standard genetic term for mutations. Receptors are proteins; mutations affect the genetic code that produces them, rather than "blocking" the nucleotides themselves. * **Non-sequence mutation:** This is a distractor term. Genetic diseases are fundamentally caused by changes in the DNA sequence (mutations) or epigenetic modifications. **3. High-Yield Clinical Pearls for NEET-PG:** * **Inheritance:** Autosomal Recessive [2]. * **Hb Electrophoresis:** HbS migrates **slowest** toward the anode (compared to HbA and HbC) because the loss of glutamic acid makes the molecule less negatively charged [5]. * **Protective Effect:** Heterozygotes (Sickle cell trait) have a selective advantage against *Plasmodium falciparum* malaria. * **Complications:** Vaso-occlusive crises, Autosplenectomy (Howell-Jolly bodies), and Acute Chest Syndrome [2]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 598-599. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 652-654. [3] 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. 58-59. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Cellular Responses to Stress and Toxic Insults: Adaptation, Injury, and Death, pp. 50-51. [5] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 643-644.
Question 10: A young boy presented with dyspnea and was found to have a mediastinal mass. Which of the following conditions is known to produce mediastinal lymphadenopathy?
- A. Diffuse large B-cell lymphoma
- B. B-cell rich T-cell lymphoma
- C. Mediastinal rich B-cell lymphoma
- D. T-cell lymphoblastic leukemia/lymphoma (Correct Answer)
Explanation: **Explanation:** **T-cell lymphoblastic leukemia/lymphoma (T-ALL/LBL)** is the correct answer because it characteristically presents in **adolescent males** as a rapidly growing **anterior mediastinal mass**. This occurs because the thymus is the site of T-cell maturation; neoplastic transformation of immature T-cells (lymphoblasts) leads to thymic enlargement, presenting clinically with dyspnea, superior vena cava syndrome, or pleural effusions. [1] **Analysis of Options:** * **Option A (DLBCL):** While DLBCL is the most common non-Hodgkin lymphoma, it typically presents as a rapidly enlarging nodal or extranodal mass (often cervical or abdominal) in older adults, rather than a primary mediastinal mass in a young boy. * **Option B (T-cell rich B-cell lymphoma):** This is a morphological variant of DLBCL. It usually presents with generalized lymphadenopathy and hepatosplenomegaly in middle-aged patients. * **Option C (Mediastinal large B-cell lymphoma):** Though this occurs in the mediastinum, it typically affects **young adult females** (20s–30s) rather than young boys and arises from medullary B-cells, not T-cell precursors. **High-Yield Clinical Pearls for NEET-PG:** * **Immunophenotype:** T-ALL/LBL cells are typically **TdT positive** (a marker of immature lymphoblasts) and express CD1a, CD2, CD3, CD5, and CD7. * **Genetics:** Often associated with mutations in the **NOTCH1** gene. * **Morphology:** On blood film/biopsy, look for "starry sky" appearance (due to high mitotic index) and lymphoblasts with convoluted nuclei. * **Differentiating T-ALL vs. T-LBL:** If the bone marrow involvement is <25%, it is termed lymphoma; if >25%, it is leukemia. [1] **Note on other mediastinal masses:** Other tumors like thymomas often present with dyspnea due to local bulk but are distinct from lymphoblastic lymphomas. [2] **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 560-561. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 572-574.
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