UPSC-CMS 2024 — Pathology
5 Previous Year Questions with Answers & Explanations
Which of the following are correct regarding Li-Fraumeni syndrome? 1. It has autosomal dominant inheritance and is associated with P53 gene. 2. It has autosomal recessive inheritance and is associated with P53 gene. 3. It is associated with an increased risk of sarcomas and leukaemia. 4. It is associated with an increased risk of brain tumours and osteosarcomas. Select the answer using the code given below.
Which of the following genetic syndromes are associated with brain tumours? 1. Neurofibromatosis type 1 2. Neurofibromatosis type 2 3. Tuberous sclerosis 4. Wiskott-Aldrich syndrome Select the answer using the code given below.
Which of the following are metabolic causes of splenic enlargement?
The most common type of brain tumour associated with neurofibromatosis type 1 is
Which of the following are correct regarding pathology of stress urinary incontinence? 1. Hypermobility of urethra 2. Descent of bladder neck and proximal urethra below pelvic diaphragm 3. Lowered urethral pressure 4. Increased detrusor activity
UPSC-CMS 2024 - Pathology UPSC-CMS Practice Questions and MCQs
Question 1: Which of the following are correct regarding Li-Fraumeni syndrome? 1. It has autosomal dominant inheritance and is associated with P53 gene. 2. It has autosomal recessive inheritance and is associated with P53 gene. 3. It is associated with an increased risk of sarcomas and leukaemia. 4. It is associated with an increased risk of brain tumours and osteosarcomas. Select the answer using the code given below.
- A. 1 and 4 only
- B. 1 and 3 only
- C. 1 only
- D. 1, 3 and 4 (Correct Answer)
Explanation: ***1, 3 and 4*** - Li-Fraumeni syndrome is characterized by **autosomal dominant inheritance** caused by germline mutations in the **TP53 tumor suppressor gene** (statement 1 is correct) [2]. - The syndrome is associated with a significantly increased risk of multiple cancers, including **sarcomas** (osteosarcomas and soft tissue sarcomas), **acute leukemias**, **brain tumors** (gliomas, medulloblastomas), **adrenocortical carcinomas**, and **breast cancer** - often referred to as the "SBLA" spectrum [2], [3]. - Statement 3 is correct: The syndrome IS associated with both **sarcomas and leukemia** (particularly acute leukemias in children) [3]. - Statement 4 is correct: **Brain tumors and osteosarcomas** are hallmark malignancies of Li-Fraumeni syndrome. *1 and 4 only* - While statements 1 and 4 are both correct, this option incorrectly excludes statement 3. - Statement 3 is medically accurate: **leukemias** (particularly acute leukemias) ARE part of the classic Li-Fraumeni cancer spectrum and represent one of the defining malignancies of the syndrome. - Excluding leukemia from the Li-Fraumeni spectrum is a significant medical error. *1 and 3 only* - Statement 1 is correct regarding **autosomal dominant inheritance** and the **TP53 gene** [2]. - Statement 3 is also correct regarding **sarcomas and leukemia** [1]. - However, this option incorrectly excludes statement 4, which correctly identifies **brain tumors and osteosarcomas** as part of the Li-Fraumeni spectrum. *1 only* - Statement 1 correctly identifies the **autosomal dominant inheritance** and involvement of the **TP53 gene** [2]. - However, this option is incomplete as it excludes statements 3 and 4, both of which accurately describe the characteristic cancer spectrum of Li-Fraumeni syndrome. - The specific cancer risks (sarcomas, leukemias, brain tumors, osteosarcomas) are essential defining features of the syndrome [3]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Neoplasia, pp. 297-298. [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. 227-228. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Neoplasia, pp. 298-300.
Question 2: Which of the following genetic syndromes are associated with brain tumours? 1. Neurofibromatosis type 1 2. Neurofibromatosis type 2 3. Tuberous sclerosis 4. Wiskott-Aldrich syndrome Select the answer using the code given below.
- A. 1, 2 and 3 (Correct Answer)
- B. 1, 3 and 4
- C. 1 and 2 only
- D. 2, 3 and 4
Explanation: ***1, 2 and 3*** - **Neurofibromatosis type 1 (NF1)**, **Neurofibromatosis type 2 (NF2)**, and **Tuberous sclerosis (TSC)** are all well-established genetic syndromes associated with an increased risk of developing various brain tumors [1]. - NF1 is linked to **optic pathway gliomas**, NF2 to **schwannomas** and **meningiomas**, and TSC to **subependymal giant cell astrocytomas (SEGAs)** [1], [2]. *1 and 2 only* - This option is incomplete as it correctly identifies NF1 and NF2 but omits Tuberous sclerosis, which is also strongly associated with brain tumours [1]. - While NF1 and NF2 are major genetic risk factors for brain tumors, excluding TSC would be an inaccurate representation of conditions linked to these abnormalities [1]. *1, 3 and 4* - This option incorrectly includes **Wiskott-Aldrich syndrome (WAS)**, which is an **immunodeficiency disorder** and not typically associated with primary brain tumours. - Although WAS can lead to an increased risk of lymphomas, these are generally not considered primary brain tumors [1] in the context of genetic syndromes predisposing to such growths. *2, 3 and 4* - This option again incorrectly includes **Wiskott-Aldrich syndrome** while omitting **Neurofibromatosis type 1**, a significant genetic syndrome linked to brain tumors [1]. - Omitting NF1, a condition known for an increased risk of gliomas, renders this option incomplete and inaccurate. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Manifestations Of Central And Peripheral Nervous System Disease, pp. 724-725. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Central Nervous System, pp. 1318-1319.
Question 3: Which of the following are metabolic causes of splenic enlargement?
- A. Porphyria and Felty's syndrome
- B. Amyloid and Gaucher's disease (Correct Answer)
- C. Myelofibrosis and Weil's disease
- D. Rickets and Still's disease
Explanation: ***Amyloid and Gaucher's disease*** - **Amyloidosis** is characterized by the extracellular deposition of insoluble abnormal **fibrillar proteins (amyloid)** in various organs, including the spleen, leading to its enlargement [2]. - **Gaucher's disease** is a **lysosomal storage disorder** where macrophages accumulate **glucocerebroside**, particularly in the spleen, liver, and bone marrow, causing significant **splenomegaly** [1]. *Porphyria and Felty's syndrome* - **Porphyria** is a group of metabolic disorders primarily affecting **heme synthesis**, leading to diverse symptoms, but **splenomegaly** is not a primary or prominent feature. - **Felty's syndrome** is a severe manifestation of **rheumatoid arthritis** combined with **splenomegaly** and **neutrogenia**, and while it causes splenomegaly, it's an **immune-mediated** condition rather than a primary metabolic storage disease. *Myelofibrosis and Weil's disease* - **Myelofibrosis** is a **myeloproliferative neoplasm** characterized by bone marrow fibrosis, extramedullary hematopoiesis (often in the spleen), and **splenomegaly**, but it is not a metabolic disorder [3]. - **Weil's disease** is a severe form of **leptospirosis**, an **infectious disease** that can cause hepatosplenomegaly, but it is not a metabolic cause. *Rickets and Still's disease* - **Rickets** is a bone disease caused by a **vitamin D deficiency** leading to impaired bone mineralization, and it does not typically cause **splenomegaly**. - **Still's disease** (Systemic Juvenile Idiopathic Arthritis in children, or Adult-Onset Still's Disease) is an **inflammatory disorder** characterized by fever, rash, joint pain, and can cause **splenomegaly** as part of a systemic inflammatory response, not due to a metabolic storage issue. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 162-163. [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. [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. 631-632.
Question 4: The most common type of brain tumour associated with neurofibromatosis type 1 is
- A. acoustic neuroma
- B. meningioma
- C. medulloblastoma
- D. astrocytoma (Correct Answer)
Explanation: ***Astrocytoma*** - **Pilocytic astrocytoma** is the most common brain tumor associated with **Neurofibromatosis type 1 (NF1)**, particularly in children and young adults [1]. - These tumors often occur in the **optic pathways**, **brainstem**, or **cerebellum** in patients with NF1. *Acoustic neuroma* - **Vestibular schwannomas** (acoustic neuromas) are characteristic of **Neurofibromatosis type 2 (NF2)**, not NF1 [2]. - NF2 typically involves **bilateral vestibular schwannomas** and other cranial nerve tumors [2]. *Meningioma* - Meningiomas are also more commonly associated with **NF2**, though they can occur sporadically [2]. - They are generally less common in NF1 patients and are not considered the hallmark brain tumor. *Medulloblastoma* - Medulloblastoma is a **highly malignant primary brain tumor** that occurs predominantly in children but is not specifically linked to NF1 [1]. - Its presence is not a defining feature of the NF1 syndrome. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Central Nervous System, pp. 1319-1320. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Manifestations Of Central And Peripheral Nervous System Disease, pp. 724-728.
Question 5: Which of the following are correct regarding pathology of stress urinary incontinence? 1. Hypermobility of urethra 2. Descent of bladder neck and proximal urethra below pelvic diaphragm 3. Lowered urethral pressure 4. Increased detrusor activity
- A. 2 and 4
- B. 3 and 4
- C. 1, 2 and 4
- D. 1 and 2
- E. 1, 2 and 3 (Correct Answer)
Explanation: ***1, 2 and 3*** - **Hypermobility of the urethra**, **descent of the bladder neck and proximal urethra below the pelvic diaphragm**, and **lowered urethral pressure** are all key pathological factors in stress urinary incontinence. - **Statements 1 and 2** represent **urethral hypermobility** (Type 1 and 2 stress incontinence), where anatomical changes lead to inadequate urethral support during increased intra-abdominal pressure. - **Statement 3** represents **intrinsic sphincter deficiency (ISD)** or Type 3 stress incontinence, characterized by lowered urethral closure pressure due to weakness of the urethral sphincter mechanism itself. - Both mechanisms result in **stress urinary incontinence** - involuntary urine loss during activities that increase intra-abdominal pressure (coughing, sneezing, exercise). *1 and 2* - While **hypermobility of the urethra** and **descent of the bladder neck** are correct for stress urinary incontinence, this answer is incomplete as it excludes **lowered urethral pressure** (intrinsic sphincter deficiency), which is also a recognized pathological mechanism of stress incontinence. *2 and 4* - **Increased detrusor activity** is characteristic of **urge incontinence** (overactive bladder), not stress urinary incontinence, where the primary issue is urethral support or sphincter competence. - This option incorrectly includes a feature of urge incontinence rather than stress incontinence. *3 and 4* - **Increased detrusor activity** is related to urge incontinence, where involuntary bladder contractions cause leakage, which is distinct from stress incontinence. - This option is incorrect because it excludes the hypermobility mechanism and includes urge incontinence pathology. *1, 2 and 4* - Although **hypermobility of the urethra** and **descent of the bladder neck** are correct for stress urinary incontinence, **increased detrusor activity** is a characteristic of urge incontinence. [1] - This option inaccurately combines stress and urge incontinence mechanisms. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Lower Urinary Tract and Male Genital System, pp. 972-973.