UPSC-CMS 2025 - Pathology PYQs Practice Questions

Q: Autosomal dominant mutations in which one of the following genes may cause focal segmental glomerulosclerosis associated with abnormal genitalia, Wilms tumor and mental retardation?

WT1. ***WT1*** - Mutations in the **WT1 (Wilms tumor 1) gene** are associated with **Denys-Drash syndrome** and **Frasier syndrome**, both of which feature **focal segmental glomerulosclerosis (FSGS)**, abnormal genitalia, and an increased risk of **Wilms tumor**. - **Denys-Drash syndrome** specifically includes **glomerulopathy**, **pseudohermaphroditism** (abnormal genitalia), and **Wilms tumor**, often with some degree of mental retardation. *INF2* - Mutations in the **INF2 gene** are a common cause of **autosomal dominant FSGS**, often without extra-renal manifestations. - While it causes FSGS, it typically does not present with abnormal genitalia, Wilms tumor, or mental retardation. *LMX1B* - Mutations in the **LMX1B gene** are responsible for **Nail-Patella Syndrome**, which is characterized by abnormalities of the nails, patellae, elbows, and iliac horns. - It can cause FSGS, but it is not associated with abnormal genitalia, Wilms tumor, or mental retardation. *APOL1* - **APOL1 gene variants** (G1 and G2 risk alleles) are strongly associated with a higher risk of developing **FSGS** and other kidney diseases, particularly in individuals of African ancestry. - While it is a significant genetic risk factor for FSGS, APOL1 mutations are not linked to abnormal genitalia, Wilms tumor, or mental retardation. [Practice more Pathology PYQs on OnCourse]

Q: 'Masson Bodies' formed due to proliferation of immature collagen are a characteristic histopathological finding seen in which of the following conditions?

Cryptogenic Organizing Pneumonia. ***Cryptogenic Organizing Pneumonia*** - **Masson bodies**, which are intraluminal plugs of organizing connective tissue composed of fibroblasts, myofibroblasts, and immature collagen, are the **hallmark histopathological feature** of cryptogenic organizing pneumonia (COP) [1]. - These plugs are found predominantly in the **alveolar ducts** and **bronchioles**, leading to a characteristic pattern of organizing pneumonia [1]. *Lymphocytic Interstitial Pneumonia* - Characterized by a **dense interstitial infiltrate** dominated by **lymphocytes**, plasma cells, and histiocytes, often forming germinal centers. - It is frequently associated with **immunodeficiency states** such as HIV infection or autoimmune diseases like Sjögren's syndrome. *Desquamative Interstitial Pneumonia* - Marked by the accumulation of a large number of **macrophages** within the alveolar spaces, with minimal interstitial inflammation or fibrosis. - Primarily seen in **smokers** and is thought to be a reaction to inhaled particulate matter. *Respiratory Bronchiolitis* - Characterized by **peribronchiolar inflammation** and fibrosis, with pigment-laden macrophages accumulating within the respiratory bronchioles. - This condition is also strongly associated with **cigarette smoking** and is considered a milder variant of interstitial lung disease. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Respiratory Tract Disease, pp. 330-331. [Practice more Pathology PYQs on OnCourse]

Q: Melanosis coli, which occurs due to long term consumption of stimulant laxatives, presents as brown discolouration of colonic mucosa due to deposition of which one of the following pigments?

Lipofuscin. ***Lipofuscin*** - **Melanosis coli** is characterized by the accumulation of **lipofuscin** in macrophages within the lamina propria of the colon. - This accumulation is typically induced by the long-term use of **stimulant laxatives**, particularly those containing anthraquinones (e.g., senna, cascara). *Haemoglobin* - **Haemoglobin** is the protein in red blood cells responsible for oxygen transport and does not deposit in the colonic mucosa to cause brown discoloration in melanosis coli. - Its presence in stool typically indicates **gastrointestinal bleeding**, which is a distinct condition from melanosis coli. *Haemosiderin* - **Haemosiderin** is an iron-storage complex that can accumulate in tissues as a result of **hemorrhage** or increased iron load [1]. - While it can cause brown discoloration, it is not the pigment responsible for the characteristic appearance of melanosis coli. *Melanin* - **Melanin** is the pigment primarily responsible for skin and hair color, produced by melanocytes [1]. - It is not found in significant amounts in the colonic mucosa and is not involved in the pathogenesis of melanosis coli. **References:** [1] 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, p. 75. [Practice more Pathology PYQs on OnCourse]

Q: Which one of the following correctly denotes the inheritance pattern of cystic fibrosis?

Autosomal Recessive. ***Autosomal Recessive*** - Cystic fibrosis is an **autosomal recessive** disorder, meaning an individual must inherit **two copies** of the defective gene (one from each parent) to develop the condition. - Parents who are **carriers** (having one normal and one defective gene) typically do not show symptoms but can pass the gene to their children. *X-linked Dominant* - In **X-linked dominant** inheritance, a single copy of a mutated gene on the X chromosome is sufficient to cause the disorder. - This pattern would show common inheritance in females and often more severe phenotypes in males, which is not characteristic of cystic fibrosis. *Autosomal Dominant* - **Autosomal dominant** disorders require only **one copy** of a mutated gene on a non-sex chromosome for the disease to manifest. - If cystic fibrosis were autosomal dominant, affected individuals would typically have an affected parent, and the disease would be much more prevalent than observed. *X-linked Recessive* - **X-linked recessive** disorders primarily affect males, as they have only one X chromosome. Females are typically carriers and less severely affected. - Cystic fibrosis affects males and females nearly equally, which rules out an X-linked recessive inheritance pattern. [Practice more Pathology PYQs on OnCourse]

Q: Which of the following syndromes are caused due to genomic imprinting? I. Rubinstein Taybi syndrome II. Prader-Willi syndrome III. Angelman syndrome IV. Edward syndrome Select the correct answer using the code given below :

II and III. ***II and III (Correct Answer)*** - **Prader-Willi syndrome** and **Angelman syndrome** are classic examples of disorders caused by **genomic imprinting** defects on chromosome 15 [1]. - **Prader-Willi syndrome** results from the loss of paternal 15q11-q13 expression, while **Angelman syndrome** results from the loss of maternal 15q11-q13 expression [1]. - Both conditions demonstrate parent-of-origin effects, where the same chromosomal region causes different phenotypes depending on whether the mutation is inherited from the mother or father [1]. *II and IV (Incorrect)* - While Prader-Willi syndrome is linked to genomic imprinting, **Edward syndrome** (Trisomy 18) is caused by a chromosomal abnormality (an extra copy of chromosome 18), not genomic imprinting. - Edward syndrome presents with distinct clinical features like **micrognathia** and **rocker-bottom feet**, different from imprinting disorders. *I and IV (Incorrect)* - **Rubinstein-Taybi syndrome** is caused by mutations in the **CREBBP** gene or deletion of 16p13.3, which are not related to genomic imprinting. - **Edward syndrome** is a chromosomal aneuploidy (Trisomy 18), not a disorder of genomic imprinting. *I and III (Incorrect)* - **Rubinstein-Taybi syndrome** is a genetic disorder caused by mutations in the CREBBP or EP300 genes, and it is not associated with genomic imprinting. - Only **Angelman syndrome** among these two options is caused by genomic imprinting. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 181-182. [Practice more Pathology PYQs on OnCourse]

Question 1

Autosomal dominant mutations in which one of the following genes may cause focal segmental glomerulosclerosis associated with abnormal genitalia, Wilms tumor and mental retardation?

Accepted Answer

WT1

Answer

INF2

Answer

LMX1B

Answer

APOL1

Question 2

'Masson Bodies' formed due to proliferation of immature collagen are a characteristic histopathological finding seen in which of the following conditions?

Accepted Answer

Cryptogenic Organizing Pneumonia

Answer

Lymphocytic Interstitial Pneumonia

Answer

Desquamative Interstitial Pneumonia

Answer

Respiratory Bronchiolitis

Question 3

Melanosis coli, which occurs due to long term consumption of stimulant laxatives, presents as brown discolouration of colonic mucosa due to deposition of which one of the following pigments?

Accepted Answer

Lipofuscin

Answer

Haemoglobin

Answer

Haemosiderin

Answer

Melanin

Question 4

Which one of the following correctly denotes the inheritance pattern of cystic fibrosis?

Accepted Answer

Autosomal Recessive

Answer

X-linked Dominant

Answer

Autosomal Dominant

Answer

X-linked Recessive

Question 5

Which of the following syndromes are caused due to genomic imprinting?
I. Rubinstein Taybi syndrome
II. Prader-Willi syndrome
III. Angelman syndrome
IV. Edward syndrome

Select the correct answer using the code given below :

Accepted Answer

II and III

Answer

II and IV

Answer

I and IV

Answer

I and III

Question 6

Which of the following are the malignancies associated with lymphoedema?
I. Kaposi Sarcoma
II. Squamous cell carcinoma
III. Malignant melanoma
IV. Leukaemia

Select the correct answer using the code given below :

Accepted Answer

I, II and IV

Answer

II, III and IV

Answer

I, III and IV

Answer

I, II and III

Question 7

Which of the following are the aetiological factors associated with a communicating hydrocephalus ?
I. Post haemorrhagic
II. Lesions within the ventricle
III. CSF infection
IV. Raised CSF protein

Select the correct answer using the code given below :

Accepted Answer

I, III and IV

Answer

I, II and III

Answer

II, III and IV

Answer

I, II and IV

Question 8

What is the most common type of tumour of Vermiform Appendix?

Accepted Answer

Carcinoid tumour

Answer

Germ cell tumour

Answer

Adenocarcinoma

Answer

Papillary cell tumour

Question 9

The earliest specific cystoscopic appearance of Bilharzial cystitis is :

Accepted Answer

Sandy patches

Answer

Pseudo tubercles

Answer

Nodules

Answer

Ulcers

Question 10

Which of the following are poor prognostic factors in endometrial adenocarcinoma?
I. Estrogen and progesterone receptor positivity
II. HER-2/neu gene expression
III. Histologic types papillary serous or clear cell carcinoma
IV. Aneuploid tumours

Select the correct answer using the code given below :

Accepted Answer

II, III and IV

Answer

I, III and IV

Answer

I, II and IV

Answer

I, II and III

UPSC-CMS 2025 — Pathology