NEET-PG 2024 - Pathology PYQs Practice Questions

Q: TTF-1 is a tumor marker for which of the following?

Small cell carcinoma. ***Small cell carcinoma*** - **Thyroid transcription factor 1 (TTF-1)** is a nuclear transcription protein expressed in lung and thyroid neoplasms - It is positive in **85-90% of small cell lung carcinomas**, making it a key immunohistochemical marker [1] - TTF-1 helps differentiate small cell carcinoma from other neuroendocrine tumors and extrapulmonary small cell carcinomas [1] *Adenocarcinoma* - TTF-1 is also **strongly positive in 75-80% of lung adenocarcinomas** - It is a primary marker for lung adenocarcinoma, often used with **Napsin A** and **Cytokeratin 7 (CK7)** *Thymoma* - Thymomas are neoplasms of the **thymus gland** and typically express **cytokeratins** but **not TTF-1** - Characteristic markers include **CD5**, **CD117**, and epithelial markers *Melanoma* - Melanomas are cancers of **melanocytes** and express melanocytic markers like **S-100**, **HMB-45**, **Melan-A**, and **SOX10** - **TTF-1** is not expressed in melanoma and helps exclude lung primary when evaluating metastatic disease **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Respiratory Tract Disease, pp. 337-338. [Practice more Pathology PYQs on OnCourse]

Q: Identify the pathological condition shown in the image:

Adenomyoma. ***Adenomyoma*** - The image distinctly shows **endometrial glands and stroma** embedded within the **myometrium** (smooth muscle layer of the uterus), which is the hallmark of adenomyoma [1]. - This condition is essentially a localized form of **adenomyosis**, presenting as a mass [1]. *Intramural fibroid* - An intramural fibroid (leiomyoma) is a **benign tumor of smooth muscle cells**, typically showing a proliferation of uniform spindle cells with characteristic swirling patterns [2]. - It would lack the presence of **endometrial glands and stroma** within the lesion [2]. *Endometriosis* - Endometriosis involves the presence of **endometrial tissue outside the uterus**, such as on the ovaries, peritoneum, or bowel. - While it involves similar tissue, its location is **extrauterine**, whereas the image depicts a lesion within the uterine wall. *Myomatous polyp* - A myomatous polyp (or submucosal fibroid) is a **fibroid that protrudes into the uterine cavity**, often covered by endometrial tissue [2]. - The image does not show a polypoid growth extending into the cavity but rather glandular tissue directly within the muscle wall. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Female Genital Tract Disease, pp. 475-476. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Female Genital Tract, pp. 1024-1025. [Practice more Pathology PYQs on OnCourse]

Q: The diagrammatic representation of the karyotype of an individual indicates a specific genetic abnormality. What is the diagnosis?

Prader-Willi syndrome. ***Prader-Willi syndrome*** - The karyotype shows an abnormality on **chromosome 15**, which is consistent with Prader-Willi syndrome caused by **deletion of 15q11-q13** inherited from the **paternal** chromosome or **maternal uniparental disomy**. - While PWS deletions are typically **submicroscopic**, larger deletions can occasionally be visible on standard karyotyping, particularly when they represent **class I deletions** that are more extensive and involve additional chromosomal material beyond the typical PWS critical region. *Angelman syndrome* - Although Angelman syndrome also involves **chromosome 15q11-q13 deletion**, it results from **maternal** deletion or **paternal uniparental disomy**, and presents with distinctly different clinical features. - Clinical presentation includes **severe intellectual disability**, **ataxia**, **seizures**, **absent speech**, and **inappropriate laughter** (happy demeanor), which differs significantly from the PWS phenotype. *DiGeorge syndrome* - DiGeorge syndrome is caused by **deletion of chromosome 22q11.2**, not chromosome 15 as shown in the karyotype. - Clinical features include **cardiac defects** (conotruncal abnormalities), **thymic hypoplasia**, **parathyroid hypoplasia** (hypocalcemia), **cleft palate**, and characteristic facial features (CATCH-22 syndrome). *Cri du Chat syndrome* - This syndrome results from **deletion of chromosome 5p** (short arm of chromosome 5), not chromosome 15 as indicated in the karyotype. - Characteristic features include **high-pitched cry** resembling a cat's meow in infancy, **intellectual disability**, **microcephaly**, and **distinctive facial features**. [Practice more Pathology PYQs on OnCourse]

Question 1

An athlete collapsed and expired while playing school basketball. Histology of the cardiac specimen is most likely to indicate which of the following conditions?

Accepted Answer

Hypertrophic cardiomyopathy (HCM)

Answer

Dilated cardiomyopathy (DCM)

Answer

Restrictive cardiomyopathy (RCM)

Answer

Arrhythmogenic right ventricular dysplasia (ARVD)

Question 2

Which of the following statements regarding von Willebrand disease is incorrect?

Accepted Answer

Type 1 von Willebrand disease presents with severe bleeding since childhood.

Answer

Type 2 von Willebrand disease is associated with a moderate bleeding tendency.

Answer

Type 3 von Willebrand disease is associated with severe deficiency of factor VIII.

Answer

Type 2 von Willebrand disease includes subtypes with varying defects in von Willebrand factor.

Question 3

TTF-1 is a tumor marker for which of the following?

Accepted Answer

Small cell carcinoma

Answer

Adenocarcinoma

Answer

Thymoma

Answer

Melanoma

Question 4

Identify the pathological condition shown in the image:

Accepted Answer

Adenomyoma

Answer

Intramural fibroid

Answer

Endometriosis

Answer

Myomatous polyp

Question 5

The diagrammatic representation of the karyotype of an individual indicates a specific genetic abnormality. What is the diagnosis?

Accepted Answer

Prader-Willi syndrome

Answer

Angelman syndrome

Answer

Cri du Chat syndrome

Answer

DiGeorge syndrome

Question 6

A 34-year-old female presented with low hemoglobin, platelet count of $25,000 / \mathrm{mm}^{3}$, raised PT and APTT. The image shows a peripheral smear. Which of the following fusion genes is affected?

Accepted Answer

PML-RARA

Answer

IGH-NSD2

Answer

INV 16

Answer

RUNX1-RUNX1T1

Question 7

Identify the gene commonly involved in the condition shown in the image?

Accepted Answer

BRAF V600E

Answer

RAS

Answer

RET

Answer

P53

Question 8

A patient presents with tingling sensation in both legs, polyuria, and weight loss. The bone marrow aspirate findings are shown in the image. What is the most likely diagnosis?

Accepted Answer

Amyloidosis

Answer

Multiple myeloma with renal failure

Answer

Subacute combined degeneration (SACD) with Vitamin B12 deficiency

Answer

Subacute combined degeneration (SACD) with diabetes

Question 9

A patient has a cerebellar mass, renal tumor, and a family history of similar conditions. Which of the following mutations is most likely present in the family?

Accepted Answer

VHL

Answer

Neurofibromatosis (NF1)

Answer

Tuberous Sclerosis Complex (TSC)

Answer

Li-Fraumeni syndrome

Question 10

TTF-1 (Thyroid Transcription Factor-1) immunohistochemical marker is most commonly seen in which of the following?

Accepted Answer

Lung adenocarcinoma

Answer

Squamous Cell Carcinoma (SCC)

Answer

Large cell lung cancer

Answer

Papillary thyroid carcinoma

NEET-PG 2024 — Pathology