INI-CET 2025 - Pathology PYQs Practice Questions

Q: Which of the following is an incorrect gene-disease association?

TP53 - Mucosal Neuroma. ***TP53 - Mucosal Neuroma*** - This is an **incorrect association**. Mucosal neuromas are a hallmark feature of **Multiple Endocrine Neoplasia type 2B (MEN 2B)** [2]. - MEN 2B is caused by a germline gain-of-function mutation in the **RET proto-oncogene**, not the TP53 tumor suppressor gene (which is associated with **Li-Fraumeni syndrome**). *STK11 - Breast Cancer* - This is a **correct association**. Mutations in the **STK11** gene cause **Peutz-Jeghers syndrome (PJS)**. - Patients with PJS have a significantly increased risk of developing several malignancies, including gastrointestinal cancers and non-GI cancers like **breast cancer**. *PTEN - Thyroid Carcinoma* - This is a **correct association**. Germline mutations in the **PTEN** gene are responsible for **Cowden Syndrome**. - Cowden Syndrome is characterized by hamartomas and a high lifetime risk of developing cancers, most notably **follicular thyroid carcinoma** and breast cancer. *BRCA2 - Prostate Carcinoma* - This is a **correct association**. Germline mutations in **BRCA2** are strongly linked to hereditary breast and ovarian cancer syndromes [1]. - Men with **BRCA2** mutations have a substantially elevated risk of developing **prostate carcinoma**, often presenting with high-grade, aggressive disease. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Pancreas, pp. 898-899. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Endocrine System, pp. 1139-1140. [Practice more Pathology PYQs on OnCourse]

Q: HLA-mismatched transplant is not a problem in which of the following diseases?

Bare lymphocyte syndrome. **Bare lymphocyte syndrome (Correct)** - **Bare Lymphocyte Syndrome** (BLS) is characterized by a failure to express **MHC Class I (Type I)** or **MHC Class II (Type II)** molecules on the cell surface, crucial for antigen presentation. - The absence of functional MHC in the recipient means their cells cannot effectively present the donor's HLA antigens, minimizing host immune rejection (host-versus-graft rejection) and allowing for the successful use of **HLA-mismatched transplants**. *Wiskott-Aldrich syndrome (Incorrect)* - This X-linked immunodeficiency involves the **WASp gene** and affects the cytoskeleton of hematopoietic cells, leading to defects in **T-cell function** and a high risk of autoimmune disease. - Since the patient's capacity for MHC presentation is generally intact, standard severe **Graft-versus-Host Disease (GvHD)** is a major risk following mismatched transplant, necessitating stringent HLA matching. *Job's syndrome (Incorrect)* - Job's syndrome (Hyper-IgE syndrome) is typically caused by mutations in **STAT3**, impairing signal transduction necessary for Th17 cell differentiation and resulting in defective neutrophil chemotaxis. - This syndrome does not eliminate the ability of the recipient's cells to express and utilize MHC molecules; therefore, an **HLA-matched donor** is required to prevent transplant rejection and GvHD. *Chediak-Higashi syndrome (Incorrect)* - Caused by a mutation in the **LYST gene**, leading to defective lysosomal trafficking, which primarily affects phagocytes and pigment cells. - Although it is an immunodeficiency, the fundamental mechanisms for T-cell recognition of foreign alloantigens (such as mismatched HLA) are functional, making a severe **HLA mismatch** highly problematic and usually fatal. [Practice more Pathology PYQs on OnCourse]

Q: Why does not every Helicobacter pylori infection lead to ulcers?

Majority of H. pylori infections are asymptomatic. The vast majority of H. pylori infections are asymptomatic or cause only mild gastritis, meaning the organism's presence alone is not sufficient to cause pathology [1]. Only a small percentage (around 10-20%) of individuals infected with Helicobacter pylori will develop a peptic ulcer or gastric malignancy [1]. The organism generally colonizes the gastric antrum, leading to chronic gastritis and potentially ulcers through increased gastrin and acid secretion; however, in most people, this subsequent hypergastrinaemia has no clinical consequences [1]. Host factors and environmental influences determine who develops ulcers, but the baseline state is generally non-ulcerative gastritis. While increased risk of peptic ulcer disease occurs when H. pylori is present with NSAIDs, these are cofactors that damage the mucosal barrier and do not explain the high rate of asymptomatic carriage in the general population. [Practice more Pathology PYQs on OnCourse]

Question 1

Which of the following is an incorrect gene-disease association?

Accepted Answer

TP53 - Mucosal Neuroma

Answer

BRCA2 - Prostate Carcinoma

Answer

STK11 - Breast Cancer

Answer

PTEN - Thyroid Carcinoma

Question 2

Which of the following is not an aneuploidy?

Accepted Answer

Bloom Syndrome

Answer

Trisomy 13

Answer

Trisomy 21

Answer

Klinefelter Syndrome

Question 3

HLA-mismatched transplant is not a problem in which of the following diseases?

Accepted Answer

Bare lymphocyte syndrome

Answer

Job's syndrome

Answer

Wiskott-Aldrich syndrome

Answer

Chediak-Higashi syndrome

Question 4

Transplant rejection does not occur in which of the following conditions?

Accepted Answer

Severe Combined Immunodeficiency (SCID)

Answer

Bare lymphocyte syndrome

Answer

Chronic granulomatous disease

Answer

DiGeorge syndrome

Question 5

Why does not every Helicobacter pylori infection lead to ulcers?

Accepted Answer

Majority of H. pylori infections are asymptomatic

Answer

H. pylori infects the antrum even in asymptomatic individuals

Answer

Disease associated with host factors and environmental influences

Answer

Increased risk of peptic ulcer disease when H. pylori is present with NSAIDs

Question 6

In renal transplant biopsy, which of the following stains is not used to identify organisms?

Accepted Answer

Congo red

Answer

Masson Fontana

Answer

PAS (Periodic acid-Schiff) stain

Answer

Gomori methenamine silver

Question 7

Histopathological features of granulosa cell tumor include all except:

Accepted Answer

CA-125 positivity

Answer

Microfollicular pattern

Answer

Coffee bean nuclei

Answer

Call-Exner bodies

Question 8

Caspase-1 mediated cell death with inflammation is known as

Accepted Answer

Pyroptosis

Answer

Necroptosis

Answer

Necrosis

Answer

Ferroptosis

Question 9

Which gene would you test if the patient has a family history of breast and ovarian cancer?

Accepted Answer

BRCA1/2

Answer

P53

Answer

CDH1

Answer

PTEN

Question 10

Least common finding in diabetic kidney is

Accepted Answer

Armanni-Ebstein

Answer

Podocyte loss

Answer

GBM thickening

Answer

Mesangial widening

INI-CET 2025 — Pathology