Gastrointestinal Pathology Practice Questions

Q: A female patient presents with pigmentation of the lips and oral mucosa along with intestinal polyps. Her sister also presents with a similar history. What is the most probable diagnosis?

Peutz-Jeghers syndrome. **Explanation:** The clinical presentation of **mucocutaneous pigmentation** (lips, oral mucosa, hands, and feet) combined with **multiple gastrointestinal polyps** and a positive family history is the classic triad for **Peutz-Jeghers Syndrome (PJS)** [1]. **1. Why Peutz-Jeghers Syndrome is correct:** PJS is an **Autosomal Dominant** disorder caused by a germline mutation in the **STK11 (LKB1)** gene on chromosome 19 [1]. The polyps are characteristically **hamartomatous**, showing a "Christmas tree" branching pattern of smooth muscle (arborization) on histology [1]. While the polyps themselves have low malignant potential, patients have a significantly increased risk of developing various cancers (colorectal, breast, pancreatic, and gynecological) [1]. **2. Why other options are incorrect:** * **Carcinoid tumor:** These are neuroendocrine tumors that present with "Carcinoid Syndrome" (flushing, diarrhea, wheezing) due to serotonin release, not mucocutaneous pigmentation. * **Melanoma:** While it involves pigment-producing cells, it presents as asymmetrical, irregular skin lesions or masses, not as a systemic syndrome with intestinal hamartomas. * **Villous adenoma:** These are neoplastic epithelial polyps (often in the rectum) known for causing secretory diarrhea and hypokalemia [1]. They are not associated with oral pigmentation. **High-Yield Clinical Pearls for NEET-PG:** * **Inheritance:** Autosomal Dominant [1]. * **Gene:** STK11/LKB1 (Tumor suppressor gene) [1]. * **Histology:** "Arborizing" smooth muscle bundles (Diagnostic hallmark) [1]. * **Commonest Site:** Small intestine (Jejunum > Ileum > Duodenum) [1]. * **Most common complication:** Intussusception (due to large polyps acting as lead points). **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, pp. 813-814.

Q: Which of the following is NOT a component of Carney's triad?

Osteomas. **Explanation:** **Carney’s Triad** is a rare, non-hereditary syndrome primarily affecting young females. It is characterized by the synchronous or metachronous occurrence of three specific tumors. 1. **Why Option C is correct:** **Osteomas** are not a component of Carney’s triad. Osteomas (particularly of the mandible and skull) are classic features of **Gardner Syndrome**, which is a variant of Familial Adenomatous Polyposis (FAP) associated with intestinal polyps and soft tissue tumors. 2. **Why the other options are incorrect:** * **Option A (GIST):** These are typically multifocal and epithelioid in Carney’s triad. Unlike sporadic GISTs, these are usually **SDH-deficient** (succinate dehydrogenase) and do not harbor KIT or PDGFRA mutations. * **Option B (Pulmonary chondromas):** These are benign cartilaginous tumors of the lung. They are often asymptomatic and discovered incidentally on imaging. * **Option D (Extra-adrenal paraganglioma):** These are catecholamine-secreting tumors arising from the sympathetic chain [1]. **High-Yield Clinical Pearls for NEET-PG:** * **The "Triad" vs. Reality:** Although called a triad, only about 25% of patients present with all three tumors simultaneously. The presence of any **two** is sufficient for diagnosis. * **Carney-Stratakis Syndrome:** Do not confuse Carney’s Triad with Carney-Stratakis Syndrome. The latter is a **hereditary** dyad (GIST and Paraganglioma) caused by germline mutations in SDH subunits (A, B, C, or D) [1]. * **Carney Complex:** This is a distinct autosomal dominant condition (PRKAR1A mutation) characterized by "NAME" or "LAMB" syndrome (Myxomas, spotty skin pigmentation, and endocrine overactivity). **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Head and Neck, pp. 748-749.

Question 1

Endoscopy performed on a patient with persistent substernal pain despite antacid use demonstrates irregular erythematous patches several centimeters above the gastroesophageal junction. Biopsy of one of these lesions demonstrates epithelial metaplasia. Which of the following cell types was most likely observed in the involved areas?

Accepted Answer

Non-ciliated columnar epithelium

Answer

Ciliated columnar epithelium

Answer

Cuboidal epithelium

Answer

Keratinizing squamous epithelium

Question 2

All are true about Barrett's esophagus, EXCEPT?

Accepted Answer

Screening endoscopy is required in all patients with GERD symptoms

Answer

Specialised columnar metaplasia

Answer

Major risk factor for adenocarcinoma of the esophagus

Answer

Endoscopic biopsy is the gold standard for confirmation

Question 3

A female patient presents with pigmentation of the lips and oral mucosa along with intestinal polyps. Her sister also presents with a similar history. What is the most probable diagnosis?

Accepted Answer

Peutz-Jeghers syndrome

Answer

Carcinoid tumor

Answer

Melanoma

Answer

Villous adenoma

Question 4

Linitis plastica is commonly seen in which of the following conditions?

Accepted Answer

Carcinoma of the stomach

Answer

Sarcoidosis

Answer

Lymphoma

Answer

Leiomyosarcoma

Question 5

Which of the following carries the least risk of colonic malignancy?

Accepted Answer

Peutz-Jeghers syndrome

Answer

Familial adenomatous polyposis

Answer

Gardner's syndrome

Answer

Villous adenoma

Question 6

A 53-year-old woman presents with a 5-month history of nausea, vomiting, and mid-epigastric pain. Physical examination reveals no significant findings. An abdominal CT scan shows gastric outlet obstruction. Upper gastrointestinal endoscopy reveals an ulcerated, 2x4 cm bulky mass in the antrum at the pylorus, and a urease test is positive. Which of the following neoplasms is most likely to be identified in a biopsy specimen of this mass?

Accepted Answer

Adenocarcinoma

Answer

Leiomyosarcoma

Answer

Neuroendocrine carcinoma

Answer

Non-Hodgkin lymphoma

Question 7

Linitis plastica is found in all except?

Accepted Answer

Leiomyosarcoma

Answer

Syphilis

Answer

Carcinoma

Answer

Sarcoid

Question 8

Which of the following is NOT a component of Carney's triad?

Accepted Answer

Osteomas

Answer

Gastrointestinal stromal tumors (GIST)

Answer

Pulmonary chondromas

Answer

Extra-adrenal paraganglioma

Question 9

Helicobacter pylori has been implicated in all, except:

Accepted Answer

Gastric leiomyoma

Answer

Gastric ulcer

Answer

Gastric carcinoma

Answer

Gastric lymphoma

Question 10

Which polyp has the maximum malignant potential?

Accepted Answer

Sessile

Answer

Pedunculated

Answer

Superficial spreading

Answer

Any of the above

Gastrointestinal Pathology — MCQs

Gastrointestinal Pathology — MCQs

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