Gastrointestinal Pathology Practice Questions

Q: Multiple cutaneous sebaceous adenomas are seen in which of the following conditions?

Muir-Torre syndrome. ### Explanation **Muir-Torre syndrome** is a phenotypic variant of **Lynch syndrome** (Hereditary Non-Polyposis Colorectal Cancer - HNPCC). It is characterized by the association of at least one **sebaceous gland tumor** (sebaceous adenoma, sebaceous carcinoma, or sebaceous epithelioma) and at least one internal malignancy (most commonly colorectal or genitourinary cancers) [1]. The underlying pathophysiology involves germline mutations in **DNA mismatch repair (MMR) genes**, most frequently **MSH2** (90%) and MLH1 [1]. #### Analysis of Options: * **Gardner’s Syndrome (Option A):** A variant of Familial Adenomatous Polyposis (FAP) characterized by intestinal polyps plus extraintestinal manifestations like **osteomas** (mandible), **epidermoid cysts**, and **desmoid tumors**. It is not typically associated with sebaceous adenomas. * **Turcot’s Syndrome (Option B):** Characterized by the association of intestinal polyposis with **Central Nervous System (CNS) tumors**. Specifically, FAP with Medulloblastoma or Lynch syndrome with Glioblastoma multiforme. * **Cowden Syndrome (Option C):** Part of the PTEN hamartoma tumor syndrome. It presents with multiple **trichilemmomas** (hair follicle tumors), oral papillomas, and an increased risk of breast, thyroid, and endometrial cancers. #### NEET-PG High-Yield Pearls: * **Muir-Torre Syndrome:** Think "Sebaceous tumors + Internal malignancy + MSH2 mutation." * **Sebaceous Adenoma:** This is the most specific cutaneous marker for Muir-Torre syndrome. * **Microsatellite Instability (MSI):** These patients exhibit MSI due to defective MMR genes [1]. * **Screening:** Patients presenting with a sebaceous adenoma should be screened for internal malignancies via colonoscopy and imaging. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, p. 817.

Q: Whipple's disease is characterized by which of the following findings?

Foamy macrophages. **Explanation:** **Whipple’s Disease** is a rare systemic infectious disease caused by the Gram-positive actinomycete **_Tropheryma whipplei_** [1]. **Why Option A is Correct:** The hallmark histological finding in the small intestine is the infiltration of the **lamina propria** by numerous **foamy macrophages** [1]. These macrophages contain large amounts of indigestible bacterial cell wall material, which stains intensely positive with **Periodic Acid-Schiff (PAS)** and is **diastase-resistant**. This infiltration causes lymphatic obstruction, leading to malabsorption and steatorrhea [1]. **Analysis of Incorrect Options:** * **Option B (AFB positive):** While the macrophages in Whipple’s disease are PAS-positive, they are **AFB-negative** [1]. This is a crucial diagnostic distinction from *Mycobacterium avium-intracellulare* (MAI) infection, which also presents with foamy PAS-positive macrophages but is acid-fast. * **Option C (Papillary projections):** These are characteristic of certain malignancies (e.g., Papillary Thyroid Carcinoma) or inflammatory conditions, but not Whipple’s disease. * **Option D (Villous atrophy):** While the villi may appear widened or "blunted" due to macrophage infiltration, total villous atrophy is the classic feature of **Celiac Disease**, not Whipple’s. **High-Yield Clinical Pearls for NEET-PG:** * **Clinical Tetrad:** Malabsorption (weight loss/diarrhea), Hyperpigmentation, Lymphadenopathy, and Polyarthritis (often the earliest symptom) [1]. * **Electron Microscopy:** Shows characteristic **"bacilliform bodies"** (the causative organism). * **Mnemonic:** **PAS** the **Whipped** cream (PAS-positive macrophages in Whipple’s). * **Treatment:** Long-term antibiotics (usually Ceftriaxone followed by Trimethoprim-sulfamethoxazole). **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Gastrointestinal Tract, pp. 798-799.

Q: What does Hirschsprung's disease involve?

Meissner and Auerbach plexus deficiency. ### Explanation **Hirschsprung’s Disease (Congenital Aganglionic Megacolon)** is a developmental disorder characterized by the failure of neural crest cells to migrate cranio-caudally during the 5th to 12th week of gestation. **Why Option C is Correct:** The hallmark of the disease is the **absence of ganglion cells** in the **Meissner (submucosal)** and **Auerbach (myenteric)** plexuses. This aganglionosis typically begins at the internal anal sphincter and extends proximally for a variable distance (most commonly involving the rectosigmoid). The lack of these plexuses leads to a failure of relaxation in the affected segment, resulting in functional bowel obstruction and proximal dilation (megacolon). **Why Other Options are Incorrect:** * **A & B (Peptides and Bile salts):** These are involved in digestion and absorption but have no primary role in the pathogenesis of Hirschsprung’s disease, which is a neuro-anatomical defect. * **D (Vagus nerve excess):** While there is a compensatory hypertrophy of extrinsic cholinergic nerve fibers in the aganglionic segment, the disease is defined by a *deficiency* of intrinsic plexuses, not an excess of the vagus nerve. **High-Yield Clinical Pearls for NEET-PG:** * **Presentation:** Delayed passage of meconium (>48 hours), abdominal distension, and bilious vomiting. * **Diagnosis:** **Rectal Suction Biopsy** is the Gold Standard (shows absence of ganglion cells and increased Acetylcholinesterase staining). * **Radiology:** Barium enema shows a "transition zone" (narrow aganglionic segment vs. dilated proximal colon). * **Associated Condition:** Strongly associated with **Down Syndrome** (Trisomy 21) and mutations in the **RET proto-oncogene**. * **Physical Exam:** "Blast sign" or "Squirt sign" (explosive release of stool/gas on digital rectal exam).

Question 1

Multiple cutaneous sebaceous adenomas are seen in which of the following conditions?

Accepted Answer

Muir-Torre syndrome

Answer

Gardner's syndrome

Answer

Turcott's syndrome

Answer

Cowden syndrome

Question 2

Anti-transglutaminase antibodies are typically seen in which condition?

Accepted Answer

Celiac sprue

Answer

Tropical sprue

Answer

Crohn's disease

Answer

Familial adenomatous polyposis

Question 3

A 48-year-old female presents with epigastric pain which has worsened over the past week. The patient notes that the pain is exacerbated by food and is accompanied by nausea and vomiting. She also reports weight loss. Which of the following histopathological or gross findings cannot be held responsible for this clinical scenario?

Accepted Answer

None of the above

Answer

Gastric adenocarcinoma

Answer

Peptic ulcer disease

Answer

Chronic pancreatitis

Question 4

A female patient presents with diarrhea and abdominal distension. Small intestinal biopsy reveals villous atrophy and crypt hyperplasia. What is the most likely diagnosis?

Accepted Answer

Celiac sprue

Answer

Tropical sprue

Answer

Whipple's disease

Answer

Hirschsprung's disease

Question 5

Whipple's disease is characterized by which of the following findings?

Accepted Answer

Foamy macrophages

Answer

Acid-fast bacilli (AFB) positive

Answer

Papillary projections

Answer

Villous atrophy

Question 6

Which of the following is a feature of Barrett's esophagus?

Accepted Answer

Intestinal metaplasia

Answer

Always gastric type of epithelium

Answer

Squamous cell carcinoma is more common

Answer

Present as patchy or ring involvement

Question 7

Which is the most specific marker for gastrointestinal stromal tumors (GIST)?

Accepted Answer

DOG 1

Answer

CD 117

Answer

CD 34

Answer

PDGFRA mutation

Question 8

All of the following predispose to carcinoma of the esophagus except?

Accepted Answer

Zenker's diverticulum

Answer

Achalasia

Answer

Barrett's esophagus

Answer

Plummer-Vinson disease

Question 9

Histologic sections of a parotid gland tumor found to be infiltrating along the facial nerve are most likely to reveal which of the following?

Accepted Answer

Atypical cells forming tubular and cribriform patterns

Answer

Infiltrating groups of vacuolated epithelial cells

Answer

A mixture of epithelial structures and mesenchyme-like stroma

Answer

A mixture of squamous epithelial cells and mucus-secreting cells

Question 10

What does Hirschsprung's disease involve?

Accepted Answer

Meissner and Auerbach plexus deficiency

Answer

Peptides

Answer

Bile salts

Answer

Vagus nerve excess

Gastrointestinal Pathology — MCQs

Gastrointestinal Pathology — MCQs

On this page

Practice by Chapter

Want unlimited practice?