What are the correct options regarding Peutz-Jeghers syndrome:

1. STK 11 mutation

2. Shows arborising pattern

3. Autosomal dominant

4. Congenital hypertrophy of retinal pigment epithelium

1. A

   1, 2, 3 are correct

2. B

   1, 2, 4 are correct

3. C

   3 & 4 are correct

4. D

   1, 2 are correct

Appeared in: INI-CET EXAM -2025

Explanation

• Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disorder, meaning a single copy of the mutated gene is sufficient to cause the disease.
• It is caused by a germline mutation in the STK11 (also known as LKB1) gene, which functions as a tumor suppressor.
• A key histological feature of PJS polyps is the arborizing pattern, which is a tree-like branching of smooth muscle tissue throughout the polyp.
• Therefore, statements 1, 2, and 3 accurately describe the syndrome.

Why Other Options Were Wrong

• Option B: This option incorrectly includes statement 4. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a classic finding in Familial Adenomatous Polyposis (FAP), not Peutz-Jeghers syndrome.
• Option C: This option is incorrect because it includes statement 4 (associated with FAP) and omits the correct statements 1 (STK11 mutation) and 2 (arborising pattern).
• Option D: This option is incomplete. While statements 1 and 2 are correct, it omits statement 3, which correctly identifies the autosomal dominant inheritance pattern of PJS.

Related Visual

• Visual 1: Clinical Photo - Showing the characteristic perioral and labial melanotic macules (dark freckles) in a patient with PJS.
• Visual 2: Histopathology Image - A microscopic view of a PJS polyp clearly demonstrating the 'arborizing' or tree-like branching pattern of smooth muscle bundles extending into the lamina propria.

Clinical Relevance

• Nursing practice connection: Knowing The genetic, pathological, and clinical features of Peutz-Jeghers Syndrome (PJS) helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
• Recognizing the features of PJS is crucial for nurses as it allows for early identification and referral for genetic counseling and cancer surveillance.
• Patients with PJS require lifelong monitoring for complications like intussusception, bleeding, and the development of various cancers (GI, breast, lung, pancreas, etc.).
• What if? If a patient with intestinal polyps also presented with congenital hypertrophy of the retinal pigment epithelium (CHRPE) on an eye exam, the diagnosis would shift from PJS to Familial Adenomatous Polyposis (FAP). This would change the cancer surveillance protocol, focusing almost exclusively on the colon, which has a near 100% risk of cancer in untreated FAP.

How to Approach the Question

• This is a multiple-feature identification question. The goal is to evaluate the truthfulness of each individual statement about a specific medical condition.
• Step 1: Read the name of the syndrome (Peutz-Jeghers syndrome) and recall its key characteristics.
• Step 2: Analyze each numbered statement one by one. Verify if it's a known feature of PJS. (1. STK11 mutation? Yes. 2. Arborising pattern? Yes. 3. Autosomal dominant? Yes. 4. CHRPE? No, that's FAP).
• Step 3: Based on your analysis, determine the combination of correct statements (1, 2, and 3 are correct).
• Step 4: Compare your combination with the given options and select the one that matches exactly.

Concept Tested & Keywords

• Concept Tested: The genetic, pathological, and clinical features of Peutz-Jeghers Syndrome (PJS).
• Stem keywords: Peutz-Jeghers syndrome, STK 11 mutation, arborising pattern, autosomal dominant, Congenital hypertrophy of retinal pigment epithelium
• Lead-in keywords: correct options

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