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: NORCET 10 Mains

Explanation

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• Peutz-Jeghers Syndrome (PJS) is an autosomal dominant condition, meaning only one copy of the mutated gene is needed to cause the disorder.
• It is caused by a germline mutation in the STK11 (also known as LKB1) tumor suppressor gene.
• The characteristic hamartomatous polyps in PJS display a unique 'arborizing' or tree-like branching pattern of smooth muscle on histopathology.
• Therefore, statements 1, 2, and 3 are all correct descriptions of PJS.

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 PJS.
• Option C: This option is incorrect because it includes statement 4 (a feature of FAP) and omits two correct statements about PJS: the STK11 mutation (statement 1) and the arborizing pattern of polyps (statement 2).
• Option D: This option is incomplete. While statements 1 (STK11 mutation) and 2 (arborizing pattern) are correct, it omits statement 3, which correctly identifies the autosomal dominant inheritance pattern of PJS.

Related Visual

Clinical Relevance

• Nursing practice connection: Knowing Clinical, genetic, and histopathological features of Peutz-Jeghers Syndrome helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
• Recognizing the features of PJS is critical for nurses as it alerts them to a patient's significantly increased lifetime risk for various cancers, including gastrointestinal, breast, lung, and pancreatic cancer.
• Patients diagnosed with PJS require a lifelong, multi-system cancer surveillance plan, and nurses play a key role in patient education and ensuring adherence to follow-up appointments.
• Genetic counseling is a vital nursing intervention for affected individuals and their families due to the 50% risk of passing the condition to each child.

How to Approach the Question

• First, recognize this question type requires you to evaluate multiple statements and find the option that correctly groups the true statements.
• Read each of the four numbered statements carefully.
• Evaluate each statement individually as 'True' or 'False' based on your knowledge of Peutz-Jeghers Syndrome.
• Statement 1 (STK11 mutation) is True. Statement 2 (Arborising pattern) is True. Statement 3 (Autosomal dominant) is True. Statement 4 (CHRPE) is False; it's related to FAP.
• After evaluating all statements, look for the option (A, B, C, or D) that matches your findings.
• Option A states '1, 2, 3 are correct', which perfectly matches your evaluation. The other options either include the false statement (4) or omit a true statement.

Concept Tested & Keywords

• Concept Tested: Clinical, genetic, and histopathological features of Peutz-Jeghers Syndrome
• Stem keywords: Peutz-Jeghers syndrome, STK 11 mutation, arborising pattern, autosomal dominant, congenital hypertrophy of retinal pigment epithelium
• Lead-in keywords: correct options
• Negative lead-in flag: false

Question ID

QBUcdcYRrkEgeMqicxanFj

Copy ID

Reference Book

E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed p. 810-812

E6 Nelson Textbook of Pediatrics(2024) — Volume 2 pp. 193-195, 879-881