QuizMe 29

Genetic Cancer Syndrome (II)

30 yr old lady with a sex cord stromal tumor with annular tubules. Her past medical history is positive for colonic polyps diagnosed through evaluation for anemia. On examination, she is noted to have multiple dark freckles on her lips and buccal mucosa

  • BRCA 1 or 2 gene mutation
  • Lynch syndrome
  • Peutz-Jehgers syndrome
  • Cowden syndrome
  • Li-Fraumeni syndrome

Peutz-Jehgers syndrome

Peutz-Jehgers Syndrome (PJS) is an autosomal dominant, hereditary cancer syndrome, characterized by gastrointestinal polyposis, mucocutaneous pigmentation, and predisposition to cancer. Variants in STK11, a tumor suppressor gene, predispose to PJS.

 

Peutz-Jehgers-type polyps are hamartomatous rather than pre-malignant, and most commonly found within the small intestine. Muco-cutaneous hyperpigmentation presents as dark blue to dark brown macules around the mouth, nostrils, eyes, in the perineal area and on the buccal mucosa.

PJS poses an increased risk for a wide variety of epithelial malignancies, the most common of which is colorectal. It is also associated with an increased incidence in breast, various gastrointestinal, and gynecologic tumors. Women with PJS are at a higher predisposition to develop sex cord stromal tumours with annular tubules (SCTAT), a benign tumor of the ovary, and adenoma malignum of the cervix.

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