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Updated: Dec 15 2021

Peutz-Jeghers Syndrome

  • Snapshot
    • A 20-year-old woman presents with fatigue and pallor. On routine blood tests, she is found to have iron-deficiency anemia. On physical exam, she has multiple freckles around her lips and some inside her mucosa. Her primary care physician is concerned that the freckles may not actually be freckles but a lesion of something else. She is referred to a GI doctor, who schedules her for an endoscopy.
  • Introduction
    • Inherited syndrome with
      • multiple nonmalignant hamartomatous polyps in GI tract
      • mucocutaneous hyperpigmentation
    • Genetics
      • autosomal dominant
      • mutation in STK11, a tumor suppressor gene
    • Associated conditions
      • ↑ risk for multiple malignancies
        • colon cancer
        • breast
        • pancreas
        • gynecologic
  • Presentation
    • Symptoms/physical exam
      • hyperpigmented mucocutaneous macules
        • blue-gray or brown spots
        • most common spots
          • lips
          • buccal mucosa
          • soles
          • palms
      • hamartomatous polyps
        • most common in small bowel
        • may be sessile, pedunculated, or lobulated
        • bowel obstruction
          • intussusception
        • abdominal pain
          • infarction
          • chronic bleeding
    • Endoscopy with biopsy
      • Upper GI endoscopy, video capsule endoscopy, and colonoscopy beginning at 8 years of age
        • if polyps detected, repeat screening every 3 years
        • if no polyps, repeat screening at 18 years of age or sooner if symptoms arise
      • histology
        • hamartomas
        • proliferation of smooth muscle into lamina propria
    • Complete blood count
      • iron-deficiency anemia due to blood loss
    • Predictive genetic testing offered to at-risk individuals in whom diagnosis is not already clinically apparent by age 8 years, provided a pathogenic STK11 mutation has been identified in an affected family member
  • Differential Diagnosis
    • Familial adenomatous polyposis
    • Juvenile polyposis
    • Cowden syndrome
    • Diagnostic criteria using any of these
      • two or more histologically confirmed Peutz-Jeghers (PJ) polyps
      • family history + any number PJ polyps
      • family history + mucocutaneous pigments
      • any number PJ polyps + mucocutaneous pigments
  • Treatment
    • Routine evaluation with cancer screening every 1-2 years
    • Endoscopic resection of polyps
      • if extensive, surgical resection
  • Complications
    • Malignant transformation of macules are rare
    • Increased risk of extraintestinal cancers (from most to least)
      • breast
      • gonadal
      • pancreas
  • Prognosis
    • High risk of malignant transformation of polyps
    • Good with routine screening
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