Hamartoma screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]

Overview

Screening for sporadic hamartoma is not recommended. However, according to the American College of Gastroenterology (ACG), screening for multiple hamartomas by genetic evaluation is recommended among patients with hamartomatous polyposis syndromes such as juvenile polyposis syndrome, Peutz-Jeghers syndrome, and Cowden syndrome.

Screening

Screening of hamartomatous polyposis syndromes should include:[1][2]

  • Genetic evaluation
  • Annual thyroid ultrasound
  • Skin check with physical examination
  • Monthly breast self-examination: annual breast and endometrial screening (mammogram, transvaginal ultrasound, biopsy, and MRI may also be incorporated)[1]
  • Colonoscopy
  • Renal imaging

References

  1. 1.0 1.1 Eng C (2000). "Will the real Cowden syndrome please stand up: revised diagnostic criteria". J. Med. Genet. 37 (11): 828–30. PMC 1734465. PMID 11073535.
  2. Brown K, Mund DF, Aberle DR, Batra P, Young DA (1994). "Intrathoracic calcifications: radiographic features and differential diagnoses". Radiographics. 14 (6): 1247–61. doi:10.1148/radiographics.14.6.7855339. PMID 7855339.


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