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2015 ; 2
(2
): 65-74
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Hamartomatous Tumors in the Gastrointestinal Tract
#MMPMID26672891
Cauchin E
; Touchefeu Y
; Matysiak-Budnik T
Gastrointest Tumors
2015[Sep]; 2
(2
): 65-74
PMID26672891
show ga
BACKGROUND: Digestive hamartomatous polyps are a rare entity. They may be
sporadic (solitary Peutz-Jeghers polyp or solitary juvenile polyp) or reveal
genetic predisposition like Peutz-Jeghers syndrome, juvenile polyposis or Cowden
disease. SUMMARY: Diagnosis is based on personal and family history and on
clinical data including physical signs (in particular dermatological), endoscopic
findings (the number of polyps) and histological features of the polyps. The risk
of complications and of digestive and extra-digestive cancers may be high,
especially in case of genetic predisposition syndromes, and requires
multidisciplinary management of the patients (oncogenetic counseling,
gastroenterologist, pathologist, dermatologist, gynecologist and
endocrinologist). Endoscopic evaluation is very helpful to establish the current
situation, to perform polypectomy and to allow for good histological examination
of the polyps, whose degeneration has been exceptionally described. The recent
development of new molecular techniques (next-generation DNA sequencing) allows
for rapid multiple gene sequencing and facilitates diagnosis. KEY MESSAGE:
Discovery of a hamartomatous polyp requires a rigorous work-up which should be
performed by a multidisciplinary team, including a genetic oncologist,
experienced in this pathology. PRACTICAL IMPLICATIONS: The diagnostic procedure
in hamartomatous polyps should be based on the number of polyps identified during
endoscopy (solitary versus multiple) and on their histological characteristics.
The clinical examination must search for mucosal and skin lesions. If a polyposis
syndrome is identified, oncogenetic consultation is necessary in order to define
screening modalities for family members, aiming at preventing cancer development.
Endoscopic resection (polypectomy) of the lesions may prevent complications like
bleeding and degeneration and also diminish the risk of surgery and subsequent
short bowel syndrome.
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