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Titolo:
Hamartomatous polyposis syndromes: Molecular genetics, neoplastic risk, and surveillance recommendations
Autore:
Wirtzfeld, DA; Petrelli, NJ; Rodriguez-Bigas, MA;
Indirizzi:
SUNY Coll Buffalo, Roswell Pk Canc Inst, Div Surg Oncol, Buffalo, NY 14263USA SUNY Coll Buffalo Buffalo NY USA 14263 v Surg Oncol, Buffalo, NY 14263USA
Titolo Testata:
ANNALS OF SURGICAL ONCOLOGY
fascicolo: 4, volume: 8, anno: 2001,
pagine: 319 - 327
SICI:
1068-9265(200105)8:4<319:HPSMGN>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
PEUTZ-JEGHERS-SYNDROME; RILEY-RUVALCABA-SYNDROME; GERM-LINE MUTATIONS; JUVENILE POLYPOSIS; COWDEN-DISEASE; GASTROINTESTINAL POLYPOSIS; CANCER; PTEN; LOCALIZATION; BREAST;
Keywords:
hamartomatous polyposis syndromes; molecular genetics; surveillance;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
45
Recensione:
Indirizzi per estratti:
Indirizzo: Rodriguez-Bigas, MA SUNY Coll Buffalo, Roswell Pk Canc Inst, Div Surg Oncol, Elm & Carlton St,Buffalo, NY 14263 USA SUNY Coll Buffalo Elm & Carlton St Buffalo NY USA 14263
Citazione:
D.A. Wirtzfeld et al., "Hamartomatous polyposis syndromes: Molecular genetics, neoplastic risk, and surveillance recommendations", ANN SURG O, 8(4), 2001, pp. 319-327

Abstract

Hamartomatous polyposis syndromes are characterized by an overgrowth of cells or tissues native to the area in which they normally occur. Juvenile polyposis syndrome (JPS) results from germ-line mutations in the SMAD-4 gene (18q21.1) that encodes for an enzyme involved in transforming growth factorbeta(TGF-P) signal transduction. The increased neoplastic risk may result from SMAD-4 mutations in the stromal component, which stimulate epithelial dysplasia and progression to invasive malignancy. Peutz-Jeghers syndrome (PJS) is associated with germ-line mutations in the LKB1 gene (19p13.3) that encodes a multifunctional serine-threonine kinase. These mutations occur inthe epithelial component, suggesting a direct tumor suppressor effect. Patients are at an increased risk of intestinal and extraintestinal malignancies, including breast, pancreatic, ovarian, testicular, and cervical cancer. Cowden's disease is associated with germ-line mutations in the PTEN gene (10q22-23) and an increased risk of breast and thyroid malignancies. Ruvalcaba-Myhre-Smith syndrome is less common; controversy suggests that it may represent a variant of Cowden's disease. Conclusions: Genetic alterations underlying hamartomatous polyposis syndromes are diverse. Carcinogenesis may result from either germ-line mutations in the stroma (JPS) or as a direct result of functional deletion of tumor suppressor genes (PJS). Diagnosis depends on clinical presentation and patterns of inheritance within families. Suggested surveillance guidelines for the proband and first-degree relativesare outlined.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 15:14:49