Peutz-Jeghers syndrome and management recommendations

被引：310

作者：

Giardiello, FM

Trimbath, JD

机构：

[1] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21218 USA

[2] Johns Hopkins Univ, Sch Med, Ctr Oncol, Baltimore, MD 21218 USA

[3] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21218 USA

来源：

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY | 2006年 / 4卷 / 04期

关键词：

D O I：

10.1016/j.cgh.2005.11.005

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease caused by germline mutation of the serine threonine kinase 11 and characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation. Patients with PJS are at increased, risk for common and unusual types of gastrointestinal and nongastrointestinal tumors. This review analyzes currently available literature and describes the clinical characteristics of PJS, assesses the risk of malignancy in this disorder, and delineates management and surveillance recommendations for affected individuals.

引用

页码：408 / 415

页数：8

共 75 条

[21] Methylene blue-directed biopsies improve detection of intestinal metaplasia and dysplasia in Barrett's esophagus [J].

Canto, MIF ;

Setrakian, S ;

Willis, J ;

Chak, A ;

Petras, R ;

Powe, NR ;

Sivak, MV .

GASTROINTESTINAL ENDOSCOPY, 2000, 51 (05) :560-568

[22]

CHRISTIAN CD, 1964, JAMA-J AM MED ASSOC, V190, P935

[23]

Connor JT., 1895, LANCET, V2, P1169

[24]

DAYAL Y, 1989, ROBBINS PATHOLOGIC B, P827

[25] Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome [J].

Dunlop, MG .

GUT, 2002, 51 :V21-V27

[26]

DURIE P, 2002, GENETIC DISORDERS EX

[27] PEUTZ-JEGHERS SYNDROME - A CLINICOPATHOLOGIC SURVEY OF THE HARRISBURG FAMILY WITH A 49-YEAR FOLLOW-UP [J].

FOLEY, TR ;

MCGARRITY, TJ ;

ABT, AB .

GASTROENTEROLOGY, 1988, 95 (06) :1535-1540

[28] Functional analysis of Peutz-Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity [J].

Forcet, C ;

Etienne-Manneville, S ;

Gaude, H ;

Fournier, L ;

Debilly, S ;

Salmi, M ;

Baas, A ;

Olschwang, S ;

Clevers, H ;

Billaud, M .

HUMAN MOLECULAR GENETICS, 2005, 14 (10) :1283-1292

[29] Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families [J].

Ford, D ;

Easton, DF ;

Stratton, M ;

Narod, S ;

Goldgar, D ;

Devilee, P ;

Bishop, DT ;

Weber, B ;

Lenoir, G ;

Chang-Claude, J ;

Sobol, H ;

Teare, MD ;

Struewing, J ;

Arason, A ;

Scherneck, S ;

Peto, J ;

Rebbeck, TR ;

Tonin, P ;

Neuhausen, S ;

Barkardottir, R ;

Eyfjord, J ;

Lynch, H ;

Ponder, BAJ ;

Gayther, SA ;

Birch, JM ;

Lindblom, A ;

Stoppa-Lyonnet, D ;

Bignon, Y ;

Borg, A ;

Hamann, U ;

Haites, N ;

Scott, RJ ;

Maugard, CM ;

Vasen, H .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) :676-689

[30] Very high risk of cancer in familial Peutz-Jeghers syndrome [J].

Giardiello, FM ;

Brensinger, JD ;

Tersmette, AC ;

Goodman, SN ;

Petersen, GM ;

Booker, SV ;

Cruz-Correa, M ;

Offerhaus, JA .

GASTROENTEROLOGY, 2000, 119 (06) :1447-1453

← 1 2 3 4 5 6 7 8 →