MutYH-associated polyposis

被引：3

作者：

Toboeva, M. Kh ^{[1
,2
]}

Shelygin, Yu A. ^{[1
,2
]}

Frolov, S. A. ^{[2
]}

Kuzminov, M. A. ^{[2
]}

Tsukanov, A. S. ^{[2
]}

机构：

[1] Minist Hlth Russian Federat, Russian Med Acad Continuing Profess Educ, Moscow, Russia

[2] Minist Hlth Russian Federat, AN Ryzhikh State Sci Ctr Coloproctol, Moscow, Russia

来源：

TERAPEVTICHESKII ARKHIV | 2019年 / 91卷 / 02期

关键词：

MutYH-associated polyposis; familial adenomatous polyposis; biallelic mutation; monoallelic mutation; colectomy; FAMILIAL ADENOMATOUS POLYPOSIS; POUCH-ANAL ANASTOMOSIS; COLORECTAL-CANCER; ILEAL POUCH; RESTORATIVE PROCTOCOLECTOMY; MUTATIONS; MYH; MANAGEMENT; CARRIERS; SURGERY;

D O I：

10.26442/00403660.2019.02.000124

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

MutYH-associated polyposis is the only polyposis syndrome with an autosomal recessive type of inheritance, often phenotypically similar to a weakened form of familial adenomatous polyposis. For the development of the disease mutations in both alleles of the gene are required, but an increased risk of developing colorectal cancer in carriers of monoallelic mutations is noted. The diagnosis of MutYH-associated polyposis should be suspected in a patient with colorectal cancer over 45 years old on the background of polyps in the colon. The review presents modern algorithms for diagnostic and treatment of the disease.

引用

页码：97 / 100

页数：4

共 37 条

[1] Outcome after ileal pouch-anal anastomosis for familial adenomatous polyposis compared to mucosal ulcerative colitis in a Middle Eastern population [J].

Al-Sanea, Nasser ;

Alfaifi, Jaber ;

Al Homoud, Samar ;

Abduljabbar, Alaa ;

Hibbert, Denise ;

Ashari, Luai .

ANNALS OF SAUDI MEDICINE, 2013, 33 (03) :268-272

[2] Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors [J].

Al-Tassan, N ;

Chmiel, NH ;

Maynard, J ;

Fleming, N ;

Livingston, AL ;

Williams, GT ;

Hodges, AK ;

Davies, DR ;

David, SS ;

Sampson, JR ;

Cheadle, JR .

NATURE GENETICS, 2002, 30 (02) :227-232

[3]

[Anonymous], 2014, NCCN Clinical Practice Guidelines in Oncology Ovarian Cancer version 1.2014

[4] Identification of MYH mutation carriers in colorectal cancer:: A multicenter, case-control, population-based study [J].

Balaguer, Francesc ;

Castellvi-Bel, Sergi ;

Castells, Antoni ;

Andreu, Montserrat ;

Munoz, Jenifer ;

Gisbert, Javier P. ;

Llor, Xavier ;

Jover, Rodrigo ;

De Cid, Rafael ;

Gonzalo, Victoria ;

Bessa, Xavier ;

Xicola, Rosa M. ;

Pons, Elisenda ;

Alenda, Cristina ;

Paya, Artemio ;

Pique, Josep M. .

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY, 2007, 5 (03) :379-387

[5] Hyperplastic Polyps and Sessile Serrated Adenomas as a Phenotypic Expression of MYH-Associated Polyposis [J].

Boparai, Karam S. ;

Dekker, Evelien ;

van Eeden, Susanne ;

Polak, Mirjam M. ;

Bartelsman, Joep F. W. M. ;

Mathus-Vliegen, Elisbeth M. H. ;

Keller, Josbert J. ;

van Noesel, Carel J. M. .

GASTROENTEROLOGY, 2008, 135 (06) :2014-2018

[6] Prevention and management of duodenal polyps in familial adenomatous polyposis [J].

Brosens, LAA ;

Keller, JJ ;

Offerhaus, GJA ;

Goggins, M ;

Giardiello, FM .

GUT, 2005, 54 (07) :1034-1043

[7] Intraoperative abandonment of ileal pouch to anal anastomosis - The Mayo Clinic experience [J].

Browning, SM ;

Nivatvongs, S .

JOURNAL OF THE AMERICAN COLLEGE OF SURGEONS, 1998, 186 (04) :441-445

[8]

Chernyshov S. V., 2013, KOLOPROKTOLOGIYA, V44, P3

[9] Lynch Syndrome and MYH-Associated Polyposis Review and Testing Strategy [J].

Goodenberger, McKinsey ;

Lindor, Noralane M. .

JOURNAL OF CLINICAL GASTROENTEROLOGY, 2011, 45 (06) :488-500

[10] Prevalence and Characteristics of MUTYH-Associated Polyposis in Patients with Multiple Adenomatous and Serrated Polyps [J].

Guarinos, Carla ;

Juarez, Miriam ;

Egoavil, Cecilia ;

Rodriguez-Soler, Maria ;

Perez-Carbonell, Lucia ;

Salas, Ramon ;

Cubiella, Joaquin ;

Rodriguez-Moranta, Francisco ;

de-Castro, Luisa ;

Bujanda, Luis ;

Serradesanferm, Anna ;

Nicolas-Perez, David ;

Herraiz, Maite ;

Fernandez-Banares, Fernando ;

Herreros-de-Tejada, Alberto ;

Aguirre, Elena ;

Balmana, Judith ;

Rincon, Maria-Luisa ;

Pizarro, Angeles ;

Polo-Ortiz, Francisco ;

Castillejo, Adela ;

Alenda, Cristina ;

Paya, Artemio ;

Soto, Jose-Luis ;

Jover, Rodrigo .

CLINICAL CANCER RESEARCH, 2014, 20 (05) :1158-1168

← 1 2 3 4 →