Cutaneous sebaceous lesions in a patient with MUTYH-associated polyposis mimicking Muir-Torre syndrome

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F16%3A10329897" target="_blank" >RIV/00216208:11140/16:10329897 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1097/DAD.0000000000000649" target="_blank" >http://dx.doi.org/10.1097/DAD.0000000000000649</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1097/DAD.0000000000000649" target="_blank" >10.1097/DAD.0000000000000649</a>

Result language

angličtina

Original language name

Cutaneous sebaceous lesions in a patient with MUTYH-associated polyposis mimicking Muir-Torre syndrome

Original language description

A 76-year-old white male with a history of adenocarcinoma of the rectosigmoideum and multiple colonic polyps removed at the age of 38 and 39 years by an abdominoperitoneal amputation and total colectomy, respectively, presented with multiple whitish and yellowish papules on the face and a verrucous lesion on the trunk. The lesions were surgically removed during the next 3 years and a total of 13 lesions were investigated histologically. The diagnoses included 11 sebaceous adenomas, 1 low-grade sebaceous carcinoma, and 1 squamous cell carcinoma. In some sebaceous lesions, squamous metaplasia, intratumoral heterogeneity, mucinous changes, and peritumoral lymphocytes as sometimes seen in sebaceous lesions in Muir- Torre syndrome were noted. Mutation analysis of the peripheral blood revealed a germline mutation c.692G.A,p.(Arg231His) in exon 9 and c.1145G.A, p.(Gly382Asp) in exon 13 of the MUTYH gene. A KRAS mutation G12C (c.34G.T, p.Gly12Cys) was detected in 1 sebaceous adenoma and a NRAS mutation Q61K (c.181C.A, p.Gln61Lys) was found in 2 other sebaceous adenomas. No germline mutations in MLH1, MSH2, MSH6 and PMS2 genes, no microsatellite instability, no aberrant methylation of MLH1 promoter, and no somatic mutations in MSH2 and MSH6 were found. An identical MUTYH germline mutation was found in the patient's daughter. Despite striking clinicopathological similarities with Muir-Torre syndrome, the molecular biologic testing confirmed the final diagnosis of MUTYH-associated polyposis

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FP - Other medical fields

OECD FORD branch

—

Project

—

Continuities

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2016

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

American Journal of Dermatopathology

ISSN

0193-1091

e-ISSN

—

Volume of the periodical

38

Issue of the periodical within the volume

12

Country of publishing house

US - UNITED STATES

Number of pages

9

Pages from-to

915-923

UT code for WoS article

000388872500011

EID of the result in the Scopus database

2-s2.0-84996844611