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Familial gastrointestinal stromal tumor with hyperpigmentation: association with a germline mutation of the c-kit gene.

Abstract：

:We describe 2 siblings with multiple gastrointestinal stromal tumors (GISTs) and cutaneous hyperpigmentation. Both had a point mutation of the c-kit gene. The patients were sisters who had exhibited cutaneous hyperpigmentation since their late teens, but the diagnosis of multiple gastrointestinal submucosal tumors was not made until they were 41 and 45 years old. Histologic examination showed that these tumors were GISTs expressing CD34 and Kit protein. Both patients died of GISTs. Single-strand conformation polymorphism analysis showed a mutation of c-kit in tumor DNA extracted from paraffin-embedded specimens. Direct sequencing analysis showed that the point mutation occurred at codon 559 of exon 11 (Val-->Ala). The same single-point mutation was detected in DNA extracted from peripheral leukocytes obtained from the younger sister and her 2 children (who had similar general hyperpigmentation) as well as in DNA from a skin biopsy specimen taken from the older sister. The germline mutation at codon 559 of the c-kit gene found in the present familial GISTs differed from that in a previously reported case of familial GISTs. We propose that GISTs caused by a germline mutation of the c-kit gene should be referred to as GIST-cutaneous hyperpigmentation disease.

journal_name

Gastroenterology

journal_title

Gastroenterology

authors

Maeyama H,Hidaka E,Ota H,Minami S,Kajiyama M,Kuraishi A,Mori H,Matsuda Y,Wada S,Sodeyama H,Nakata S,Kawamura N,Hata S,Watanabe M,Iijima Y,Katsuyama T

doi

10.1053/gast.2001.20880

keywords:

subject

Has Abstract

pub_date

2001-01-01 00:00:00

pages

210-5

issue

1

eissn

0016-5085

issn

1528-0012

pii

S0016508501958226

journal_volume

120

pub_type

杂志文章

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