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Ovarian microcystic stromal tumor: A novel extracolonic tumor in familial adenomatous polyposis
Author(s) -
Lee Sang Hun,
Koh Young Wha,
Roh Hyun Jin,
Cha Hee Jeong,
Kwon YongSoon
Publication year - 2015
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22233
Subject(s) - familial adenomatous polyposis , exon , adenomatous polyposis coli , germline mutation , germline , cancer research , somatic cell , mutation , biology , immunohistochemistry , medicine , pathology , colorectal cancer , gene , genetics , cancer
Ovarian microcystic stromal tumor (MCST ) is a very rare neoplasm; hence, its nomenclature was recently designated as “Distinctive morphologic and immunohistochemical features” in 2009. Its exact origin, etiological genetic alterations, and background are not yet clearly known. Familial adenomatous polyposis (FAP) is an autosomal dominant disease that leads to development of colorectal polyps via germ‐line mutations of the APC gene on chromosome 5q21∼22. In this study, we report a 40‐year‐old female patient who had ovarian MCST and FAP. On sequencing the APC gene in ovarian MSCT, we detected a novel somatic mutation of the APC gene in exon 11, with a heterozygous deletion at nucleotide position c.1540delG (p.Ala514 Profs*9). Mutations of β‐catenin ( CTNNB1 ) and FOXL2 were not detected. Although one case demonstrating involvement of Wnt/β‐catenin in ovarian MCST associated with FAP has been presented previously, no detailed information was provided. Thus, this is the ovarian MCST with a somatic mutation of APC in a patient with FAP. © 2015 Wiley Periodicals, Inc.