Lee Sang Hun, Koh Young Wha, Roh Hyun Jin, Cha Hee Jeong, Kwon Yong-Soon
Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Ulsan University Hospital, Ulsan, Korea.
Genes Chromosomes Cancer. 2015 Jun;54(6):353-60. doi: 10.1002/gcc.22233. Epub 2015 Mar 28.
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.
卵巢微囊性间质瘤（MCST）是一种非常罕见的肿瘤；因此，其命名法在2009年被指定为“独特的形态学和免疫组化特征”。其确切起源、病因学基因改变及背景尚不清楚。家族性腺瘤性息肉病（FAP）是一种常染色体显性疾病，通过5号染色体q21∼22上APC基因的种系突变导致结肠息肉的发生。在本研究中，我们报告了一名患有卵巢MCST和FAP的40岁女性患者。在对卵巢MSCT中的APC基因进行测序时，我们在外显子11中检测到APC基因的一个新的体细胞突变，在核苷酸位置c.1540delG处有杂合缺失（p.Ala514 Profs*9）。未检测到β-连环蛋白（CTNNB1）和FOXL2的突变。尽管之前已有一例显示Wnt/β-连环蛋白参与与FAP相关的卵巢MCST的病例报道，但未提供详细信息。因此，这是一例患有FAP的患者发生APC体细胞突变的卵巢MCST。
