Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit
Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit
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DOI：
10.1002/ajmg.a.37517
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发表时间：
2016-04-01
影响因子：
2
通讯作者：
Saito, Kayoko
中科院分区：
文献类型：
--
作者：
Akizawa, Yoshika;Miyashita, Toshiyuki;Saito, Kayoko
我们描述了一个Gorlin综合征（GS）的情况下，有两个不同的第二次击中突变PTCH 1，一个在角化囊性牙源性肿瘤（KCOT）和其他卵巢平滑肌瘤。GS是一种罕见的遗传性疾病，表现为多发性基底细胞痣，伴有其他特征，如髓母细胞瘤、骨骼异常和卵巢纤维瘤。一名21岁的日本女性，有两次KCOT病史，根据临床标准诊断为GS。外周血中检测到PTCH 1突变，c.1427del T。在上颌KCOT中发现了一个新的PTCH 1突变，c.264_265insAATA，作为第二次命中突变。最近，在妇科检查中发现了卵巢肿瘤。行腹腔镜附件切除术，病理诊断卵巢肿瘤为平滑肌瘤。有趣的是，另一种新的突变，从9q22.32到9q31.2的杂合性丢失，包括PTCH 1和89个其他基因，在这个卵巢肿瘤中被检测到，提供了第二次命中突变的证据。这是第一份报告描述了GS相关的卵巢肿瘤携带第二次击中PTCH 1区域。我们预计，积累更多的情况下，将澄清的重要性，第二次击中突变的卵巢肿瘤形成的GS。(c)2016 Wiley Periodicals，Inc.
We describe a Gorlin syndrome (GS) case with two different second hit mutations of PTCH1, one in a keratocystic odontogenic tumor (KCOT) and the other in an ovarian leiomyoma. GS is a rare genetic condition manifesting as multiple basal cell nevi associated with other features such as medulloblastomas, skeletal abnormalities, and ovarian fibromas. A 21-year-old Japanese woman with a history of two KCOTs was diagnosed with GS according to clinical criteria. A PTCH1 mutation, c.1427del T, was detected in peripheral blood. A novel PTCH1 mutation, c.264_265insAATA, had been found in the maxillary KCOT as a second hit mutation. More recently, the ovarian tumor was detected during a gynecological examination. Laparoscopic adnexectomy was performed, and the pathological diagnosis of the ovarian tumor was leiomyoma. Interestingly, another novel mutation, loss of heterozygosity spanning from 9q22.32 to 9q31.2, including PTCH1 and 89 other genes, was detected in this ovarian tumor, providing evidence of a second hit mutation. This is the first report describing a GS-associated ovarian tumor carrying a second hit in the PTCH1 region. We anticipate that accumulation of more cases will clarify the importance of second hit mutations in ovarian tumor formation in GS. (c) 2016 Wiley Periodicals, Inc.