Gravholt Claus H, Dollerup Ole L, Duval Lone, Mejlgaard Else, Stribolt Katrine, Vang Søren, Laursen Britt E, Knudsen Michael, Thorsen Kasper, Hersmus Remko, Looijenga Leendert H J, Stochholm Kirstine
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
Sex Dev. 2017;11(5-6):262-268. doi: 10.1159/000484398. Epub 2017 Dec 2.
Gonadoblastoma and malignant transformations thereof can occur in females with Turner syndrome (TS) and Y chromosomal material. However, in females with TS and no Y chromosomal material, this is rarely seen. We report a female with an apparent 45,X karyotype (in blood and tumor) who was diagnosed with a metastatic embryonal carcinoma. Exome sequencing of blood and the tumor was done, and no Y chromosomal material was detected, while predicted deleterious mutations in KIT (likely driver), AKT1, and ZNF358 were identified in the tumor. The patient was treated with chemotherapy (first-line: cisplatin, etoposide, and bleomycin; second-line: paclitaxel and gemcitabine), and after that surgical debulking was performed. She is currently well and without signs of relapse. We conclude that embryonal carcinoma can apparently occur in 45,X TS without signs of Y chromosomal material.
性腺母细胞瘤及其恶性转化可发生于患有特纳综合征（TS）且有Y染色体物质的女性中。然而，在没有Y染色体物质的TS女性中，这种情况很少见。我们报告了一名核型明显为45,X（血液和肿瘤中）的女性，她被诊断为转移性胚胎癌。对血液和肿瘤进行了外显子组测序，未检测到Y染色体物质，而在肿瘤中鉴定出了KIT（可能是驱动基因）、AKT1和ZNF358的预测有害突变。该患者接受了化疗（一线：顺铂、依托泊苷和博来霉素；二线：紫杉醇和吉西他滨），之后进行了肿瘤减积手术。她目前情况良好，没有复发迹象。我们得出结论，胚胎癌显然可以在没有Y染色体物质迹象的45,X TS患者中发生。
