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.

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This study is supported by a grant from the Novo Nordisk Foundation (http://www.novonordiskfonden.dk/en).
doi.org/10.1159/000484398, hdl.handle.net/1765/103425
Sexual Development

Gravholt, C.H. (Claus H.), Dollerup, O.L. (Ole L.), Duval, L. (Lone), Mejlgaard, E. (Else), Stribolt, K. (Katrine), Vang, S. (Søren), … Stochholm, K. (2017). A Rare Case of Embryonal Carcinoma in a Patient with Turner Syndrome without Y Chromosomal Material but Mutations in KIT, AKT1, and ZNF358 Demonstrated Using Exome Sequencing. Sexual Development. doi:10.1159/000484398