Article
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 : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2017
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
Abstract excerpt
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...
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