TY - JOUR
T1 - 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
AU - Gravholt, Claus H
AU - Dollerup, Ole L
AU - Duval, Lone
AU - Mejlgaard, Else
AU - Stribolt, Katrine
AU - Vang, Søren
AU - Laursen, Britt E
AU - Knudsen, Michael
AU - Thorsen, Kasper
AU - Hersmus, Remko
AU - Looijenga, Leendert H J
AU - Stochholm, Kirstine
N1 - © 2017 S. Karger AG, Basel.
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - Adult
KW - Carcinoma, Embryonal/genetics
KW - Chorionic Gonadotropin/genetics
KW - Chromosomes, Human, Y/genetics
KW - Exome/genetics
KW - Female
KW - Humans
KW - Karyotyping
KW - L-Lactate Dehydrogenase/genetics
KW - Mutation/genetics
KW - Proto-Oncogene Proteins c-akt/genetics
KW - Proto-Oncogene Proteins c-kit/genetics
KW - Turner Syndrome/genetics
U2 - 10.1159/000484398
DO - 10.1159/000484398
M3 - Article
C2 - 29197878
SN - 1661-5425
VL - 11
SP - 262
EP - 268
JO - Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
JF - Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
IS - 5-6
ER -