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.
Sex Dev
; 11(5-6): 262-268, 2017.
Article
in En
| MEDLINE
| ID: mdl-29197878
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Turner Syndrome
/
Carcinoma, Embryonal
/
Chromosomes, Human, Y
/
Exome
Type of study:
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Sex Dev
Journal subject:
CIENCIAS DO COMPORTAMENTO
Year:
2017
Document type:
Article
Affiliation country:
Dinamarca