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

Claus H Gravholt; Ole L Dollerup; Lone Duval; Else Mejlgaard; Katrine Stribolt; Søren Vang; Britt E Laursen; Michael Knudsen; Kasper Thorsen; Remko Hersmus; Leendert H J Looijenga; Kirstine Stochholm

doi:10.1159/000484398

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

Claus H Gravholt, Ole L Dollerup, Lone Duval, Else Mejlgaard, Katrine Stribolt, Søren Vang, Britt E Laursen, Michael Knudsen, Kasper Thorsen, Remko Hersmus, Leendert H J Looijenga, Kirstine Stochholm

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

9 Citations (Scopus)

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.

Original language	English
Journal	Sexual Development
Volume	11
Issue	5-6
Pages (from-to)	262-268
Number of pages	7
ISSN	1661-5425
DOIs	https://doi.org/10.1159/000484398
Publication status	Published - 2018

Keywords

45,X
CANCER
CLINICAL-PRACTICE GUIDELINES
DIAGNOSIS
Dysgerminoma
FEATURES
FEMALE
GERM-CELL TUMORS
GONADOBLASTOMA
Germ cell neoplasia in situ
Gonadoblastoma
MALIGNANCY
MARKERS
UPDATE

Access to Document

10.1159/000484398

Cite this

Gravholt, C. H., Dollerup, O. L., Duval, L., Mejlgaard, E., Stribolt, K., Vang, S., Laursen, B. E., Knudsen, M., Thorsen, K., Hersmus, R., Looijenga, L. H. J., & Stochholm, K. (2018). 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, 11(5-6), 262-268. https://doi.org/10.1159/000484398

@article{7b3c71bc7276498eb462d3e22639b770,

title = "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",

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.",

keywords = "45,X, CANCER, CLINICAL-PRACTICE GUIDELINES, DIAGNOSIS, Dysgerminoma, FEATURES, FEMALE, GERM-CELL TUMORS, GONADOBLASTOMA, Germ cell neoplasia in situ, Gonadoblastoma, MALIGNANCY, MARKERS, UPDATE",

author = "Gravholt, {Claus H} and Dollerup, {Ole L} and Lone Duval and Else Mejlgaard and Katrine Stribolt and S{\o}ren Vang and Laursen, {Britt E} and Michael Knudsen and Kasper Thorsen and Remko Hersmus and Looijenga, {Leendert H J} and Kirstine Stochholm",

note = "{\textcopyright} 2017 S. Karger AG, Basel.",

year = "2018",

doi = "10.1159/000484398",

language = "English",

volume = "11",

pages = "262--268",

journal = "Sexual Development",

issn = "1661-5425",

publisher = "S. Karger AG",

number = "5-6",

}

Gravholt, CH, Dollerup, OL, Duval, L, Mejlgaard, E, Stribolt, K, Vang, S , Laursen, BE , Knudsen, M , Thorsen, K, Hersmus, R, Looijenga, LHJ & Stochholm, K 2018, '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, vol. 11, no. 5-6, pp. 262-268. https://doi.org/10.1159/000484398

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. / Gravholt, Claus H; Dollerup, Ole L; Duval, Lone et al.
In: Sexual Development, Vol. 11, No. 5-6, 2018, p. 262-268.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

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

PY - 2018

Y1 - 2018

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 - 45,X

KW - CANCER

KW - CLINICAL-PRACTICE GUIDELINES

KW - DIAGNOSIS

KW - Dysgerminoma

KW - FEATURES

KW - FEMALE

KW - GERM-CELL TUMORS

KW - GONADOBLASTOMA

KW - Germ cell neoplasia in situ

KW - Gonadoblastoma

KW - MALIGNANCY

KW - MARKERS

KW - UPDATE

UR - http://www.scopus.com/inward/record.url?scp=85037372676&partnerID=8YFLogxK

U2 - 10.1159/000484398

DO - 10.1159/000484398

M3 - Journal article

C2 - 29197878

SN - 1661-5425

VL - 11

SP - 262

EP - 268

JO - Sexual Development

JF - Sexual Development

IS - 5-6

ER -

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

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this