KIT gene mutation and amplification in dysgerminoma of the ovary

Liang Cheng, Lawrence M. Roth, Shaobo Zhang, Mingsheng Wang, Michael J. Morton, Wenxin Zheng, Fadi W. Abdul Karim, Rodolfo Montironi, Antonio Lopez-Beltran

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

BACKGROUND: Dysgerminoma, the ovarian counterpart of seminoma, is the most common type of malignant ovarian germ cell tumor. The role of KIT mutation and amplification in the development of dysgerminoma is not currently established. The purpose of this study was to analyze alterations of the KIT gene in a large series of dysgerminomas and correlate the findings with clinicopathological parameters. METHODS: Dysgerminoma cells from 22 patients were analyzed for KIT mutations at exon 17 codon 816. KIT amplification and chromosome 12p anomalies were investigated by way of dual color fluorescence in situ hybridization. KIT protein expression was also examined by way of immunohistochemistry. RESULTS: KIT exon 17 codon 816 mutations and KIT amplification were each detected in 6 cases of dysgerminoma (27%); however, there was no correlation between these 2 factors. KIT expression was detected in 87% of dysgerminomas. The KIT mutation was associated with advanced pathological stage (P <.05), and KIT amplification was associated with elevated KIT protein expression (P <.05). Chromosome 12p anomalies were found in 82% of the dysgerminomas and did not correlate with KIT abnormalities. CONCLUSIONS: KIT mutations occur in approximately one-third of cases of dysgerminomas and are associated with advanced stage at presentation. KIT is a potential therapeutic target for those dysgerminomas that have the mutation.

Original languageEnglish (US)
Pages (from-to)2096-2103
Number of pages8
JournalCancer
Volume117
Issue number10
DOIs
StatePublished - May 15 2011

Fingerprint

Dysgerminoma
Gene Amplification
Ovary
Mutation
Codon
Exons
Chromosomes
Seminoma
Germ Cell and Embryonal Neoplasms
Fluorescence In Situ Hybridization
Proteins
Color
Immunohistochemistry

Keywords

  • adolescent
  • biomarker
  • c-kit
  • CD117
  • dysgerminoma
  • gene amplification
  • germ cell tumors
  • histogenesis
  • neoplasia
  • ovary

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

Cheng, L., Roth, L. M., Zhang, S., Wang, M., Morton, M. J., Zheng, W., ... Lopez-Beltran, A. (2011). KIT gene mutation and amplification in dysgerminoma of the ovary. Cancer, 117(10), 2096-2103. https://doi.org/10.1002/cncr.25794

KIT gene mutation and amplification in dysgerminoma of the ovary. / Cheng, Liang; Roth, Lawrence M.; Zhang, Shaobo; Wang, Mingsheng; Morton, Michael J.; Zheng, Wenxin; Abdul Karim, Fadi W.; Montironi, Rodolfo; Lopez-Beltran, Antonio.

In: Cancer, Vol. 117, No. 10, 15.05.2011, p. 2096-2103.

Research output: Contribution to journalArticle

Cheng, L, Roth, LM, Zhang, S, Wang, M, Morton, MJ, Zheng, W, Abdul Karim, FW, Montironi, R & Lopez-Beltran, A 2011, 'KIT gene mutation and amplification in dysgerminoma of the ovary', Cancer, vol. 117, no. 10, pp. 2096-2103. https://doi.org/10.1002/cncr.25794
Cheng L, Roth LM, Zhang S, Wang M, Morton MJ, Zheng W et al. KIT gene mutation and amplification in dysgerminoma of the ovary. Cancer. 2011 May 15;117(10):2096-2103. https://doi.org/10.1002/cncr.25794
Cheng, Liang ; Roth, Lawrence M. ; Zhang, Shaobo ; Wang, Mingsheng ; Morton, Michael J. ; Zheng, Wenxin ; Abdul Karim, Fadi W. ; Montironi, Rodolfo ; Lopez-Beltran, Antonio. / KIT gene mutation and amplification in dysgerminoma of the ovary. In: Cancer. 2011 ; Vol. 117, No. 10. pp. 2096-2103.
@article{1d2728b43b82495a9d5d81012a0a26ab,
title = "KIT gene mutation and amplification in dysgerminoma of the ovary",
abstract = "BACKGROUND: Dysgerminoma, the ovarian counterpart of seminoma, is the most common type of malignant ovarian germ cell tumor. The role of KIT mutation and amplification in the development of dysgerminoma is not currently established. The purpose of this study was to analyze alterations of the KIT gene in a large series of dysgerminomas and correlate the findings with clinicopathological parameters. METHODS: Dysgerminoma cells from 22 patients were analyzed for KIT mutations at exon 17 codon 816. KIT amplification and chromosome 12p anomalies were investigated by way of dual color fluorescence in situ hybridization. KIT protein expression was also examined by way of immunohistochemistry. RESULTS: KIT exon 17 codon 816 mutations and KIT amplification were each detected in 6 cases of dysgerminoma (27{\%}); however, there was no correlation between these 2 factors. KIT expression was detected in 87{\%} of dysgerminomas. The KIT mutation was associated with advanced pathological stage (P <.05), and KIT amplification was associated with elevated KIT protein expression (P <.05). Chromosome 12p anomalies were found in 82{\%} of the dysgerminomas and did not correlate with KIT abnormalities. CONCLUSIONS: KIT mutations occur in approximately one-third of cases of dysgerminomas and are associated with advanced stage at presentation. KIT is a potential therapeutic target for those dysgerminomas that have the mutation.",
keywords = "adolescent, biomarker, c-kit, CD117, dysgerminoma, gene amplification, germ cell tumors, histogenesis, neoplasia, ovary",
author = "Liang Cheng and Roth, {Lawrence M.} and Shaobo Zhang and Mingsheng Wang and Morton, {Michael J.} and Wenxin Zheng and {Abdul Karim}, {Fadi W.} and Rodolfo Montironi and Antonio Lopez-Beltran",
year = "2011",
month = "5",
day = "15",
doi = "10.1002/cncr.25794",
language = "English (US)",
volume = "117",
pages = "2096--2103",
journal = "Cancer",
issn = "0008-543X",
publisher = "John Wiley and Sons Inc.",
number = "10",

}

TY - JOUR

T1 - KIT gene mutation and amplification in dysgerminoma of the ovary

AU - Cheng, Liang

AU - Roth, Lawrence M.

AU - Zhang, Shaobo

AU - Wang, Mingsheng

AU - Morton, Michael J.

AU - Zheng, Wenxin

AU - Abdul Karim, Fadi W.

AU - Montironi, Rodolfo

AU - Lopez-Beltran, Antonio

PY - 2011/5/15

Y1 - 2011/5/15

N2 - BACKGROUND: Dysgerminoma, the ovarian counterpart of seminoma, is the most common type of malignant ovarian germ cell tumor. The role of KIT mutation and amplification in the development of dysgerminoma is not currently established. The purpose of this study was to analyze alterations of the KIT gene in a large series of dysgerminomas and correlate the findings with clinicopathological parameters. METHODS: Dysgerminoma cells from 22 patients were analyzed for KIT mutations at exon 17 codon 816. KIT amplification and chromosome 12p anomalies were investigated by way of dual color fluorescence in situ hybridization. KIT protein expression was also examined by way of immunohistochemistry. RESULTS: KIT exon 17 codon 816 mutations and KIT amplification were each detected in 6 cases of dysgerminoma (27%); however, there was no correlation between these 2 factors. KIT expression was detected in 87% of dysgerminomas. The KIT mutation was associated with advanced pathological stage (P <.05), and KIT amplification was associated with elevated KIT protein expression (P <.05). Chromosome 12p anomalies were found in 82% of the dysgerminomas and did not correlate with KIT abnormalities. CONCLUSIONS: KIT mutations occur in approximately one-third of cases of dysgerminomas and are associated with advanced stage at presentation. KIT is a potential therapeutic target for those dysgerminomas that have the mutation.

AB - BACKGROUND: Dysgerminoma, the ovarian counterpart of seminoma, is the most common type of malignant ovarian germ cell tumor. The role of KIT mutation and amplification in the development of dysgerminoma is not currently established. The purpose of this study was to analyze alterations of the KIT gene in a large series of dysgerminomas and correlate the findings with clinicopathological parameters. METHODS: Dysgerminoma cells from 22 patients were analyzed for KIT mutations at exon 17 codon 816. KIT amplification and chromosome 12p anomalies were investigated by way of dual color fluorescence in situ hybridization. KIT protein expression was also examined by way of immunohistochemistry. RESULTS: KIT exon 17 codon 816 mutations and KIT amplification were each detected in 6 cases of dysgerminoma (27%); however, there was no correlation between these 2 factors. KIT expression was detected in 87% of dysgerminomas. The KIT mutation was associated with advanced pathological stage (P <.05), and KIT amplification was associated with elevated KIT protein expression (P <.05). Chromosome 12p anomalies were found in 82% of the dysgerminomas and did not correlate with KIT abnormalities. CONCLUSIONS: KIT mutations occur in approximately one-third of cases of dysgerminomas and are associated with advanced stage at presentation. KIT is a potential therapeutic target for those dysgerminomas that have the mutation.

KW - adolescent

KW - biomarker

KW - c-kit

KW - CD117

KW - dysgerminoma

KW - gene amplification

KW - germ cell tumors

KW - histogenesis

KW - neoplasia

KW - ovary

UR - http://www.scopus.com/inward/record.url?scp=79954548647&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79954548647&partnerID=8YFLogxK

U2 - 10.1002/cncr.25794

DO - 10.1002/cncr.25794

M3 - Article

C2 - 21523721

AN - SCOPUS:79954548647

VL - 117

SP - 2096

EP - 2103

JO - Cancer

JF - Cancer

SN - 0008-543X

IS - 10

ER -