KIT/PDGFRA Expression and Mutation in Testicular Seminoma and Ovarian Dysgerminoma
최송이, 서광선, 박미자, 김용범, 이현정, 김은선,
소속 상세정보
최송이 ( Choi Song-Yi )
충남대학교 의과대학 병리학교실
서광선 ( Suh Kwang-Sun )
충남대학교 의과대학 병리학교실
박미자 ( Park Mee-Ja )
을지대학교 의과대학 병리학교실
김용범 ( Kim Yong-Bum )
충남대학교 의과대학 병리학교실
이현정 ( Lee Hyun-Jeong )
충남대학교 의과대학 병리학교실
김은선 ( Kim Eun-Sun )
충남대학교 의과대학 병리학교실
KMID : 0357920090430060528
Abstract
Background: KIT and PDGFRA are tyrosine kinase receptors. Stem cell factor/KIT-mediated signaling plays a role in normal spermatogenesis, and the alteration of KIT is important in the pathogenesis of seminomas/dysgerminomas (SD).
Methods: To determine the role of expression and mutation of the KIT and PDGFRA genes, we analyzed 16 seminoma cases, 4 spermatocytic seminoma (SS) cases and 8 dysgerminoma cases for KIT and PDGFRA expression and mutation of KIT (exons 9, 11, 13, and 17) and PDGFRA (exons 12 and 18) using PCR-SSCP methods.
Results: KIT was immunohistochemically positive in all 24 SD cases, and one of four (25%) SS cases. PDGFRA was immunohistochemically evident in 16 of the 24 (66.6%) SD cases, and two of the four (50%) SS cases. KIT expression was significantly reduced in SS compared with seminoma (p=0.0035). Four cases (14.3%) displayed mutation in KIT exon 17 or PDGFRA exon 12. Distant metastasis was present in three cases (10.7%), one of which had a nonsense mutation in KIT.
Conclusions: These results indicate that KIT is expressed in the majority of SD cases, but not in most SS cases. However, there was no significant correlation between the clinicopathologic features and mutation or expression of KIT and PDGFRA.
키워드
Seminoma;Dysgerminoma;Proto-oncogene proteins c-kit;Receptor;platelet-derived growth factor alpha;Mutation
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