Identification of the M541L sequence variation of the transmembrane KIT domain in Merkel cell carcinoma.

Abstract:

BACKGROUND:Merkel cell carcinoma (MCC) is an aggressive KIT-positive cutaneous tumor. KIT mutations are considered to play a key role in the pathogenesis of various neoplasms, but have not been found so far in MCC. The aim of the present study was therefore to investigate the presence of KIT mutations in MCC. MATERIALS AND METHODS:The entire coding region of KIT in the MCC cell line MCC-1 was sequenced. KIT exon 10 was amplified from archival paraffin-embedded MCC specimens by PCR and sequenced. RESULTS:Exon 10 M541L KIT sequence variation, which confers increased sensitivity to KIT ligand stem cell factor, was detected in the MCC-1 cell line. Sequencing of KIT exon 10 in six archival MCC specimens revealed the wild-type sequence. CONCLUSION:The presence of the M541L KIT variation in MCC warrants further studies for its role in the pathogenesis of this tumor.

journal_name

Anticancer Res

journal_title

Anticancer research

authors

Krasagakis K,Metaxari M,Zervou M,Stathopoulos EN,Eberle J,Kanitakis J,Georgoulias V,Krüger-Krasagakis S,Tavernarakis N,Tosca AD

subject

Has Abstract

pub_date

2011-03-01 00:00:00

pages

807-11

issue

3

eissn

0250-7005

issn

1791-7530

pii

31/3/807

journal_volume

31

pub_type

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