PT  - JOURNAL ARTICLE
AU  - KONSTANTIN KRASAGAKIS
AU  - MARIA METAXARI
AU  - MARIA ZERVOU
AU  - EUSTATHIOS N. STATHOPOULOS
AU  - JUERGEN EBERLE
AU  - JEAN KANITAKIS
AU  - VASSILIS GEORGOULIAS
AU  - SABINE KRÜGER-KRASAGAKIS
AU  - NEKTARIOS TAVERNARAKIS
AU  - ANDRONIKI D. TOSCA
TI  - Identification of the M541L Sequence Variation of the Transmembrane KIT domain in Merkel Cell Carcinoma
DP  - 2011 Mar 01
TA  - Anticancer Research
PG  - 807--811
VI  - 31
IP  - 3
4099  - http://ar.iiarjournals.org/content/31/3/807.short
4100  - http://ar.iiarjournals.org/content/31/3/807.full
SO  - Anticancer Res2011 Mar 01; 31
AB  - 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.