PuSH - Publication Server of Helmholtz Zentrum München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
Langer, R.* ; Becker, K.* ; Feith, M.* ; Friess, H.* ; Höfler, H. ; Keller, G.*

Genetic aberrations in primary esophageal melanomas: Molecular analysis of c-KIT, PDGFR, KRAS, NRAS and BRAF in a series of 10 cases.

Mod. Pathol. 24, 495-501 (2011)
Publ. Version/Full Text DOI PMC
Closed
Open Access Green as soon as Postprint is submitted to ZB.
We present a series of 10 primary esophageal melanomas of Caucasian patients characterized clinicopathologically and on the molecular level. Mutation analysis for c-Kit (exons 9, 11, 13 and 17), PDGFR (exons 12, 14 and 18), NRAS and KRAS were determined using PCR and direct sequencing. Analysis of the V600E mutation of BRAF was performed using mutation-specific PCR. Expression of c-Kit and PDGFR-A was additionally determined using immunohistochemistry. One tumor harbored a missense mutation in the c-Kit (p.F504L) and in the KRAS gene (p.G12S). A different c-Kit mutation (c.1507_1508 ins TTGCCT) was detected in another case. A third case had a V600E BRAF mutation. Using immunohistochemistry, c-Kit expression could be detected in all cases. The two cases with c-Kit mutations showed high c-Kit expression. None of the tumors showed a PDGFR mutation or expression or a NRAS mutation. We conclude that molecular analysis can identify targets for a specific therapy such as tyrosin kinase inhibitors as additional treatment option in these highly malignant tumors.
Impact Factor
Scopus SNIP
Web of Science
Times Cited
Scopus
Cited By
Altmetric
4.176
1.676
12
24
Tags
Annotations
Special Publikation
Hide on homepage

Edit extra information
Edit own tags
Private
Edit own annotation
Private
Hide on publication lists
on hompage
Mark as special
publikation
Publication type Article: Journal article
Document type Scientific Article
Keywords BRAF; c-KIT; esophagus; genetics; KRAS; melanoma
Language english
Publication Year 2011
HGF-reported in Year 2011
ISSN (print) / ISBN 0893-3952
e-ISSN 1530-0285
Journal Modern Pathology
Quellenangaben Volume: 24, Issue: 4, Pages: 495-501 Article Number: , Supplement: ,
Publisher United States and Canadian Academy of Pathology ; Nature Publishing Group
Reviewing status Peer reviewed
Institute(s) Institute of Pathology (PATH)
POF-Topic(s) 30504 - Mechanisms of Genetic and Environmental Influences on Health and Disease
Research field(s) Enabling and Novel Technologies
PSP Element(s) G-500300-001
PubMed ID 21131919
DOI 10.1038/modpathol.2010.220
Scopus ID 79953300069
Erfassungsdatum 2011-09-06
[➜Report correction]