✦ LIBER ✦

Absence of V599E BRAF mutations in desmoplastic melanomas

✍ Scribed by Jon M. Davison; Eli Rosenbaum; Terry L. Barrett; David Goldenberg; Mohammad O. Hoque; David Sidransky; William H. Westra

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 182 KB
Volume: 103
Category: Article
ISSN: 0008-543X
DOI: 10.1002/cncr.20861

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

BACKGROUND

Desmoplastic melanoma is an uncommon variant of cutaneous melanoma that mimics soft tissue sarcoma both clinically and morphologically. An activating point mutation of the BRAF oncogene has been identified in a high proportion of conventional cutaneous melanomas, but its frequency in the desmoplastic subtype is not known.

METHODS

The authors tested 12 desmoplastic melanoma specimens for the thymine (T)→adenine (A) missense mutation at nucleotide 1796 of the BRAF gene using a newly developed assay that employs a novel primer extension method. They also tested 57 vertical growth phase cutaneous nondesmoplastic melanoma specimens.

RESULTS

The 1796 T→A mutation was detected in 23 of the 57 conventional cutaneous melanoma specimens but in none of the 12 desmoplastic melanoma specimens (40% vs. 0%; P = 0.0006, Fisher exact 2‐tailed test).

CONCLUSIONS

The relative importance of BRAF mutational activation in melanocytic tumorigenesis clearly was not the same across the various subtypes of melanoma, even for melanomas of cutaneous origin that are associated with sun exposure. In contrast to conventional cutaneous melanomas, the desmoplastic variant frequently did not harbor an activating mutation of BRAF. Accordingly, patients with melanomas should not be collectively regarded as a uniform group as new therapeutic strategies are developed that target specific genetic alterations. Cancer 2005. © 2005 American Cancer Society.

📜 SIMILAR VOLUMES

Absence of exon 15 BRAF germline mutatio

Absence of exon 15 BRAF germline mutations in familial melanoma

✍ Julie Lang; Maureen Boxer; Rona MacKie 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 169 KB 👁 1 views

We have analyzed DNA from peripheral blood of 42 cases of familial melanoma for germline mutations in exon 15 of the BRAF gene. No evidence of mutation was found. We have also analyzed DNA extracted from secondary melanoma from two members of these families. These results were also negative. In addi

Effective inhibition of cell growth and

Effective inhibition of cell growth and invasion of melanoma by combined suppression of BRAF (V599E) and Skp2 with lentiviral RNAi

✍ Hidetoshi Sumimoto; Kenro Hirata; Shizuko Yamagata; Hiroyuki Miyoshi; Makoto Miy 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 French ⚖ 232 KB

p27 Kip1 that regulates the G1/S transition of cell cycle and inhibits Rho A signaling is frequently lost in several cancers leading to the deregulation of cell growth and cell motility. Mitogen-activated protein kinases (MAPK) regulate the export of p27 Kip1 from nucleus to cytoplasm, followed by t

Distinct patterns of DNA copy number alt

Distinct patterns of DNA copy number alterations associate with BRAF mutations in melanomas and melanoma-derived cell lines

✍ J. Greshock; K. Nathanson; A. Medina; M. R. Ward; M. Herlyn; B. L. Weber; T. Z. 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 301 KB 👁 1 views

## Abstract A majority of malignant melanomas harbor an oncogenic mutation in either __BRAF__ or __NRAS__. If __BRAF__ and __NRAS__ transform melanoma cells by a similar mechanism, then additional genetic aberrations would be similar (or random). Alternatively, distinct mutation‐associated changes

Overexpression and mutations of p53 in m

Overexpression and mutations of p53 in metastatic malignant melanomas

✍ Arndt Hartmann; Hagen Blaszyk; Julie S. Cunningham; Renee M. McGovern; Jennifer 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 French ⚖ 495 KB 👁 3 views

Alterations of the p53 tumor suppressor gene are the most frequent genetic abnormalities in human malignancies, but the role of p53 in the etiology of malignant melanomas is unclear. Fifty unselected malignant melanomas were analyzed for p53 overexpression by immunohistochemistry using 3 monoclonal

Frequency of KRAS, BRAF, and NRAS mutati

Frequency of KRAS, BRAF, and NRAS mutations in colorectal cancer

✍ Cecily P. Vaughn; Scott D. ZoBell; Larissa V. Furtado; Christine L. Baker; Wade 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB 👁 1 views

## Abstract Mutational analysis of __KRAS__ codons 12 and 13 is standard for patients with metastatic colorectal cancer since mutations in these codons predict lack of response to anti‐EGFR therapies. However, even among patients whose tumors are wildtype for __KRAS__ codons 12 and 13, only a subse

Low frequency of BRAF and CDKN2A mutatio

Low frequency of BRAF and CDKN2A mutations in endometrial cancer

✍ Helga B. Salvesen; Rajiv Kumar; Ingunn Stefansson; Sabrina Angelini; Nicola MacD 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 French ⚖ 196 KB 👁 1 views

## Abstract Several pathways have been implicated in the pathogenesis of endometrial carcinoma. Based on recent reports, __BRAF__ mutations provide an alternative route for activation of the RAS signalling pathway. The __CDKN2A (p16)__ tumour suppressor gene is also altered in several tumour types.