A new KIT mutation (N505I) in acral melanoma confers constitutive signaling, favors tumorigenic properties, and is sensitive to imatinib

Maryline Allegra; Damien Giacchero; Coralie Segalen; Nicolas Dumaz; Catherine Butori; Véronique Hofman; Paul Hofman; Jean-Philippe Lacour; Corine Bertolotto; Philippe Bahadoran; Robert Ballotti

doi:10.1038/jid.2013.525

A new KIT mutation (N505I) in acral melanoma confers constitutive signaling, favors tumorigenic properties, and is sensitive to imatinib

J Invest Dermatol. 2014 May;134(5):1473-1476. doi: 10.1038/jid.2013.525. Epub 2013 Dec 6.

Authors

Affiliations

¹ Equipe Labellisée par la Ligue Contre le Cancer, Biology and Pathologies of Melanocytes, Equipe 1, Centre Méditerranéen de Médecine Moléculaire (C3M), INSERM U1065, Nice, France; Department of Dermatology, CHU Nice, Nice, France.
² Department of Dermatology, CHU Nice, Nice, France.
³ Equipe Labellisée par la Ligue Contre le Cancer, Biology and Pathologies of Melanocytes, Equipe 1, Centre Méditerranéen de Médecine Moléculaire (C3M), INSERM U1065, Nice, France.
⁴ INSERM U976, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
⁵ IRCAN Equipe 3, and Hospital-Integrated Tumor Biobank, INSERM U 1081, Nice, France.
⁶ UFR Médecine, Université de Nice-Sophia Antipolis, Nice, France; IRCAN Equipe 3, and Hospital-Integrated Tumor Biobank, INSERM U 1081, Nice, France.
⁷ Department of Dermatology, CHU Nice, Nice, France; UFR Médecine, Université de Nice-Sophia Antipolis, Nice, France.
⁸ Equipe Labellisée par la Ligue Contre le Cancer, Biology and Pathologies of Melanocytes, Equipe 1, Centre Méditerranéen de Médecine Moléculaire (C3M), INSERM U1065, Nice, France; UFR Médecine, Université de Nice-Sophia Antipolis, Nice, France.
⁹ Equipe Labellisée par la Ligue Contre le Cancer, Biology and Pathologies of Melanocytes, Equipe 1, Centre Méditerranéen de Médecine Moléculaire (C3M), INSERM U1065, Nice, France; Department of Dermatology, CHU Nice, Nice, France; UFR Médecine, Université de Nice-Sophia Antipolis, Nice, France; Clinical Research Centre, CHU Nice, Nice, France. Electronic address: bahadoran.p@chu-nice.fr.
¹⁰ Equipe Labellisée par la Ligue Contre le Cancer, Biology and Pathologies of Melanocytes, Equipe 1, Centre Méditerranéen de Médecine Moléculaire (C3M), INSERM U1065, Nice, France; Department of Dermatology, CHU Nice, Nice, France; UFR Médecine, Université de Nice-Sophia Antipolis, Nice, France. Electronic address: ballotti@unice.fr.

PMID: 24317392
DOI: 10.1038/jid.2013.525

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Antineoplastic Agents / therapeutic use
Benzamides / therapeutic use*
Cell Line, Tumor
Humans
Imatinib Mesylate
Melanoma / drug therapy*
Melanoma / genetics*
Melanoma / metabolism
Piperazines / therapeutic use*
Point Mutation
Proto-Oncogene Proteins c-kit / genetics*
Proto-Oncogene Proteins c-kit / metabolism
Pyrimidines / therapeutic use*
Signal Transduction / genetics
Skin Neoplasms / drug therapy*
Skin Neoplasms / genetics*
Skin Neoplasms / metabolism

Substances

Antineoplastic Agents
Benzamides
Piperazines
Pyrimidines
Imatinib Mesylate
Proto-Oncogene Proteins c-kit