Detection of gene mutations or amplifications in melanocytic neoplasms
AssigneeThe Regents of the University of California
InventorsBoris Bastian, Daniel Pinkel
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Abstract
The present invention provides for methods of typing a melanocytic neoplasm, in particular for classifying a Spitz nevus. The methods comprise detecting in a tumor sample the presence of an increase in copy number of the whole chromosome 11p arm, particularly the presence of an 11p isochromosome, which is associated with the presence of a Spitz nevus. The invention further provides methods of typing a melanocytic neoplasm by detecting the presence of a mutated H-RAS gene, which is also associated with the presence of a Spitz nevus.
Claims16
A method of typing a Spitz nevus in a skin tumor sample from a patient, the method comprising:
- a) detecting an increase in copy number of H-Ras in the skin tumor sample compared to normal
- b) detecting the presence or absence of a mutation at codon 12 or codon 61 in H-Ras wherein the presence of a mutation at codon 12 or codon 61 of H-Ras in a sample with an increase in copy number of H-Ras is indicative of Spitz nevi.
A method of typing a Spitz nevus in a skin tumor sample from a patient, the method comprising detecting the presence of an 11p isochromosome, thereby typing the Spitz nevus.
Dependencies are inferred from the claim text.