초록 ▼

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, wh

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.

대표청구항 ▼

1. 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

1. 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. 2. The method of claim 1, wherein the step of detecting the presence or absence of a mutation comprises amplifying a nucleic acid that encodes H-RAS or a fragment thereof; sequencing the amplified product; and determining the presence of the mutation in the amplified product. 3. The method of claim 2, wherein the amplifying step comprises a PCR reaction. 4. The method of claim 3, wherein the primers for the PCR reaction are SEQ ID NOs: 1 and 2. 5. The method of claim 3, wherein the primers for the PCR reaction are SEQ ID NOs: 3 and 4. 6. The method of claim 2, wherein the nucleic acid is genomic DNA. 7. The method of claim 2, wherein the nucleic acid is RNA. 8. The method of claim 1, wherein the step of detecting the presence or absence of a mutation comprises contacting a nucleic acid from the sample with a probe that selectively hybridizes to the mutation in the mutant H-RAS target nucleic acid sequence to form a stable hybridization complex, wherein the nucleic acid is contacted with the probe under conditions in which the probe binds selectively to the mutant H-RAS target nucleic acid sequence. 9. The method of claim 8, wherein the nucleic acid is amplified in an amplifying step. 10. The method of claim 8, wherein the amplifying step comprises a PCR reaction. 11. The method of claim 8, wherein the nucleic acid is genomic DNA. 12. The method of claim 8, wherein the nucleic acid is RNA. 13. 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. 14. The method of claim 13, wherein the detecting step comprises: hybridizing a nucleic acid from the sample with a first probe labeled with a detectable label, wherein the probe selectively hybridizes to a target nucleic acid sequence on chromosome 11p adjacent to the centromere, and detecting the presence of paired hybridization signals from the first probe. 15. The method of claim 14, wherein the detecting step further comprises hybridizing the nucleic acid from the sample with a second probe labeled with a second detectable label distinguishable from the first, wherein the second probe selectively hybridizes to a target nucleic acid sequence on chromosome 11q adjacent to the centromere; and further comprising detecting a signal from the second label that is next to the signal from the first. 16. The method of claim 15, wherein the first label is a fluorescent label and the second label is a fluorescent label that is a different color from the first.