Sensitivity of fluorescence in situ hybridization for melanoma diagnosis using RREB1, MYB, Cep6, and 11q13 probes in melanoma subtypes.
OBJECTIVE
To evaluate the diagnostic sensitivity of fluorescence in situ hybridization (FISH) using probes targeting 6p25, 6q23, 11q13, and Cep6 in melanoma subtypes.


METHODS
Blinded comparison of chromosomal copy number changes detected using FISH targeting 6p25, 6q23, 11q13, and Cep6 in benign nevi and melanoma subtypes.


METHODS
Dermatopathology Laboratory, Department of Dermatology, Northwestern University, Chicago, Illinois.


METHODS
One hundred ten individuals with benign nevi and 123 with melanoma (70 superficial spreading, 28 lentigo maligna, 22 nodular, and 3 acral lentiginous melanomas).


METHODS
Sensitivity of previously developed criteria using FISH using probes targeting 6p25, 6q23, 11q13, and Cep6 in the melanoma subtypes.


RESULTS
Overall, sensitivity was 83.0% and specificity was 94.0%. The 6p25 gain criterion had the highest sensitivity overall and in each subtype. The assay was most sensitive in the subgroups of nodular and acral melanomas and least sensitive in the superficial spreading subtype. The 11q13 gain was more commonly seen in chronically sun-damaged skin and infrequently in non-chronically sun-damaged skin.


CONCLUSIONS
Heterogeneous changes in melanoma occur at the molecular level, and the changes are different among melanoma subtypes. Clonal abnormalities in chromosome 6 with increased copies of the short arm relative to the long arm are common in all melanoma subtypes, suggesting that isochromosome 6 is common in all variants of cutaneous melanoma subtypes. An increase in copy number of 11q13 is most frequent in chronically sun-damaged melanomas.
Gerami
Pedram
P
Department of Dermatology, Feinberg School of Medicine, Northwestern University, 676 N St Clair Street, Chicago, IL 60611, USA. Pedram.Gerami@nmff.org
Mafee
Mariam
M
Lurtsbarapa
Teekay
T
Guitart
Joan
J
Haghighat
Zahra
Z
Newman
Marissa
M
D000368:Aged; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11; D002896:Chromosomes, Human, Pair 6; D019938:Cyclin D1 / Q000235:genetics*; D015342:DNA Probes; D004273:DNA, Neoplasm / Q000032:analysis*; D004268:DNA-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics; D008875:Middle Aged; D020598:Proto-Oncogene Proteins c-myb / Q000235:genetics*; D012680:Sensitivity and Specificity; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D016335:Zinc Fingers
D015342:DNA Probes; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D020598:Proto-Oncogene Proteins c-myb; C101743:RREB1 protein, human; D014157:Transcription Factors; D019938:Cyclin D1