Dataset Information

Histologic features of melanoma associated with CDKN2A genotype.

ABSTRACT:

Background

Inherited susceptibility genes have been associated with histopathologic characteristics of tumors.

Objective

We sought to identify associations between histology of melanomas and CDKN2A genotype.

Methods

This was a case-control study design comparing 28 histopathologic tumor features among individuals with sporadic melanomas (N = 81) and cases from melanoma families with (N = 123) and without (N = 120) CDKN2A germline mutations.

Results

Compared with CDKN2A(-) cases, mutation carriers tended to have histologic features of superficial spreading melanoma subtype including higher pigmentation (Ptrend = .02) and increased pagetoid scatter (Ptrend = .07) after adjusting for age at diagnosis, sex, and American Joint Committee on Cancer thickness category. Similar associations were observed when comparing mutation carriers with a combined group of CDKN2A(-) (wild type) and sporadic melanomas. The presence of spindle cell morphology in the vertical growth phase was also an important predictor of genotype. Of the 15 cases with this phenotype, none were observed to harbor a CDKN2A mutation.

Limitations

Our study examined rare mutations and may have been underpowered to detect small, but biologically significant associations between histology and genotype.

Conclusion

Familial melanomas with CDKN2A mutations preferentially express a histologic phenotype of dense pigmentation, high pagetoid scatter, and a non-spindle cell morphology in the vertical growth phase.

SUBMITTER: Sargen MR

PROVIDER: S-EPMC4333073 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature

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Publications

Histologic features of melanoma associated with CDKN2A genotype.

Sargen Michael R MR Kanetsky Peter A PA Newton-Bishop Julia J Hayward Nicholas K NK Mann Graham J GJ Gruis Nelleke A NA Tucker Margaret A MA Goldstein Alisa M AM Bianchi-Scarra Giovanna G Puig Susana S Elder David E DE

Journal of the American Academy of Dermatology 20150113 3

<h4>Background</h4>Inherited susceptibility genes have been associated with histopathologic characteristics of tumors.<h4>Objective</h4>We sought to identify associations between histology of melanomas and CDKN2A genotype.<h4>Methods</h4>This was a case-control study design comparing 28 histopathologic tumor features among individuals with sporadic melanomas (N = 81) and cases from melanoma families with (N = 123) and without (N = 120) CDKN2A germline mutations.<h4>Results</h4>Compared with CDKN ...[more]

PMID: 25592620

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Dataset Information

Histologic features of melanoma associated with CDKN2A genotype.

Background

Objective

Methods

Results

Limitations

Conclusion

Publications

Histologic features of melanoma associated with CDKN2A genotype.

Similar Datasets

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