A novel germline mutation in CDK4 codon 24 associated to familial melanoma

A novel germline mutation in CDK4 codon 24 associated to familial melanoma To the Editor:Germline mutations of the CDK4 gene have been reported in 18 familial cutaneous melanoma (CM) cases worldwide, with only 2 substitutions, the c.70C>T,p.Arg24Cys and c.71G>A,p.Arg24His, described to date. Moreover, the acquired CDK4 p.Asn41Ser variant has been related to sporadic metastatic malignant melanoma. Here we report the molecular studies of a familial case of CM carrying the new germline CDK4 c.71G>T,p.Arg24Leu.A phototype II, 55‐year‐old man (III:2, Figure A) came to our attention because of multiple acquired melanocytic nevi and multiple CM. At the age of 50, he developed a pigmented epithelioid melanocytoma of the left arm, with a vertical growth phase phenotype. Histology showed >1 mitoses/mm2, absence of ulceration and focal inflammatory infiltrate “brisk‐like” (p‐T2a stage). Immunohistochemistry was positive for s100, MART1, HMB45, LCA and Ki‐67. Later, he underwent surgery for 2 in situ melanomas with irregular border and dermal aspects of regression (p‐Tis). Over the ensuing 3 years many benign and dysplastic nevi were removed. A family history of melanoma emerged: the father (II:2) and 1 child (IV:3) had respectively suffered, of metastatic CM at age 68, and in situ melanoma at age 24, while the other 2 children (IV:1 and IV:2) had recurrent melanocytic nevi. The patients http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
ISSN
0009-9163
eISSN
1399-0004
D.O.I.
10.1111/cge.13129
Publisher site
See Article on Publisher Site

Abstract

To the Editor:Germline mutations of the CDK4 gene have been reported in 18 familial cutaneous melanoma (CM) cases worldwide, with only 2 substitutions, the c.70C>T,p.Arg24Cys and c.71G>A,p.Arg24His, described to date. Moreover, the acquired CDK4 p.Asn41Ser variant has been related to sporadic metastatic malignant melanoma. Here we report the molecular studies of a familial case of CM carrying the new germline CDK4 c.71G>T,p.Arg24Leu.A phototype II, 55‐year‐old man (III:2, Figure A) came to our attention because of multiple acquired melanocytic nevi and multiple CM. At the age of 50, he developed a pigmented epithelioid melanocytoma of the left arm, with a vertical growth phase phenotype. Histology showed >1 mitoses/mm2, absence of ulceration and focal inflammatory infiltrate “brisk‐like” (p‐T2a stage). Immunohistochemistry was positive for s100, MART1, HMB45, LCA and Ki‐67. Later, he underwent surgery for 2 in situ melanomas with irregular border and dermal aspects of regression (p‐Tis). Over the ensuing 3 years many benign and dysplastic nevi were removed. A family history of melanoma emerged: the father (II:2) and 1 child (IV:3) had respectively suffered, of metastatic CM at age 68, and in situ melanoma at age 24, while the other 2 children (IV:1 and IV:2) had recurrent melanocytic nevi. The patients

Journal

Clinical GeneticsWiley

Published: Jan 1, 2018

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