Tags

Type your tag names separated by a space and hit enter

Malignant melanoma in patients with hereditary nonpolyposis colorectal cancer.
Br J Dermatol. 2008 Jul; 159(1):162-8.BJ

Abstract

BACKGROUND

Malignant melanoma (MM) is the most aggressive skin cancer. Most MMs are sporadic, and in this setting an association with mismatch repair (MMR) gene mutations, typical of hereditary nonpolyposis colorectal cancer (HNPCC) tumours, has been proposed.

OBJECTIVES

To characterize clinically and/or by molecular biology the patients with MM belonging to a cohort of 60 kindreds with HNPCC. Methods Patients with HNPCC with a diagnosis of MM were studied by immunohistochemistry (IHC) on tumour tissue using antibodies to MLH1, MSH2, p16, beta-catenin and E-cadherin, and by direct sequencing of MMR genes on germline DNA, and BRAF and NRAS on somatic DNA extracted from MM.

RESULTS

Nine cutaneous MMs were detected in the tumour spectrum of eight families with HNPCC. The median age at diagnosis was 46 years. In one HNPCC family the diagnosis of MM was made in two first-degree relatives fitting the clinical definition of familial melanoma. IHC and sequencing analysis showed an MSH2 mutation in one patient with MM.

CONCLUSIONS

Dermatological surveillance should be recommended to families in which MM is diagnosed in at least one member, especially at a young age. The combination of MMR gene mutations and abnormalities of p16 or other molecular pathways is needed to induce melanocytic carcinogenesis in a familial setting as well as in sporadic MM.

Authors+Show Affiliations

Department of Oncology and Haematology, University of Modena and Reggio Emilia, 41100 Modena, Italy. ponti.giovanni@unimo.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18460031

Citation

Ponti, G, et al. "Malignant Melanoma in Patients With Hereditary Nonpolyposis Colorectal Cancer." The British Journal of Dermatology, vol. 159, no. 1, 2008, pp. 162-8.
Ponti G, Losi L, Pellacani G, et al. Malignant melanoma in patients with hereditary nonpolyposis colorectal cancer. Br J Dermatol. 2008;159(1):162-8.
Ponti, G., Losi, L., Pellacani, G., Wannesson, L., Cesinaro, A. M., Venesio, T., Petti, C., & Seidenari, S. (2008). Malignant melanoma in patients with hereditary nonpolyposis colorectal cancer. The British Journal of Dermatology, 159(1), 162-8. https://doi.org/10.1111/j.1365-2133.2008.08575.x
Ponti G, et al. Malignant Melanoma in Patients With Hereditary Nonpolyposis Colorectal Cancer. Br J Dermatol. 2008;159(1):162-8. PubMed PMID: 18460031.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Malignant melanoma in patients with hereditary nonpolyposis colorectal cancer. AU - Ponti,G, AU - Losi,L, AU - Pellacani,G, AU - Wannesson,L, AU - Cesinaro,A M, AU - Venesio,T, AU - Petti,C, AU - Seidenari,S, Y1 - 2008/07/01/ PY - 2008/5/8/pubmed PY - 2008/10/24/medline PY - 2008/5/8/entrez SP - 162 EP - 8 JF - The British journal of dermatology JO - Br. J. Dermatol. VL - 159 IS - 1 N2 - BACKGROUND: Malignant melanoma (MM) is the most aggressive skin cancer. Most MMs are sporadic, and in this setting an association with mismatch repair (MMR) gene mutations, typical of hereditary nonpolyposis colorectal cancer (HNPCC) tumours, has been proposed. OBJECTIVES: To characterize clinically and/or by molecular biology the patients with MM belonging to a cohort of 60 kindreds with HNPCC. Methods Patients with HNPCC with a diagnosis of MM were studied by immunohistochemistry (IHC) on tumour tissue using antibodies to MLH1, MSH2, p16, beta-catenin and E-cadherin, and by direct sequencing of MMR genes on germline DNA, and BRAF and NRAS on somatic DNA extracted from MM. RESULTS: Nine cutaneous MMs were detected in the tumour spectrum of eight families with HNPCC. The median age at diagnosis was 46 years. In one HNPCC family the diagnosis of MM was made in two first-degree relatives fitting the clinical definition of familial melanoma. IHC and sequencing analysis showed an MSH2 mutation in one patient with MM. CONCLUSIONS: Dermatological surveillance should be recommended to families in which MM is diagnosed in at least one member, especially at a young age. The combination of MMR gene mutations and abnormalities of p16 or other molecular pathways is needed to induce melanocytic carcinogenesis in a familial setting as well as in sporadic MM. SN - 1365-2133 UR - https://www.unboundmedicine.com/medline/citation/18460031/Malignant_melanoma_in_patients_with_hereditary_nonpolyposis_colorectal_cancer_ L2 - https://doi.org/10.1111/j.1365-2133.2008.08575.x DB - PRIME DP - Unbound Medicine ER -