Hereditary Melanoma: a Five-year Study of Brazilian Patients in a Cancer Referral Center - Phenotypic Characteristics of Probands and Pathological Features of Primary Tumors

Overview

Journal An Bras Dermatol

Specialty Dermatology

Date 2018 Jun 21

PMID 29924249

Citations 3

Authors

Bianca Costa Soares de Sa

Luciana Facure Moredo

Elimar Elias Gomes

Erica Sara Souza de Araujo

Joao Pedreira Duprat

Affiliations

Soon will be listed here.

Abstract

Background: Approximately five to 10% of all melanomas occur in families with hereditary predisposition and the main high-risk melanoma susceptibility gene is the CDKN2A.

Objectives: To describe, after a five-years study, the clinical data of patients (probands) from familial melanoma kindreds, and the pathological characteristics of their melanoma.

Methods: The inclusion criteria were melanoma patients with a family history of melanoma or pancreatic cancer (first- or second-degree relatives) or patients with multiple primary melanomas (MPM).

Results: A total of 124 probands were studied, where 64 were considered familial cases and 60 MPM. Mean age at diagnosis was 50 years. Our results show that the following characteristics were prevalent: skin phototype I/II (89.5%), sunburn during childhood (85.5%), total number of nevi ≥50 (56.5%), Breslow thickness ≤1.0mm (70.2%), tumors located on the trunk (53.2%) and superficial spreading melanomas (70.2%).

Study Limitations: Analyses of probands' relatives will be demonstrated in future publication.

Conclusions: Our findings are in agreement with previous familial melanomas reports. Fifteen new melanomas in 11 patients were diagnosed during follow up, all of which were ≤1.0 mm. This is the largest dataset of Brazilian melanoma prone kindreds to date, thus providing a complete database for future genetic studies.

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References

Nagore E, Botella-Estrada R, Garcia-Casado Z, Requena C, Serra-Guillen C, Llombart B . Comparison between familial and sporadic cutaneous melanoma in Valencia, Spain. J Eur Acad Dermatol Venereol. 2008; 22(8):931-6. DOI: 10.1111/j.1468-3083.2008.02682.x. View

Puig S, Potrony M, Cuellar F, Puig-Butille J, Carrera C, Aguilera P . Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. Genet Med. 2015; 18(7):727-36. PMC: 4940430. DOI: 10.1038/gim.2015.160. View

Garbe C, Buttner P, Weiss J, Soyer H, Stocker U, Kruger S . Associated factors in the prevalence of more than 50 common melanocytic nevi, atypical melanocytic nevi, and actinic lentigines: multicenter case-control study of the Central Malignant Melanoma Registry of the German Dermatological Society. J Invest Dermatol. 1994; 102(5):700-5. DOI: 10.1111/1523-1747.ep12374298. View

Vasen H, Gruis N, Frants R, van der Velden P, Hille E, Bergman W . Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer. 2000; 87(6):809-11. View

McLean D, Gallagher R . "Sunburn" freckles, café-au-lait macules, and other pigmented lesions of schoolchildren: the Vancouver Mole Study. J Am Acad Dermatol. 1995; 32(4):565-70. DOI: 10.1016/0190-9622(95)90338-0. View

Marquez-Rodas I, Gonzalez M, Nagore E, Gomez-Fernandez C, Aviles-Izquierdo J, Maldonado-Seral C . Frequency and characteristics of familial melanoma in Spain: the FAM-GEM-1 Study. PLoS One. 2015; 10(4):e0124239. PMC: 4395344. DOI: 10.1371/journal.pone.0124239. View

Hansson J . Familial melanoma. Surg Clin North Am. 2008; 88(4):897-916, viii. DOI: 10.1016/j.suc.2008.04.005. View

de Avila A, Krepischi A, Moredo L, Aguiar T, DA Silva F, Soares de Sa B . Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma. Fam Cancer. 2014; 13(4):645-9. DOI: 10.1007/s10689-014-9736-1. View

Azizi E, Friedman J, Pavlotsky F, Iscovich J, Bornstein A, Shafir R . Familial cutaneous malignant melanoma and tumors of the nervous system. A hereditary cancer syndrome. Cancer. 1995; 76(9):1571-8. DOI: 10.1002/1097-0142(19951101)76:9<1571::aid-cncr2820760912>3.0.co;2-6. View

10.

Bliss J, Ford D, Swerdlow A, Armstrong B, Cristofolini M, Elwood J . Risk of cutaneous melanoma associated with pigmentation characteristics and freckling: systematic overview of 10 case-control studies. The International Melanoma Analysis Group (IMAGE). Int J Cancer. 1995; 62(4):367-76. DOI: 10.1002/ijc.2910620402. View

11.

Newton J, Bataille V, Griffiths K, Squire J, Sasieni P, Cuzick J . How common is the atypical mole syndrome phenotype in apparently sporadic melanoma?. J Am Acad Dermatol. 1993; 29(6):989-96. DOI: 10.1016/0190-9622(93)70279-3. View

12.

Ali Z, Yousaf N, Larkin J . Melanoma epidemiology, biology and prognosis. EJC Suppl. 2015; 11(2):81-91. PMC: 4041476. DOI: 10.1016/j.ejcsup.2013.07.012. View

13.

Branstrom R, Chang Y, Kasparian N, Affleck P, Tibben A, Aspinwall L . Melanoma risk factors, perceived threat and intentional tanning: an international online survey. Eur J Cancer Prev. 2010; 19(3):216-26. PMC: 3672405. DOI: 10.1097/CEJ.0b013e3283354847. View

14.

Potrony M, Puig-Butille J, Aguilera P, Badenas C, Carrera C, Malvehy J . Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling. J Am Acad Dermatol. 2014; 71(5):888-95. PMC: 4250348. DOI: 10.1016/j.jaad.2014.06.036. View

15.

Aguilera P, Malvehy J, Carrera C, Palou J, Puig-Butille J, Alos L . Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain. J Clin Exp Dermatol Res. 2015; 5(5):231. PMC: 4399806. DOI: 10.4172/2155-9554.1000231. View

16.

Leachman S, Carucci J, Kohlmann W, Banks K, Asgari M, Bergman W . Selection criteria for genetic assessment of patients with familial melanoma. J Am Acad Dermatol. 2009; 61(4):677.e1-14. PMC: 3307795. DOI: 10.1016/j.jaad.2009.03.016. View

17.

Goldstein A, Chan M, Harland M, Gillanders E, Hayward N, Avril M . High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res. 2006; 66(20):9818-28. DOI: 10.1158/0008-5472.CAN-06-0494. View

18.

Whiteman D, Watt P, Purdie D, Hughes M, Hayward N, Green A . Melanocytic nevi, solar keratoses, and divergent pathways to cutaneous melanoma. J Natl Cancer Inst. 2003; 95(11):806-12. DOI: 10.1093/jnci/95.11.806. View

19.

Chiarugi A, Nardini P, Crocetti E, Carli P, de Giorgi V, Borgognoni L . Familial and sporadic melanoma: different clinical and histopathological features in the Italian population - a multicentre epidemiological study - by GIPMe (Italian Multidisciplinary Group on Melanoma). J Eur Acad Dermatol Venereol. 2011; 26(2):194-9. DOI: 10.1111/j.1468-3083.2011.04035.x. View

20.

Whiteman D, Pavan W, Bastian B . The melanomas: a synthesis of epidemiological, clinical, histopathological, genetic, and biological aspects, supporting distinct subtypes, causal pathways, and cells of origin. Pigment Cell Melanoma Res. 2011; 24(5):879-97. PMC: 3395885. DOI: 10.1111/j.1755-148X.2011.00880.x. View