Research Papers:

Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a caucasian family

Simona De Summa _, Michele Guida, Stefania Tommasi, Sabino Strippoli, Cristina Pellegrini, Maria Concetta Fargnoli, Brunella Pilato, Iole Natalicchio, Gabriella Guida and Rosamaria Pinto

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Oncotarget. 2017; 8:29751-29759. https://doi.org/10.18632/oncotarget.12777

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Simona De Summa1,*, Michele Guida2,*, Stefania Tommasi1, Sabino Strippoli2, Cristina Pellegrini3, Maria Concetta Fargnoli3, Brunella Pilato1, Iole Natalicchio4, Gabriella Guida5, Rosamaria Pinto1

1IRCCS Istituto Tumori “Giovanni Paolo II”, Molecular Genetics Laboratory, Bari, Italy

2IRCCS Istituto Tumori “Giovanni Paolo II”, Oncology Unit, Bari, Italy

3University of L’Aquila, Department of Biotechnological and Applied Clinical Sciences, L’Aquila, Italy

4Section of Clinic Pathology, OO.RR., Foggia, Italy

5University of Bari, Department of Medical Biochemistry, Bari, Italy

*These authors have contributed equally to this work

Correspondence to:

Stefania Tommasi, email: [email protected]

Keywords: multiple primary melanoma, albinism, MGMT, family study, susceptibility

Received: August 02, 2016    Accepted: October 04, 2016    Published: October 20, 2016


Multiple primary melanoma (MPM) is a rare condition, whose genetic basis has not yet been clarified. Only 8-12% of MPM are due to germline mutations of CDKN2A. However, other genes (POT1, BRCA1/2, MC1R, MGMT) have been demonstrated to be involved in predisposition to this pathology.

To our knowledge, this is the first family study based on two siblings with the rare coexistence of MPM and oculocutaneous albinism (OCA), an autosomal recessive disease characterized by the absence or decrease in pigmentation in the skin, hair, and eyes.

In this study, we evaluated genes involved in melanoma predisposition (CDKN2A, CDK4, MC1R, MITF, POT1, RB1, MGMT, BRCA1, BRCA2), pathogenesis (BRAF, NRAS, PIK3CA, KIT, PTEN), skin/hair pigmentation (MC1R, MITF) and in immune pathways (CTLA4) to individuate alterations able to explain the rare onset of MPM and OCA in indexes and the transmission in their pedigree.

From the analysis of the pedigree, we were able to identify a “protective” haplotype with respect to MPM, including MGMT p.I174V alteration. The second generation offspring is under strict follow up as some of them have a higher risk of developing MPM according to our model.

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