Nevoid malignant melanoma in an albino woman

Binesh, Fariba; Akhavan, Ali; Navabii, Hossein

doi:10.1136/bcr.08.2010.3262

Cited by 5 publications

(2 citation statements)

References 15 publications

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“…Decreased melanin production results in individuals with OCA having a heightened sensitivity to ultraviolet radiation (UVR), predisposing them to skin cancers such as squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) (Lookingbill, Lookingbill, & Leppard, ; Okoro, ). The occurrence of cutaneous melanoma (CM) is rare in OCA populations, but when it does occur, CM is predominantly of the amelanotic subtype (Binesh, Akhavan, & Navabii, ; Dargent, Lespagnard, Heenen, & Verhest, ; Ihn et al, ; Levine, Ronan, Shirali, Gupta, & Karakousis, ) and patients rarely develop multiple primary melanomas (MPMs) (De Summa et al, ). Genome‐wide association studies (GWAS) have identified several loci associated with CM, including the OCA genes TYR (rs1393350; p = 2.4 × 10 −25 ) , OCA2 (rs4778138; p = 2.2 × 10 −11 ) and SLC45A2 (rs250417; p = 2.3 × 10 −12 ) (Law et al, ), hypothesized to be mediated through their roles in pigmentation.…”

Section: Heterozygous Germline Variants In Oca Genes: Variants In Ocamentioning

confidence: 99%

Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

Nathan

Johansson

Palmer

et al. 2019

Pigment Cell Melanoma Res

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Approximately 1%–2% of cutaneous melanoma (CM) is classified as strongly familial. We sought to investigate unexplained CM predisposition in families negative for the known susceptibility genes using next‐generation sequencing of affected individuals. Segregation of germline variants of interest within families was assessed by Sanger sequencing. Several heterozygous variants in oculocutaneous albinism (OCA) genes: TYR, OCA2, TYRP1 and SLC45A2, were present in our CM cohort. OCA is a group of autosomal recessive genetic disorders, resulting in pigmentation defects of the eyes, hair and skin. Missense variants classified as pathogenic for OCA were present in multiple families and some fully segregated with CM. The functionally compromised TYR p.T373K variant was present in three unrelated families. In OCA2, known pathogenic variants: p.V443I and p.N489D, were present in three families and one family, respectively. We identified a likely pathogenic SLC45A2 frameshift variant that fully segregated with CM in a family of four cases. Another four‐case family harboured cosegregating variants (p.A24T and p.R153C) of uncertain functional significance in TYRP1. We conclude that rare, heterozygous variants in OCA genes confer moderate risk for CM.

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Section: Heterozygous Germline Variants In Oca Genes: Variants In Ocamentioning

confidence: 99%

Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

Nathan

Johansson

Palmer

et al. 2019

Pigment Cell Melanoma Res

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“…Underlying OCA is not known to alter the management of skin malignancies. This is evident from various case reports where nonmetastatic skin tumors were managed with wide local excision in patients with albinism [ 9 , 11 ]. Hence, each individual lesion was excised and submitted for histological assessment.…”

Section: Discussionmentioning

confidence: 99%

Synchronous Triple Malignancies in an Indian Albino: A Case Report

Darlington

Narayanan

Anitha³

2018

Cureus

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Oculocutaneous albinism (OCA) is a heterogenous disorder of skin pigmentation characterized by hypopigmentation of the skin, hair, and eyes. The absence of melanin predisposes these individuals to ultraviolet rays induced malignancies. Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) in OCA have been rarely reported. Malignant melanoma (MM) of the skin is also very rarely reported. Synchronous BCC, SCC, and MM are exceedingly rare. We report one such case managed successfully with surgical treatment. All the three malignancies were localized cancers and hence the outcome was good. The importance of regular follow up and periodic self-examination in such predisposed individuals are highlighted.

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