Melanoma in twins.Cutaneous malignant melanoma in identical twins from a set of triplets

St-Arneault, Guy; Nagel, G. A.; Kirkpatrick, David; Kirkpatrick, Robert B.; Holland, James F.

doi:10.1002/1097-0142(197003)25:3<672::aid-cncr2820250324>3.0.co;2-a

Cited by 17 publications

(1 citation statement)

References 36 publications

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“…St-Arneault et al . [7] described two identical male twins (from a set of triplets) who developed melanoma at age 53, at the same site and within a time frame of 2 months, while the fraternal triplet showed no evidence of tumour. More recently, Rao et al [8] reported two 71-year-old, identical female twins, diagnosed with melanoma at the same time (within 10 days of each other) and location (right calf).…”

Section: Discussionmentioning

confidence: 99%

MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair

et al. 2012

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BackgroundConcomitant primary cutaneous melanoma in monozygotic twins has been reported in only two pairs but in neither of them genetic analysis was performed. Two high-penetrance susceptibility genes, CDKN2A and CDK4 and one low-penetrance gene, MC1R, are well-defined genetic risk factors for melanoma. MITF has been recently identified as a novel intermediate risk melanoma-predisposing gene.Case presentationWe describe the extraordinary occurrence of a primary cutaneous invasive melanoma in two 44-year-old identical, female twins, on the same body site within 30 days of each other and report for the first time the genetic analysis of melanoma susceptibility genes in both twins. Data on characteristics of the twins were collected through a standardized questionnaire and skin examination. Exons 1α, 1β, 2 and 3 of CDKN2A, exon 2 of CDK4, the entire open reading frame of MC1R and the recently described MITF c.952 G > A (p.Glu318Lys) variant were investigated by direct sequencing. Sequencing analysis of the high-penetrance susceptibility genes showed no changes in CDKN2A and in exon 2 of the CDK4 gene. Both patients were heterozygous for the same CDKN2A UTR c.*29C > G variant. Interestingly, the same two heterozygous variants of the MC1R were identified in both twins: the c.451C > T (p.Arg151Cys) and the c.456C > A (p.Tyr152*) variants. Neither patient showed the c.952 G > A (p.Glu318Lys) substitution in the MITF gene.ConclusionsIdentification of two high-risk MC1R variants in our identical twins in the absence of CDKN2A and CDK4 mutations highlights the contribution of low penetrance genes, such as MC1R, in melanoma susceptibility.

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Section: Discussionmentioning

confidence: 99%

MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair

et al. 2012

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Origin of Familial Malignant Melanomas From Heritable Melanocytic Lesions

Clark¹

1978

Arch Dermatol

679

128

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Frequency of Dysplastic Nevi Among Nevomelanocytic Lesions Submitted for Histopathologic Examination

Barnhill

Kiryu²,

Sober³

et al. 1990

Arch Dermatol

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All cutaneous nevomelanocytic specimens accessioned for histopathologic examination at Massachusetts General Hospital, Boston, in 1950, 1960, 1970, and 1987 were reviewed. The specimens were categorized as malignant melanoma, acquired or congenital benign nevi, blue nevi, spindle and epithelioid cell nevi, and dysplastic nevi. Other processes such as lentigines were excluded. There was a threefold increase in percentage of patients having nevomelanocytic lesions removed (1.5% in 1950 to 4.6% in 1987) compared with total surgical cases over the 37-year period. A progressive increase in numbers and percentages of dysplastic nevi (among nevomelanocytic surgical cases) was noted over a 37-year interval--2 cases (1% of nevomelanocytic cases) in 1950, 4 cases (2%) in 1960, 23 cases (5%) in 1970, and 189 cases (12%) in 1987. These findings confirm the existence of dysplastic nevi by histopathologic criteria as early as 1950 and illustrate the frequencies of various nevomelanocytic surgical specimens among all surgical specimens at four points in time over a 37-year period at a major referral center for pigmented lesions.

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Melanoma in twins.Cutaneous malignant melanoma in identical twins from a set of triplets

Cited by 17 publications

References 36 publications

MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair

MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair

Origin of Familial Malignant Melanomas From Heritable Melanocytic Lesions

Frequency of Dysplastic Nevi Among Nevomelanocytic Lesions Submitted for Histopathologic Examination

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