Identical Twins With Primary Cutaneous Melanoma Presenting at the Same Time and Location

Rao, Babar; Noor, Omar; Thosani, Maya-Kolipakam

doi:10.1097/dad.0b013e318164fc87

Cited by 7 publications

(2 citation statements)

References 19 publications

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“…Recently, it was reported that COX-2 is strongly expressed in malignant melanoma, and may be correlated with disease development and progression. In contrast, other studies did not detect this protein in primary melanoma cells, but it was found in infiltrating inflammatory or metastatic cells (20)(21)(22).…”

Section: Discussionmentioning

confidence: 65%

Untitled

2019

Iran J Pathol

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KEYWORDS ABSTRACTMalignant melanoma, COX-2, Prognostic FactorsBackground and Objective: The primary goal of this study is to develop a rigorous understanding of the correlation between COX-2 expression and malignant melanoma prognostic factors.Material and Methods: In this cross-sectional study, we analyzed 60 cases of cutaneous malignant melanoma. The related stained slides were reviewed by two pathologists. The results were interpreted according to the COX2 staining index (SI), tumor thickness (Breslow, Clark), number of mitoses per 10 hpf, and melanoma types. Gender, lymph node involvement, metastasis, and survival were considered as evaluation factors as well.Results: The expression of the COX-2 protein was evident in 98.4% of cases. A strong Staining Index(SI) was reported in 60% of all melanomas, moderate staining was detected in 20.8% and weak staining in 10%; 1.6% of studied cases showed no staining. Benign nevus specimens showed no staining for the COX-2 enzyme.Conclusion: We have demonstrated that COX-2 is strongly expressed in the majority of malignant melanomas and that the SI score of COX-2 is related to the number of mitoses, tumor thickness (based on Clark level and Breslow), melanoma sub-type, lymph node involvement, and metastases; No association was noted between the anatomic site, gender, and survival. COX-2 can be applied as a prognostic factor in malignant melanoma and a promising candidate for future target therapies. Article Info

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Section: Discussionmentioning

confidence: 65%

Untitled

2019

Iran J Pathol

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“…[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). Our patients were skin type 1 as the latter pair but they were younger than both pairs.…”

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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Genetic Susceptibility and High Risk Groups for Pancreatic Cancer

Greenhalf

Neoptolemos

2010

Pancreatic Cancer

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Identical Twins With Primary Cutaneous Melanoma Presenting at the Same Time and Location

Cited by 7 publications

References 19 publications

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

Genetic Susceptibility and High Risk Groups for Pancreatic Cancer

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