Occurrence of cutaneous and uveal melanoma in patients with uveal melanoma and their first degree relatives

Hees, C.L.M. van; Jager, M. J.; Bleeker, J.C.; Kemme, H.; Bergman, Wilma

doi:10.1097/00008390-199804000-00013

Cited by 34 publications

(28 citation statements)

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“…Regarding the observed increased risk of cutaneous melanoma in particular, our findings confirmed those by other groups. 22,23,37 Despite being rather controversial, the link between skin and uveal melanoma might be their common origin from melanocytes, derived from the neural crest. 23 However, these 2 tumors show remarkable differences in their metastatic spread and therapeutic response.…”

Section: Study Populationmentioning

confidence: 99%

Second Primary Neoplasms in Patients With Uveal Melanoma: A SEER Database Analysis

Bartosch

Mondim

Healy

et al. 2016

American Journal of Ophthalmology

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PURPOSE: To determine the risk of second primary neoplasms (SPNs) in subjects previously diagnosed with uveal melanoma (UM), including an analysis on whether radiotherapy is a risk factor to develop these SPNs.DESIGN: Retrospective cohort study. METHODS: Using the Surveillance, Epidemiology, and End Results (SEER) 9 database, we identified patients diagnosed with UM as their first malignancy between 1973 and 2011 (n [ 3976). We obtained standardized incidence ratios (SIR) and excess absolute risks of SPNs on patients with UM compared to a reference population. Multivariate Cox regression models were used to evaluate the effect of radiotherapy in SPN risk.RESULTS: Sixteen percent (n [ 641) of the patients developed SPNs during a median follow-up of 83 months (range, 1-463 months). This represented an 11% excess risk compared to the reference population, mainly owing to a significantly increased risk of skin melanomas (SIR [ 2.93, 95% CI: 2.23-3.78) and kidney tumors (SIR [ 1.91, 95% CI: 1.27-2.76), primarily in those diagnosed between 30 and 59 years of age. The occurrence of second UM was also increased (SIR [ 16.90, 95% CI: 9.00-28.90), which likely includes recurrences misclassified as a second cancer. Radiotherapy was performed in 39% (n [ 1538) of the patients. Multivariate analysis revealed that this treatment was not an independent risk factor for SPNs (hazard ratio [ 1.06, 95% CI: 0.88-1.26, P [ .54).CONCLUSIONS: Patients with UM presented an 11% higher risk of SPNs compared to the reference population. Radiotherapy does not seem to be a risk factor. SPNs should be considered in the surveillance of UM. (Am J Ophthalmol 2016;165:54-64. Ó 2016 Elsevier Inc. All rights reserved.) P UBLISHED DATA ON SURVIVAL OF UVEAL MELAnoma demonstrate that more than half of the patients are long-term survivors. At 5 and 10 years, the survival rates range between 68%-82% and 57%-62%, respectively.

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Section: Study Populationmentioning

confidence: 99%

Second Primary Neoplasms in Patients With Uveal Melanoma: A SEER Database Analysis

Bartosch

Mondim

Healy

et al. 2016

American Journal of Ophthalmology

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“…The coexistence of OM and CM in some patients has suggested a predisposition to both types. 15 However, data from the Swedish Family-Cancer Database have failed to find any association between OM and CM, although the power for OM as a rare cancer has been limited. 2,16 However, an association between OM and breast cancer was found, which is in agreement with data implicating BRCA2 as a predisposition gene.…”

Section: Dear Sirmentioning

confidence: 99%

Association of first ocular melanoma with subsequent cutaneous melanoma: Results from the Swedish Family‐Cancer Database

Hemminki

Zhang

Czene

2003

Intl Journal of Cancer

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“…Numerous clinical and biological data suggest common hereditary factors for UMM and cutaneous melanoma (CMM). UMM may occur in familial CMM probands (Newton Bishop et al, 1994;Van Hees et al, 1998). CMM may be present in first-degree relatives of UMM patients, often in association with dysplastic naevus syndrome (DNS) (Van Hees et al, 1998).…”

mentioning

confidence: 99%

“…UMM may occur in familial CMM probands (Newton Bishop et al, 1994;Van Hees et al, 1998). CMM may be present in first-degree relatives of UMM patients, often in association with dysplastic naevus syndrome (DNS) (Van Hees et al, 1998). Co-existence of UMM and CMM in a same individual occur in up to 2% of UMM patients (Bataille et al, 1993;Van Hees et al, 1998).…”

mentioning

confidence: 99%

“…CMM may be present in first-degree relatives of UMM patients, often in association with dysplastic naevus syndrome (DNS) (Van Hees et al, 1998). Co-existence of UMM and CMM in a same individual occur in up to 2% of UMM patients (Bataille et al, 1993;Van Hees et al, 1998). Finally, uveal and cutaneous melanocytes share a common embryology, originating in the neural crest.…”

mentioning

confidence: 99%

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Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16INK4A, P14ARF or cdk4 genes

Soufir

Paillerets

Desjardins³

et al. 2000

Br J Cancer

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SummaryIn familial cutaneous malignant melanoma (CMM), disruption of the retinoblastoma (pRB) pathway frequently occurs through inactivating mutations in the p16 (p16 INK4A /CDKN2A/MTS1) gene or activating mutations in the G1-specific cyclin dependent kinase 4 gene (CDK4). Uveal malignant melanoma (UMM) also occurs in a familial setting, or sometimes in association with familial or sporadic CMM. Molecular studies of sporadic UMM have revealed somatic deletions covering the INK4A-ARF locus (encoding P16 INK4A and P14 ARF ) in a large proportion of tumours. We hypothesized that germline mutations in the p16 INK4A , p14 ARF or CDK4 genes might contribute to some cases of familial UMM, or to some cases of UMM associated with another melanoma. Out of 155 patients treated at the Institut Curie for UMM between 1994 and 1997, and interviewed about their personal and familial history of melanoma, we identified seven patients with a relative affected with UMM (n = 6) or CMM (n = 1), and two patients who have had, in addition to UMM, a personal history of second melanoma, UMM (n = 1), or CMM (n = 1). We screened by polymerase chain reaction single-strand conformation polymorphism the entire coding sequence of the INK4A-ARF locus (exon 1α from p16 INK4A , exon 1β from p14 ARF , and exons 2 and 3, common to both genes), as well as the exons 2, 5 and 8 of the CDK4 gene, coding for the functional domains involved in p16 and/or cyclin D1 binding. A previously reported polymorphism in exon 3 of the INK4A-ARF locus was found in one patient affected with bilateral UMM, but no germline mutations were detected, either in the p16 INK4A , p14 ARF or CDK4 genes. Our data support the involvement of other genes in predisposition to uveal melanoma.

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Occurrence of cutaneous and uveal melanoma in patients with uveal melanoma and their first degree relatives

Cited by 34 publications

References 0 publications

Second Primary Neoplasms in Patients With Uveal Melanoma: A SEER Database Analysis

Second Primary Neoplasms in Patients With Uveal Melanoma: A SEER Database Analysis

Association of first ocular melanoma with subsequent cutaneous melanoma: Results from the Swedish Family‐Cancer Database

Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16INK4A, P14ARF or cdk4 genes

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