A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma

Kaufman, David K.; Kimmel, David W.; Parisi, Joseph E.; Michels, Virginia V.

doi:10.1212/wnl.43.9.1728

Cited by 68 publications

(48 citation statements)

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“…Interestingly, accumulation of meningiomas together with skin melanomas and gliomas has been described in earlier case reports in families not known to represent any previously established tumour syndrome (MIM 155755). [21][22][23] In another Finnish population-based cohort study, also similarly increased risks of meningioma and skin melanoma were found among brain tumour patients as second primary cancers. 24 This supports our results as the risks were increased irrespective of the treatment given to the first brain tumour.…”

Section: Discussionmentioning

confidence: 99%

Cancer incidence in families with multiple glioma patients

Paunu

Pukkala

Laippala

et al. 2001

Intl Journal of Cancer

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Twenty-four Finnish families with 2 or more glioma patients were identified through questionnaires sent to 369 consecutive glioma patients receiving surgery at Tampere University Hospital during 1983-94. To explore whether unusual cancer susceptibility is involved, the cancer risk of 2,664 family members was estimated using population-based data from the Finnish Cancer Registry. Among the total cohort of relatives, 88 cancers were observed during 1953-97. The overall cancer risk among 12 families with juvenile onset gliomas was significantly decreased (standardized incidence ratio [SIR] 0.6, 95% confidence interval [CI]: 0.4 -0.9). Among 12 families with adult onset gliomas, the overall cancer risk was equal to that of the reference population (SIR 1.1, 95% CI: 0.8 -1.4) whereas the risk of skin melanoma (SIR 4.0, 95% CI: 1.5-8.8) and meningioma (SIR 5.5, 95% CI: 1.1-16) were significantly increased. Several other tumors, including those associated with neurofibromatosis 1 and 2, tuberous sclerosis and Li-Fraumeni and Turcot syndromes were surveyed, but no elevated risks were observed. In conclusion, the presence of meningiomas and skin melanomas in glioma families may indicate a novel association as a cancer susceptibility trait.

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Section: Discussionmentioning

confidence: 99%

Cancer incidence in families with multiple glioma patients

Paunu

Pukkala

Laippala

et al. 2001

Intl Journal of Cancer

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“…Recent evidence has accumulated to indicate that ARF mutations independently predispose to melanoma, as well as nervous system tumours (NSTs). Interestingly, this combination of tumours has been proposed as a discrete syndrome (OMIM 155755) by several investigators (Kaufman et al, 1993;Azizi et al, 1995;Bahuau et al, 1997). The first documented individual to carry a constitutional deletion of part of chromosome 9p, because of an unbalanced chromosome translocation, developed multiple melanomas and a plexiform neurofibroma (Petty et al, 1993).…”

Section: Arfmentioning

confidence: 99%

Genetics of melanoma predisposition

2003

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“…The familial clustering of both melanoma and neural system tumours (NST) was first reported in 1993 by Kaufman et al (1993) in a single family with eight family members over three generations who were diagnosed with cutaneous melanoma, cerebral astrocytoma or both. Azizi et al (1995) surveyed 904 melanoma Jewish-Israeli patients for the occurrence of NST in their family pedigrees.…”

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confidence: 99%

Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours

et al. 2005

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To gain insight into the molecular mechanisms involved in the inherited predisposition to melanoma and associated neural system tumours, 42 Jewish, mainly Ashkenazi, melanoma families with or without neural system tumours were genotyped for germline point mutations and genomic deletions at the CDKN2A/ARF and CDK4 loci. CDKN2A/ARF deletion detection was performed using D9S1748, an intragenic microsatellite marker. Allele dosage at the p14 ARF locus was analysed by quantitative real-time PCR employing a TaqMan probe that anneals specifically to exon 1b of the p14 ARF gene. For detecting point mutations, dHPLC and direct sequencing of the coding sequences of CDKN2A/ARF and CDK4 was used. No germline alterations in any of the tested genes were detected among the families under study. We conclude that in the majority of Ashkenazi Jewish families, the genes tested are unlikely to be implicated in the predisposition to melanoma and associated neural system tumours.

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A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma

Cited by 68 publications

References 0 publications

Cancer incidence in families with multiple glioma patients

Cancer incidence in families with multiple glioma patients

Genetics of melanoma predisposition

Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours

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