Multiple Primary Intracranial Tumors in von Recklinghausen's Neurofibromatosis

Rodríguez, Héctor Alejandro Céspedes; Berthrong, M

doi:10.1001/archneur.1966.00470110011002

Cited by 118 publications

(40 citation statements)

References 31 publications

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“…In most hereditary syndromes that are known to predispose to gliomas, specific glioma subtypes are regarded as characteristic hallmarks. 14,17,19,20 This might be true of our study also, as stratification of the families resulted in different patterns of primary cancers for members of early-and late-onset glioma families.…”

Section: Discussionmentioning

confidence: 74%

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: 74%

Cancer incidence in families with multiple glioma patients

Paunu

Pukkala

Laippala

et al. 2001

Intl Journal of Cancer

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“…There is an increasing susceptibility to gliomas in patients with neurofibromatosis type 2 (NF2), the gene for which, NF2, is at 22q12 (Wiestler et al, 2000). Most gliomas in NF2 (80%) are ependymomas, and three quarters of NF2 gliomas are spinal (Rodriguez and Berthrong, 1966). Mutations in the NF2 gene are uncommon in sporadic ependymomas (von Haken et al, 1996), and appear to be restricted to spinal tumours.…”

Section: Genetics and Genomicsmentioning

confidence: 99%

Genetic abnormalities detected in ependymomas by comparative genomic hybridisation

et al. 2002

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Using comparative genomic hybridisation, we have analysed genetic imbalance in a series of 86 ependymomas from children and adults. Tumours were derived from intracranial and spinal sites, and classified histologically as classic, anaplastic or myxopapillary. Ependymomas showing a balanced profile were significantly (P50.0005) more frequent in children than adults. Profiles suggesting intermediate ploidy were common (44% of all tumours), and found more often (P50.0005) in tumours from adults and the spinal region. Loss of 22q was the most common specific abnormality, occurring in 50% of spinal (medullary) ependymomas and 26% of tumours overall. Genetic profiles combining loss of 22q with other specific abnormalities -gain of 1q, loss of 6q, loss of 10q/10, loss of 13, loss of 14q/14 -varied according to site and histology. In particular, we showed that classic ependymomas from within the cranium and spine have distinct genetic profiles. Classic and anaplastic ependymomas with gain of 1q tended to occur in the posterior fossa of children and to behave aggressively. Our extensive data on ependymomas demonstrate significant associations between genetic aberrations and clinicopathological variables, and represent a starting point for further biological and clinical studies.

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“…3 Forty of the patients had bilateral acoustic neuromas, and only 5 of these had intraventricular meningiomas. Neurilemoma of the peripheral nerves was not reported in any of these 49 cases.…”

Section: Discussionmentioning

confidence: 97%

“…In a review of medical literature dating back to 1822, Rodriguez and Berthrong (1966) found 48 cases and added one case of their own of neurofibromatosis with acoustic neurinoma and multiple intracranial and/or intraspinal meningiomas. 3 Forty of the patients had bilateral acoustic neuromas, and only 5 of these had intraventricular meningiomas.…”

Section: Discussionmentioning

confidence: 99%

“…3 Peripheral nerve tumors are usually neurofibromas, but schwannomas (neurilemomas) are rare. 2 We are reporting a patient with von Recklinghausen's disease who presented with bilateral auditory and visual impairment and who was found to have bilateral acoustic neuromas, a parietal and a suprasellar meningioma, bilateral intraventricular meningiomas, and multiple neurilemomas of the intercostal nerves.…”

Section: Introductionmentioning

confidence: 99%

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