Secondary meningioma in a long-term survivor of atypical teratoid/rhabdoid tumour with a germline INI1 mutation

Ammerlaan, Anneke C.J.; Houben, M. P. W. A.; Tijssen, Cees; Wesseling, Pieter; Hulsebos, Theo J.M.

doi:10.1007/s00381-007-0578-0

Cited by 12 publications

(5 citation statements)

References 12 publications

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“…1). Secondly, as germline hSNF5/INI1 mutation is known to predispose not only to early aggressive RTs with rapid fatal outcome but also to late-onset indolent multiple schwannomas (21)(22)(23)(24)(25)(26)(27) and meningiomas (21,28), predicting the outcome of a mutation carrier seems somewhat hazardous. Indeed, different tumor types may selectively affect the members of a family carrying the same mutation in a so far unpredictable manner (26).…”

Section: Discussionmentioning

confidence: 99%

Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor

Bourdeaut

Lequin

Brugières

et al. 2011

Clinical Cancer Research

197

153

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Purpose: Germline hSNF5/INI1 mutations are responsible for hereditary cases of rhabdoid tumors (RT) that constitute the rhabdoid predisposition syndrome (RPS). Our study provides the first precise overview of the prevalence of RPS within a large cohort of RT.Experimental Design: hSNF5/INI1 coding exons were investigated by sequencing and by multiplex ligation-dependent probe amplification.Results: Seventy-four constitutional DNAs from 115 apparently sporadic RT were analyzed from 1999 to 2009. Germline mutations were found in 26 patients (35%). Data from 9 individuals from 5 RPS families (siblings) were also studied. The median age at diagnosis was much lower (6 months) in patients with germline mutation (P < 0.01) than in patients without (18 months). Nevertheless, 7 of 35 patients with germline mutation (20%) developed the disease after 2 years of age. The mutation could be detected in only 1 parent whereas germline blood DNA was wild type in the 20 other parent pairs, therefore indicating the very high proportion of germ-cell mosaicism or of de novo mutations in RPS. The former hypothesis could be clearly documented in 1 case in which prenatal diagnosis was positive in a new pregnancy. Finally, the 2 years' overall survival was 7% in mutated and 29% in wild-type patients, mainly due to the worse outcome of RT in younger patients.Conclusions: Our results show a high proportion of germline mutations in patients with RT that can be found at any age and up to 60% in the youngest patients. Genetic counseling is recommended given the low but actual risk of familial recurrence.

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Section: Discussionmentioning

confidence: 99%

Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor

Bourdeaut

Lequin

Brugières

et al. 2011

Clinical Cancer Research

197

153

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“…13,15,42,85 Germline INI1 mutations also predispose to late-onset indolent schwannomatosis and meningiomas. 2,4,7,16,58,66,67,131 Schwannomas in patients with either familial or sporadic schwannomatosis show a "mosaic" pattern of INI1 protein loss by immunohistochemistry (Fig. 2).…”

Section: Cytogenetics and Molecular Genetic Datamentioning

confidence: 99%

INI1-Deficient Tumors

Hollmann

Hornick

2011

American Journal of Surgical Pathology

378

122

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Significant progress has been made in understanding the molecular genetic alterations involved in sarcomagenesis. Cytogenetic and molecular studies have identified nonrandom genetic abnormalities, including tumor suppressor gene inactivation. Mutations, deletions, and other somatic alterations in the tumor suppressor gene INI1 (hSNF5; SMARCB1), which encodes a subunit of the SWI/SNF chromatin remodeling complex, were first described in the malignant rhabdoid tumor of infancy. Since then, INI1 has also been implicated in the pathogenesis of additional tumor types including renal medullary carcinomas and epithelioid sarcomas and a subset of epithelioid malignant peripheral nerve sheath tumors, myoepithelial carcinomas, and extraskeletal myxoid chondrosarcomas. As varied as this group appears, they all show loss of INI1 protein expression, a propensity for rhabdoid cytomorphology, and sometimes other overlapping immunohistochemical and histologic findings. We will review the clinicopathologic features of these tumor types and emphasize the clinical utility of INI1 immunohistochemistry in differential diagnosis.

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“…At the gene level, the mutational profile of meningiomas has been dominated by reports of inactivating NF2 mutations which occur in 33% to 50% of monosomic 22 tumors (27) on the retained allele. Three percent of meningiomas appear to harbor the identical mutation in exon 9 of INI1 (2). Candidate tumor suppressor genes have been studied including DAL-1, BAM22, MN1 and LARGE (29), but no mutations have been identified (9,14,24,25,30).…”

Section: Introductionmentioning

confidence: 99%

Genomic Landscape of Meningiomas

et al. 2010

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Meningiomas are one of the most common adult brain tumors. For most patients, surgical excision is curative. However, up to 20% recur. Currently, the molecular determinants predicting recurrence and malignant transformation are lacking. We performed retrospective global genetic and genomic analysis of 85 meningioma samples of various grades. Copy number alterations were assessed by 100K SNP arrays and correlated with gene expression, proliferation indices, and clinical outcome. In addition to chromosome 22q loss, which was detected in the majority of clinical samples, chromosome 6q and 14q loss was significantly more common in recurrent tumors and was associated with anaplastic histology. Five "classes" of meningiomas were detected by gene expression analysis that correlated with copy number alterations, recurrent status, and malignant histology. These classes more accurately identified recurrent tumors relative to Ki-67 index and extent of surgical resection, and highlight substantial expression heterogeneity between meningiomas. These data offer the most complete description of the genomic landscape of meningiomas and provide broad genomic information that may be used to further stratify meningioma patients into prognostic risk groups.

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Secondary meningioma in a long-term survivor of atypical teratoid/rhabdoid tumour with a germline INI1 mutation

Cited by 12 publications

References 12 publications

Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor

Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor

INI1-Deficient Tumors

Genomic Landscape of Meningiomas

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