Acquisition of i(8q) as an early event in malignant triton tumors

Magrini, Elisabetta; Pragliola, Antonella; Fantasia, Donatella; Calabrese, G; Gaiba, Alessia; Farnedi, Anna; Collina, Guido; Pession, Annalisa

doi:10.1016/j.cancergencyto.2004.02.007

Cited by 17 publications

(10 citation statements)

References 14 publications

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“…In addition, these regions are syntenic with human chromosome 8q22-23. Human chromosome 8q has been found to be amplified in MPNSTs (27,28); a translocation between chromosome 5q11 and chromosome 8q22 (29) and a translocation between chromosome 5q13 and chromosome 8q23 (30) have been reported in MPNST; and amplification of chromosome 8q22 has been observed in an MPNST (31). Whereas these alterations are not common events in human MPNSTs, as might be expected for alterations in a highly penetrant tumor suppressor gene or oncogene, they are consistent with the presence of a low-penetrance polymorphic modifier gene.…”

Section: Resultsmentioning

confidence: 99%

An Imprinted Locus Epistatically Influences Nstr1 and Nstr2 to Control Resistance to Nerve Sheath Tumors in a Neurofibromatosis Type 1 Mouse Model

et al. 2006

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Cancer is a complex disease in which cells acquire many genetic and epigenetic alterations. We have examined how three types of alterations, mutations in tumor suppressor genes, changes in an imprinted locus, and polymorphic loci, interact to affect tumor susceptibility in a mouse model of neurofibromatosis type 1 (NF1). Mutations in tumor suppressor genes such as TP53 and in oncogenes such as KRAS have major effects on tumorigenesis due to the central roles of these genes in cell proliferation and cell survival. Imprinted genes expressed from only one parental chromosome affect tumorigenesis if their monoallelic expression is lost or duplicated. Because imprinted loci are within regions deleted or amplified in cancer, the parental origin of genomic rearrangements could affect tumorigenesis. Gene polymorphisms can vary tumor incidence by affecting rate-limiting steps in tumorigenesis within tumor cells or surrounding stroma. In our mouse model of NF1, the incidence of tumors mutant for the tumor suppressor genes Nf1 and Trp53 is strongly modified by a linked imprinted locus acting epistatically on two unlinked polymorphic loci, Nstr1 and Nstr2. This interaction of an imprinted locus and polymorphic susceptibility loci has profound implications for human mapping studies where the parental contribution of alleles is often unknown. (Cancer Res 2006; 66(1): 62-8)

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Section: Resultsmentioning

confidence: 99%

An Imprinted Locus Epistatically Influences Nstr1 and Nstr2 to Control Resistance to Nerve Sheath Tumors in a Neurofibromatosis Type 1 Mouse Model

et al. 2006

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“…To the best of our knowledge only seven cases of MTT have been karyotyped previously and none have been analysed by CGH. Most of them showed rather complex cytogenetic deviations, although some genetic aberrations appear to be common [4][5][6][7][8][9].…”

Section: Discussionmentioning

confidence: 97%

“…The histogenesis of this unusual, composite, highly malignant neoplasm is unclear. The few available cytogenetic studies on MTT described the numerical and structural aberrations involving the chromosomes 1, 6,7,8,9,12,16,17,19, and 22 [4][5][6][7][8][9]. Hereby we introduce a 39-year-old male patient without recognised NF1, presenting a MTT and describe the Wndings of the comparative genomic hybridisation (CGH) analysis.…”

Section: Geneticsmentioning

confidence: 94%

Cytogenetic analysis of a malignant triton tumour by comparative genomic hybridization (CGH) and review of the literature

Koutsimpelas

Brieger

Heinrich

et al. 2011

Eur Arch Otorhinolaryngol

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Malignant triton tumour (MTT) is a rare, highly malignant neoplasm, characterized by a mixture of cells with nerve sheath and skeletal muscle differentiation. Cytogenetic analyses of this neoplasm are rare to date and none comparative genomic hybridisation (CGH) analysis has been published. In the present study we report about the genomic imbalances of a MMT analysed by CGH, in a 39-year-old male patient without neurofibromatosis. We observed the amplifications at chromosomal location 1p, 6p, 16p, 16q, 17p, 17q, 19p, 19q, 20p, and 22q. Comparing our results with those of previous studies, we found evidence for recurrent genomic aberrations at the chromosomes 1, 16, 17, 19, and 22 suggesting the involvement of several oncogenes in the genesis of MTT.

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“…Most of them showed rather complex cytogenetic deviations, although some genetic aberrations appear to be common [20-25]. Koutsimpelas et al firstly analyzed the genomic imbalance of a case of MTT using comparative genomic hybridization (CGH) [26].…”

Section: Case Presentationmentioning

confidence: 99%

A rare case of malignant triton tumor in the cerebellopontine angle

et al. 2012

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Malignant triton tumor (MTT) is defined as malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Intracranial MTT is extremely rare, and only four cases have been reported in the literature. Here, we report a case of MTT occurring in the cerebellopontine angle, and describe its histopathological characteristics, immunohistochemical features, and prognosis.Virtual slidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1336227313684480

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Acquisition of i(8q) as an early event in malignant triton tumors

Cited by 17 publications

References 14 publications

An Imprinted Locus Epistatically Influences Nstr1 and Nstr2 to Control Resistance to Nerve Sheath Tumors in a Neurofibromatosis Type 1 Mouse Model

An Imprinted Locus Epistatically Influences Nstr1 and Nstr2 to Control Resistance to Nerve Sheath Tumors in a Neurofibromatosis Type 1 Mouse Model

Cytogenetic analysis of a malignant triton tumour by comparative genomic hybridization (CGH) and review of the literature

A rare case of malignant triton tumor in the cerebellopontine angle

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