neuroectodermal tumors primitive/arginine

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Clinical and Endocrinological findings in ectopic pinealoma and spongioblastoma of the hypothalamus.

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Prijava / prijava

Cystic spongioblastoma and ectopic pinealoma occurring simultaneously were found in a 16-year-old male patient, and produced destruction of the hypothalamus. The clinical course extended for over four years. The clinical picture was characterized by a defect of osmo- and thermoregulation and by

H3.3 G34R mutations in pediatric primitive neuroectodermal tumors of central nervous system (CNS-PNET) and pediatric glioblastomas: possible diagnostic and therapeutic implications?

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Prijava / prijava

Pediatric glioblastomas recently have been exon sequenced with evidence that approximately 30 % of cases harbour mutations of the histone H3.3 gene. Although studies to determinate their role in risk stratification are on-going, it remains to be determined whether H3.3 mutations could be found in

Primitive neuroectodermal tumors of the cerebral hemispheres in two siblings with TP53 germline mutation.

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Prijava / prijava

AWe report on two siblings (brother and sister) who developed cerebral PNETs at the age of 5 years and 6 months, respectively. Both children were treated by operation followed by polychemotherapy. The brother also received cranio-spinal irradiation. Nevertheless, the children died about 12 months

Transcriptional down-regulation through nuclear exclusion of EWS methylated by PRMT1.

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Prijava / prijava

The EWS gene is known to be chromosomally translocated and fused to various members of the DNA-binding transcription factors in Ewing's sarcoma and primitive neuroectodermal tumor. The product of this gene encodes the N-terminal transcriptional activation domain and the C-terminal RNA-binding domain

PMS2 mutations in childhood cancer.

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Prijava / prijava

Until recently, the PMS2 DNA mismatch repair gene has only rarely been implicated as a cancer susceptibility locus. New studies have shown, however, that earlier analyses of this gene have had technical limitations and also that the genetic behavior of mutant PMS2 alleles is unusual, in that, unlike

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