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Your search keyword '"Gardiman, M P"' showing total 3 results
Start Over Author "Gardiman, M P" Topic brain neoplasms
3 results on '"Gardiman, M P"'

1. Concomitant IDH wild-type glioblastoma and IDH1-mutant anaplastic astrocytoma in a patient with constitutional mismatch repair deficiency syndrome.

Author

Galuppini F, Opocher E, Tabori U, Mammi I, Edwards M, Campbell B, Kelly J, Viel A, Quaia M, Rivieri F, D'Avella D, Arcella A, Giangaspero F, Fassan M, and Gardiman MP

Subjects
Astrocytoma complications, Astrocytoma genetics, Brain Neoplasms complications, Brain Neoplasms genetics, Cerebellar Neoplasms complications, Cerebellar Neoplasms genetics, Child, Colorectal Neoplasms complications, Colorectal Neoplasms genetics, Female, Glioblastoma complications, Glioblastoma genetics, Humans, Mutation, Neoplasms, Multiple Primary complications, Neoplasms, Multiple Primary genetics, Neoplastic Syndromes, Hereditary complications, Neoplastic Syndromes, Hereditary genetics, Astrocytoma pathology, Brain Neoplasms pathology, Cerebellar Neoplasms pathology, Colorectal Neoplasms pathology, Glioblastoma pathology, Isocitrate Dehydrogenase genetics, Neoplasms, Multiple Primary pathology, Neoplastic Syndromes, Hereditary pathology
Published
2018
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2. TP53, β-Catenin and c-myc/N-myc status in embryonal tumours with ependymoblastic rosettes.

Author

Gessi M, Zur Muehlen A, Lauriola L, Gardiman MP, Giangaspero F, and Pietsch T

Subjects
Brain Neoplasms pathology, Child, Child, Preschool, Female, Gene Amplification, Humans, Infant, Male, Neoplasms, Germ Cell and Embryonal pathology, Point Mutation, Polymorphism, Single-Stranded Conformational, Reverse Transcriptase Polymerase Chain Reaction, Brain Neoplasms genetics, Neoplasms, Germ Cell and Embryonal genetics, Proto-Oncogene Proteins c-myc genetics, Tumor Suppressor Protein p53 genetics, beta Catenin genetics
Abstract

Background: The primitive neuroectodermal tumours of central nervous system (CNS-PNET) are a heterogeneous group of neoplasms, occurring in the CNS and composed of undifferentiated or poorly differentiated neuroepithelial cells which may display divergent differentiation along neuronal, astrocytic and ependymal lines. The WHO classification includes in this group of tumours also ependymoblastomas and medulloepitheliomas. Several groups have reported examples of CNS-PNET with combined histological features of ependymoblastoma and neuroblastoma, defined as 'embryonal tumour with abundant neuropil and true rosettes'. The presence of the amplification of chromosome region 19q13.42, common in both ependymoblastoma and embryonal tumour with abundant neuropil and true rosettes, suggests that they represent a histological spectrum of a single biological entity., Methods: We examined 24 cases of ependymoblastoma/embryonal tumour with abundant neuropil and true rosettes (EPBL/ETANTR) for the presence of mutations of TP53 and β-Catenin and for amplification of c-myc/N-myc., Results: The single strand conformation polymorphism-mutational screening did not identify any mutation in exons 5 to 8 of the TP53 gene. However, we found a point mutation affecting codon 34 (GGA → GTA) of β-Catenin gene resulting in a Glycine → Valine substitution. No cases presented c-myc/N-myc amplification., Conclusions: EPBL/ETANTRs show molecular features different from other CNS-PNET and medulloblastomas. The presence of alterations in the β-Catenin/WNT pathway seems to be noteworthy due to the close relationship between this pathway and miR-520g encoded in chromosome 19q13.42 region amplified in these tumours., (© 2011 The Authors. Neuropathology and Applied Neurobiology © 2011 British Neuropathological Society.)

Published
2011
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3. TP53, B-Catenin and c-myc/N-myc status in embryonal tumours with ependymoblastic rosettes

Author

Gessi, M., Zur Muehlen, A., Lauriola, L., Gardiman, M. P., Giangaspero, Felice, and Pietsch, T.

Subjects
Male, Settore MED/08 - ANATOMIA PATOLOGICA, Brain Neoplasms, Reverse Transcriptase Polymerase Chain Reaction, cns-pnet, Gene Amplification, Infant, β-catenin, c-myc/n-myc, tp53, embryonal tumour with abundant neuropil and true rosettes, ependymoblastoma, Neoplasms, Germ Cell and Embryonal, Proto-Oncogene Proteins c-myc, Child, Preschool, Humans, Point Mutation, Female, Tumor Suppressor Protein p53, Child, Polymorphism, Single-Stranded Conformational, beta Catenin
Abstract

The primitive neuroectodermal tumours of central nervous system (CNS-PNET) are a heterogeneous group of neoplasms, occurring in the CNS and composed of undifferentiated or poorly differentiated neuroepithelial cells which may display divergent differentiation along neuronal, astrocytic and ependymal lines. The WHO classification includes in this group of tumours also ependymoblastomas and medulloepitheliomas. Several groups have reported examples of CNS-PNET with combined histological features of ependymoblastoma and neuroblastoma, defined as 'embryonal tumour with abundant neuropil and true rosettes'. The presence of the amplification of chromosome region 19q13.42, common in both ependymoblastoma and embryonal tumour with abundant neuropil and true rosettes, suggests that they represent a histological spectrum of a single biological entity.We examined 24 cases of ependymoblastoma/embryonal tumour with abundant neuropil and true rosettes (EPBL/ETANTR) for the presence of mutations of TP53 and β-Catenin and for amplification of c-myc/N-myc.The single strand conformation polymorphism-mutational screening did not identify any mutation in exons 5 to 8 of the TP53 gene. However, we found a point mutation affecting codon 34 (GGA → GTA) of β-Catenin gene resulting in a Glycine → Valine substitution. No cases presented c-myc/N-myc amplification.EPBL/ETANTRs show molecular features different from other CNS-PNET and medulloblastomas. The presence of alterations in the β-Catenin/WNT pathway seems to be noteworthy due to the close relationship between this pathway and miR-520g encoded in chromosome 19q13.42 region amplified in these tumours.

Published
2011

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