Cargando…
CS-12 IDH-1 MUTANT GLIOMA IN BROTHER AND SISTER, ONSET AT AGE OF 30s
A 38-year-old man consulted with our neurosurgery group at University of Fukui hospital, due to tonic-clonic seizures. An MRI revealed a non-enhanced intra-axial tumor at the left frontal lobe. CT showed no calcification in the tumor. The tumor was removed by awake brain surgery. The pathological sp...
Autores principales: | , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213226/ http://dx.doi.org/10.1093/noajnl/vdz039.182 |
_version_ | 1783531757957545984 |
---|---|
author | Kitai, Ryuhei Yamauchi, Takahiro Neishi, Hiroyuki Isozaki, Makoto Tsunetoshi, Kenzo Matsuda, Ken Arishima, Hidetaka Kodera, Toshiaki Kikuta, Ken-ichiro |
author_facet | Kitai, Ryuhei Yamauchi, Takahiro Neishi, Hiroyuki Isozaki, Makoto Tsunetoshi, Kenzo Matsuda, Ken Arishima, Hidetaka Kodera, Toshiaki Kikuta, Ken-ichiro |
author_sort | Kitai, Ryuhei |
collection | PubMed |
description | A 38-year-old man consulted with our neurosurgery group at University of Fukui hospital, due to tonic-clonic seizures. An MRI revealed a non-enhanced intra-axial tumor at the left frontal lobe. CT showed no calcification in the tumor. The tumor was removed by awake brain surgery. The pathological specimen was diagnosed as a diffuse astrocytoma with IDH-mutant. Immunohistochemical staining and DNA sequencing confirmed a R132H mutation at IDH-1. Telomerase Reverse Transcriptase (TERT) promoter mutation and 1p 19q codeletion was not evident. Four years later, his sister, a 40-year-old woman, had an MRI as a routine medical check that found a right frontal tumor at the mirror site of her brother’s tumor, and with identical radiological findings. The tumor was completely removed. The specimen revealed oligodendrocytoma, with mutant IDH and 1p/19q co-deleted. DNA sequencing showed also R132H at IDH-1. TERT promoter mutation was evident at C228T, which is a surrogate marker for oligodendroglioma. IDH-mutant astrocytoma and oligodendroglioma in siblings; and germline mutation of IDH have not been reported. However, the respective incidences of astrocytoma and oligodendroglioma are 0.55/100,000/year and 0.26/100,000/year according to United State statistics, which indicates that merely coincidental occurrence of these tumors is extremely unlikely. A trigger for IDH mutation that runs in rare families could warrant whole-genome sequencing. |
format | Online Article Text |
id | pubmed-7213226 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-72132262020-07-07 CS-12 IDH-1 MUTANT GLIOMA IN BROTHER AND SISTER, ONSET AT AGE OF 30s Kitai, Ryuhei Yamauchi, Takahiro Neishi, Hiroyuki Isozaki, Makoto Tsunetoshi, Kenzo Matsuda, Ken Arishima, Hidetaka Kodera, Toshiaki Kikuta, Ken-ichiro Neurooncol Adv Abstracts A 38-year-old man consulted with our neurosurgery group at University of Fukui hospital, due to tonic-clonic seizures. An MRI revealed a non-enhanced intra-axial tumor at the left frontal lobe. CT showed no calcification in the tumor. The tumor was removed by awake brain surgery. The pathological specimen was diagnosed as a diffuse astrocytoma with IDH-mutant. Immunohistochemical staining and DNA sequencing confirmed a R132H mutation at IDH-1. Telomerase Reverse Transcriptase (TERT) promoter mutation and 1p 19q codeletion was not evident. Four years later, his sister, a 40-year-old woman, had an MRI as a routine medical check that found a right frontal tumor at the mirror site of her brother’s tumor, and with identical radiological findings. The tumor was completely removed. The specimen revealed oligodendrocytoma, with mutant IDH and 1p/19q co-deleted. DNA sequencing showed also R132H at IDH-1. TERT promoter mutation was evident at C228T, which is a surrogate marker for oligodendroglioma. IDH-mutant astrocytoma and oligodendroglioma in siblings; and germline mutation of IDH have not been reported. However, the respective incidences of astrocytoma and oligodendroglioma are 0.55/100,000/year and 0.26/100,000/year according to United State statistics, which indicates that merely coincidental occurrence of these tumors is extremely unlikely. A trigger for IDH mutation that runs in rare families could warrant whole-genome sequencing. Oxford University Press 2019-12-16 /pmc/articles/PMC7213226/ http://dx.doi.org/10.1093/noajnl/vdz039.182 Text en © The Author(s) 2019. Published by Oxford University Press, the Society for Neuro-Oncology and the European Association of Neuro-Oncology. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Abstracts Kitai, Ryuhei Yamauchi, Takahiro Neishi, Hiroyuki Isozaki, Makoto Tsunetoshi, Kenzo Matsuda, Ken Arishima, Hidetaka Kodera, Toshiaki Kikuta, Ken-ichiro CS-12 IDH-1 MUTANT GLIOMA IN BROTHER AND SISTER, ONSET AT AGE OF 30s |
title | CS-12 IDH-1 MUTANT GLIOMA IN BROTHER AND SISTER, ONSET AT AGE OF 30s |
title_full | CS-12 IDH-1 MUTANT GLIOMA IN BROTHER AND SISTER, ONSET AT AGE OF 30s |
title_fullStr | CS-12 IDH-1 MUTANT GLIOMA IN BROTHER AND SISTER, ONSET AT AGE OF 30s |
title_full_unstemmed | CS-12 IDH-1 MUTANT GLIOMA IN BROTHER AND SISTER, ONSET AT AGE OF 30s |
title_short | CS-12 IDH-1 MUTANT GLIOMA IN BROTHER AND SISTER, ONSET AT AGE OF 30s |
title_sort | cs-12 idh-1 mutant glioma in brother and sister, onset at age of 30s |
topic | Abstracts |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213226/ http://dx.doi.org/10.1093/noajnl/vdz039.182 |
work_keys_str_mv | AT kitairyuhei cs12idh1mutantgliomainbrotherandsisteronsetatageof30s AT yamauchitakahiro cs12idh1mutantgliomainbrotherandsisteronsetatageof30s AT neishihiroyuki cs12idh1mutantgliomainbrotherandsisteronsetatageof30s AT isozakimakoto cs12idh1mutantgliomainbrotherandsisteronsetatageof30s AT tsunetoshikenzo cs12idh1mutantgliomainbrotherandsisteronsetatageof30s AT matsudaken cs12idh1mutantgliomainbrotherandsisteronsetatageof30s AT arishimahidetaka cs12idh1mutantgliomainbrotherandsisteronsetatageof30s AT koderatoshiaki cs12idh1mutantgliomainbrotherandsisteronsetatageof30s AT kikutakenichiro cs12idh1mutantgliomainbrotherandsisteronsetatageof30s |