Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations
Nature Genetics 46, 451 (2014).
doi:10.1038/ng.2936
Authors: Pawel Buczkowicz, Christine Hoeman, Patricia Rakopoulos, Sanja Pajovic, Louis Letourneau, Misko Dzamba, Andrew Morrison, Peter Lewis, Eric Bouffet, Ute Bartels, Jennifer Zuccaro, Sameer Agnihotri, Scott Ryall, Mark Barszczyk, Yevgen Chornenkyy, Mathieu Bourgey, Guillaume Bourque, Alexandre Montpetit, Francisco Cordero, Pedro Castelo-Branco, Joshua Mangerel, Uri Tabori, King Ching Ho, Annie Huang, Kathryn R Taylor, Alan Mackay, Anne E Bendel, Javad Nazarian, Jason R Fangusaro, Matthias A Karajannis, David Zagzag, Nicholas K Foreman, Andrew Donson, J...
Source: Nature Genetics - April 6, 2014 Category: Genetics & Stem Cells Authors: Pawel BuczkowiczChristine HoemanPatricia RakopoulosSanja PajovicLouis LetourneauMisko DzambaAndrew MorrisonPeter LewisEric BouffetUte BartelsJennifer ZuccaroSameer AgnihotriScott RyallMark BarszczykYevgen ChornenkyyMathieu BourgeyGuillaume BourqueAlexandr Tags: Letter Source Type: research
The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma
Nature Genetics 46, 444 (2014).
doi:10.1038/ng.2938
Authors:
Pediatric high-grade glioma (HGG) is a devastating disease with a less than 20% survival rate 2 years after diagnosis. We analyzed 127 pediatric HGGs, including diffuse intrinsic pontine gliomas (DIPGs) and non-brainstem HGGs (NBS-HGGs), by whole-genome, whole-exome and/or transcriptome sequencing. We identified recurrent somatic mutations in ACVR1 exclusively in DIPGs (32%), in addition to previously reported frequent somatic mutations in histone H3 genes, TP53 and ATRX, in both DIPGs and NBS-HGGs. Structural variants generating fusion genes were...
Source: Nature Genetics - April 6, 2014 Category: Genetics & Stem Cells Tags: Letter Source Type: research
Central neurogenic hyperventilation and renal tubular acidosis in children with pontine gliomas
Central neurogenic hyperventilation (CNH) is a rare neurologic condition that develops secondary to brainstem involvement. Approximately 35 noncomatose patients with CNH have been reported, including 7 with either a diffuse (patients 2–10 in the table) or focal (patient 1 in the table) brainstem glioma.1–7 Although diffuse intrinsic pontine glioma (DIPG) is the most common pediatric brainstem cancer, only 1 case report described a child with DIPG who experienced CNH.6 (Source: Neurology)
Source: Neurology - March 24, 2014 Category: Neurology Authors: Ledet, D., Delos Santos, N. M., Khan, R., Gajjar, A., Broniscer, A. Tags: All Clinical Neurology, Primary brain tumor, All Pediatric CLINICAL/SCIENTIFIC NOTES Source Type: research
Simultaneous subependymomas in monozygotic female twins: further evidence for a common genetic or developmental disorder background.
Abstract
In this paper, a rare case of subependymoma of the fourth ventricle in identical female twins is reported. Magnetic resonance imaging and CT showed nearly identical locations of the tumors in the fourth ventricle and similar growth patterns of the tumors in both sisters. Likewise, postoperative histopathological analysis of both tumors revealed the typical histological appearance of subependymomas. Subependymoma is a rare, low-grade glioma of the CNS, slowly growing and usually asymptomatic. If symptomatic, a subependymoma can in some cases lead to sudden death caused by pressure on the brainstem ...
Source: Journal of Neurosurgery - March 21, 2014 Category: Neurosurgery Authors: Noell S, Beschorner R, Bisdas S, Beyer U, Weber RG, Fallier-Becker P, Ritz R Tags: J Neurosurg Source Type: research
Brain stem glioma with spinal cord involvement in a young with neurofibromatosis type 1
A 19-year-old man with a family history of neurofibromatosis type 1 (NF 1) admitted with a short history of left-sided paresthesias accompanied by progressive headache and vomiting. Neurologic examination of the patient showed an ataxic gait, left paresthesia, and numbness. Magnetic resonance (MR) imaging showed hyperintense lesions, so-called unidentified bright objects characteristic of NF 1 (A and B). It also revealed a tumor in the lower region of the brain stem (C). Postcontrast T1-weighted MR imaging showed mild enhancement of the mass (D). There was a diffuse spread of the tumor through the foramen magnum from the m...
Source: The Spine Journal - March 10, 2014 Category: Orthopaedics Authors: Hayri Ogul, Mecit Kantarci Tags: Images of Spine Care Source Type: research
Brain stem glioma with spinal cord involvement in a young with neurofibromatosis type 1
(Source: The Spine Journal)
Source: The Spine Journal - March 7, 2014 Category: Orthopaedics Authors: Hayri Ogul, Mecit Kantarci Tags: Images of Spine Care Source Type: research
[Blepharospasm as the presenting symptom of a brain stem glioma].
PMID: 24570363 [PubMed - in process] (Source: Revista de Neurologia)
Source: Revista de Neurologia - February 27, 2014 Category: Neurology Authors: Galvez-Ruiz AL Tags: Rev Neurol Source Type: research
Retrospective analysis of 104 histologically proven adult brainstem gliomas: clinical symptoms, therapeutic approaches and prognostic factors
Conclusion:
Adult brainstem gliomas present with a wide variety of neurological symptoms and postoperative radiation remains the cornerstone of therapy with no proven benefit of adding chemotherapy. Low KPS, age >= 40 and higher tumor grade have a negative impact on overall survival. (Source: BMC Cancer)
Source: BMC Cancer - February 21, 2014 Category: Cancer & Oncology Authors: Thomas ReithmeierAanyo KuzeawuBettina HentschelMarkus LoefflerMichael TrippelGuido Nikkhah Source Type: research
Genetic alterations in paediatric high grade astrocytomas
Abstract: Paediatric high grade astrocytomas (HGA) are diffusely infiltrative and highly aggressive brain tumours that account for nearly 20% of all central nervous system tumours in children. They are classified as anaplastic astrocytoma (WHO grade III) and glioblastoma (WHO grade IV). Grade IV HGAs that are centred in the pons and diffusely involve the brainstem are referred to as Diffuse Intrinsic Pontine Gliomas (DIPGs). This chapter describes some of the most common genetic alterations identified in paediatric HGAs, and focuses on recent findings which underscore the major differences between adult and paediatric HGAs...
Source: Diagnostic Histopathology - February 21, 2014 Category: Pathology Authors: Patricia Rakopoulos, Cynthia Hawkins Tags: Mini-Symposium: Pathology of Paediatric Neoplasms Source Type: research
Vemurafenib‐Induced Neutrophilic Panniculitis in a Child with a Brainstem Glioma
We report a case of neutrophilic panniculitis in a 15‐year‐old girl receiving treatment with vemurafenib for a brainstem glioma. Clinicians should be aware of this rare but important side effect of vemurafenib. This is the first report of neutrophilic panniculitis in a child treated with vemurafenib. (Source: Pediatric Dermatology)
Source: Pediatric Dermatology - January 1, 2014 Category: Dermatology Authors: Emily S. West, Victoria L. Williams, Joseph G. Morelli Tags: Brief Report Source Type: research
“Gliomatosis encephali” as a novel category of brain tumors by the first autopsy case report of gliomatosis cerebelli
Gliomatosis cerebri is a rare diffuse glioma that is neither mass‐forming nor necrotic, and does not disrupt existing structures. Gliomatosis occurring in the cerebellum is known as gliomatosis cerebelli, and only three such cases examined by biopsy have been reported. Here we describe the first autopsy findings of a patient who was diagnosed as having gliomatosis in the cerebellum. Neuropathological examination identified the tumor cells as being positive for glial fibrillary acidic protein, vimentin and nestin, with atypical nuclei that were cashew‐nut‐ or dishcloth‐gourd‐shaped. These tumor cells were dense in...
Source: Neuropathology - December 20, 2013 Category: Neurology Authors: Asa Nakahara, Toshikazu Yoshida, Masanobu Yazawa, Takashi Ehara, Jun Nakayama, Akiyoshi Kakita, Ryosuke Ogura, Mika Asakawa, Emi Suzuki‐Kouyama, Kiyomitsu Oyanagi Tags: CASE REPORT Source Type: research
Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation.
Abstract
Gliomatosis cerebri (GC) is a rare neoplasm in which there is a diffuse cerebral infiltration by malignant glial cells with relative conservation of the underlying structures. A 67-year-old lady was admitted complaining of balance problems, troubled breathing, stuttered speech, decreased mobility, progressive ataxia and also some mild cognitive problems. MRI demonstrated ill defined T2 hyperintensity with mild mass effect mainly involving the brain stem and cerebellar hemispheres, with minor signal abnormalities extending supratentorially along the corticospinal tracts. The imaging appearances wer...
Source: Pathology Oncology Research - December 19, 2013 Category: Pathology Authors: Fernandez-Vega I, Quirk J, Norwood FL, Sibtain NA, Laxton R, Bodi I Tags: Pathol Oncol Res Source Type: research
[Antiangiogenic treatment of pediatric CNS tumors in Hungary with Kieran schedule].
Abstract
In Hungary a new oral antiangiogenic treatment was introduced in cases of primary chemoresistant or recurrent pediatric CNS tumors, called Kieran schedule. The early results of this treatment were analyzed. From 2010 at Semmelweis University on individual decisions a daily combined per oral treatment was introduced in pediatric patients with recurrent or progressive CNS tumor (Kieran schedule: thalidomid, celecoxib, etoposid and cyclophosphamid). Efficacy of therapy was analyzed in terms of demographic data, histology, side effects and tolerability in a retrospective manner. From 2010 through 2013...
Source: Magyar Onkologia - December 18, 2013 Category: Cancer & Oncology Authors: Hauser P, Vancsó I, Pócza T, Schuler D, Garami M Tags: Magy Onkol Source Type: research
Analysis of equivalent uniform dose (EUD) and conventional radiation treatment parameters after primary and re-irradiation of malignant glioma
Conclusions:
This study provides retrospective estimates on cumulative doses at the OARs. EUD values are derived and may serve as reference for further studies, including planning studies where specific constraints are needed. (Source: Radiation Oncology)
Source: Radiation Oncology - December 13, 2013 Category: Cancer & Oncology Authors: Maximilian NiyaziIvan KarinMatthias SöhnSilke NachbichlerPeter LangClaus BelkaUte Ganswindt Source Type: research
Isolated acquired primary gusto-lacrimal reflex from a brainstem glioma
We describe a patient with gusto-lacrimal reflex without other evidence of facial nerve dysfunction from a low-grade glioma infiltrating the brainstem and cerebellum. (Source: Neurology)
Source: Neurology - November 18, 2013 Category: Neurology Authors: Klein, A., Miller, N. R. Tags: Clinical neurology history, Clinical neurology examination, Primary brain tumor, Class I CLINICAL/SCIENTIFIC NOTES Source Type: research
