Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria

Zoltan Patay, Brent A. Orr, Barry L. Shulkin, Scott N. Hwang, Yuan Ying, Alberto Broniscer, Frederick Boop, David W. Ellison

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Patients with L-2-hydroxyglutaric aciduria are at risk for developing cerebral neoplasms, particularly gliomas, as one of the optical isomers of the known oncometabolite, 2-hydroxyglutarate is produced in L-2-hydroxyglutaric aciduria. To illustrate the concept of sustained oncogenic potential in permanent exposure to L-2-hydroxyglutarate in brain tissue, we present the medical history of a patient with L-2-hydroxyglutaric aciduria who underwent surgery to remove a right temporal anaplastic astrocytoma and developed an anatomically distinct, but histopathologically similar, tumor in the left frontal region 40 months later. This is the first reported case of successive distinct gliomas in a patient with L-2-hydroxyglutaric aciduria. While this implies a significant, cumulative lifetime risk for cerebral neoplasms in patients with this rare organic aciduria, it also allows further insight into a unique mechanism of tumorigenesis in the brain.

Original languageEnglish (US)
Pages (from-to)273-277
Number of pages5
JournalJournal of Inherited Metabolic Disease
Volume38
Issue number2
DOIs
StatePublished - Mar 1 2015

Fingerprint

Glioma
Neoplasms
Astrocytoma
Brain
Carcinogenesis
History
2-Hydroxyglutaricaciduria
alpha-hydroxyglutarate

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Patay, Z., Orr, B. A., Shulkin, B. L., Hwang, S. N., Ying, Y., Broniscer, A., ... Ellison, D. W. (2015). Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria. Journal of Inherited Metabolic Disease, 38(2), 273-277. https://doi.org/10.1007/s10545-014-9782-8

Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria. / Patay, Zoltan; Orr, Brent A.; Shulkin, Barry L.; Hwang, Scott N.; Ying, Yuan; Broniscer, Alberto; Boop, Frederick; Ellison, David W.

In: Journal of Inherited Metabolic Disease, Vol. 38, No. 2, 01.03.2015, p. 273-277.

Research output: Contribution to journalArticle

Patay, Z, Orr, BA, Shulkin, BL, Hwang, SN, Ying, Y, Broniscer, A, Boop, F & Ellison, DW 2015, 'Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria', Journal of Inherited Metabolic Disease, vol. 38, no. 2, pp. 273-277. https://doi.org/10.1007/s10545-014-9782-8
Patay, Zoltan ; Orr, Brent A. ; Shulkin, Barry L. ; Hwang, Scott N. ; Ying, Yuan ; Broniscer, Alberto ; Boop, Frederick ; Ellison, David W. / Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria. In: Journal of Inherited Metabolic Disease. 2015 ; Vol. 38, No. 2. pp. 273-277.
@article{afeb5748a5af464f81f6be43c390fa66,
title = "Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria",
abstract = "Patients with L-2-hydroxyglutaric aciduria are at risk for developing cerebral neoplasms, particularly gliomas, as one of the optical isomers of the known oncometabolite, 2-hydroxyglutarate is produced in L-2-hydroxyglutaric aciduria. To illustrate the concept of sustained oncogenic potential in permanent exposure to L-2-hydroxyglutarate in brain tissue, we present the medical history of a patient with L-2-hydroxyglutaric aciduria who underwent surgery to remove a right temporal anaplastic astrocytoma and developed an anatomically distinct, but histopathologically similar, tumor in the left frontal region 40 months later. This is the first reported case of successive distinct gliomas in a patient with L-2-hydroxyglutaric aciduria. While this implies a significant, cumulative lifetime risk for cerebral neoplasms in patients with this rare organic aciduria, it also allows further insight into a unique mechanism of tumorigenesis in the brain.",
author = "Zoltan Patay and Orr, {Brent A.} and Shulkin, {Barry L.} and Hwang, {Scott N.} and Yuan Ying and Alberto Broniscer and Frederick Boop and Ellison, {David W.}",
year = "2015",
month = "3",
day = "1",
doi = "10.1007/s10545-014-9782-8",
language = "English (US)",
volume = "38",
pages = "273--277",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "2",

}

TY - JOUR

T1 - Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria

AU - Patay, Zoltan

AU - Orr, Brent A.

AU - Shulkin, Barry L.

AU - Hwang, Scott N.

AU - Ying, Yuan

AU - Broniscer, Alberto

AU - Boop, Frederick

AU - Ellison, David W.

PY - 2015/3/1

Y1 - 2015/3/1

N2 - Patients with L-2-hydroxyglutaric aciduria are at risk for developing cerebral neoplasms, particularly gliomas, as one of the optical isomers of the known oncometabolite, 2-hydroxyglutarate is produced in L-2-hydroxyglutaric aciduria. To illustrate the concept of sustained oncogenic potential in permanent exposure to L-2-hydroxyglutarate in brain tissue, we present the medical history of a patient with L-2-hydroxyglutaric aciduria who underwent surgery to remove a right temporal anaplastic astrocytoma and developed an anatomically distinct, but histopathologically similar, tumor in the left frontal region 40 months later. This is the first reported case of successive distinct gliomas in a patient with L-2-hydroxyglutaric aciduria. While this implies a significant, cumulative lifetime risk for cerebral neoplasms in patients with this rare organic aciduria, it also allows further insight into a unique mechanism of tumorigenesis in the brain.

AB - Patients with L-2-hydroxyglutaric aciduria are at risk for developing cerebral neoplasms, particularly gliomas, as one of the optical isomers of the known oncometabolite, 2-hydroxyglutarate is produced in L-2-hydroxyglutaric aciduria. To illustrate the concept of sustained oncogenic potential in permanent exposure to L-2-hydroxyglutarate in brain tissue, we present the medical history of a patient with L-2-hydroxyglutaric aciduria who underwent surgery to remove a right temporal anaplastic astrocytoma and developed an anatomically distinct, but histopathologically similar, tumor in the left frontal region 40 months later. This is the first reported case of successive distinct gliomas in a patient with L-2-hydroxyglutaric aciduria. While this implies a significant, cumulative lifetime risk for cerebral neoplasms in patients with this rare organic aciduria, it also allows further insight into a unique mechanism of tumorigenesis in the brain.

UR - http://www.scopus.com/inward/record.url?scp=84925494546&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84925494546&partnerID=8YFLogxK

U2 - 10.1007/s10545-014-9782-8

DO - 10.1007/s10545-014-9782-8

M3 - Article

VL - 38

SP - 273

EP - 277

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 2

ER -