A Dual Genetic Alteration (Mitochondrial and Nuclear DNA): First Case in Malaysia Detected in Glioblastoma Multiforme
Malaysian Journal of Medicine and Health Sciences
;
: 332-335, 2020.
Artigo
em Inglês
| WPRIM
| ID: wpr-829946
ABSTRACT
@#Although the precise etiology of Glioblastoma multiforme (GBM, WHO grade IV) remains unknown, its progression is believed to be driven by the accumulation of multiple genetic alterations. Here, we report a case of a patient who developed GBM, and associated with dual alterations, particularly 4977-bp deletion in mtDNA (mtDNA4977) and p.Arg132His (R132H) mutation in IDH1. A 35-year old Malaysian woman patient who primary diagnosed with astrocytoma WHO grade I and subsequently after four years developed a GBM, was detected with a mtDNA4977. This deletion appears to be a sporadic mutation. Additionally, analysis of patient’s tumor tissue also found to harbor a heterozygous IDH1 R132H mutation. This represents the first case report of coexisting mtDNA4977 together with IDH1 R132H mutation in a Malaysian patient of GBM. The findings of dual alterations could be of therapeutic benefit if these alterations were justified to be contributing to GBM growth and aggressiveness.
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Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Inglês
Revista:
Malaysian Journal of Medicine and Health Sciences
Ano de publicação:
2020
Tipo de documento:
Artigo
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