A Dual Genetic Alteration (Mitochondrial and Nuclear DNA): First Case in Malaysia Detected in Glioblastoma Multiforme
- Author:
Abdul Aziz Mohamed Yusoff
1
;
Wan Salihah Wan Abdullah
1
;
Alarmelu Nithya Ramanathan
1
;
Jafri Malin Abdullah
1
;
Zamzuri Idris
1
Author Information
- Publication Type:Case Reports
- Keywords: Glioblastoma multiforme, 4977-bp mtDNA deletion, IDH1 (R132H) mutation, Double alteration
- From:Malaysian Journal of Medicine and Health Sciences 2020;16(No.2):332-335
- CountryMalaysia
- Language:English
- 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.
- Full text:11.2020my0689.pdf
