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A dual genetic alteration (mitochondrial and nuclear DNA): first case in Malaysia detected in glioblastoma multiforme
Abdul Aziz Mohamed Yusoff1, Wan Salihah Wan Abdullah2, Alarmelu Nithya Ramanathan3, Jafri Malin Abdullah4, Zamzuri Idris5.
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.
Affiliation:
- Universiti Sains Malaysia (USM), Kubang Kerian, Kelantan, Malaysia
- Universiti Sains Malaysia (USM), Kubang Kerian, Kelantan, Malaysia
- Universiti Sains Malaysia (USM), Kubang Kerian, Kelantan, Malaysia
- Universiti Sains Malaysia (USM), Kubang Kerian, Kelantan, Malaysia
- Universiti Sains Malaysia (USM), Kubang Kerian, Kelantan, Malaysia
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Indexation |
Indexed by |
MyJurnal (2021) |
H-Index
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3 |
Immediacy Index
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0.000 |
Rank |
0 |
Indexed by |
Scopus 2020 |
Impact Factor
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CiteScore (0.2) |
Rank |
Q4 (Medicine (all)) |
Additional Information |
SJR (0.144) |
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