Whole genome sequencing of the T-cell acute lymhoblastic leukemia derived from familial platele disorders

2015 Fiscal Year Final Research Report

• Project/Area Number: 26860788
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: University of Yamanashi
• Principal Investigator: WATANABE Atsushi 山梨大学, 総合研究部, 診療助教 (30610498)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 次世代シーケンサー / 家族性血小板減少症 / T細胞型急性リンパ性白血病

Outline of Final Research Achievements

We performed whole genome sequencing of the patient of T-cell acute lymphoblastic leukemia derived from familial platelet disorder. Comparing he and his sister having thrombocytopenia without leukemia with his healthy father, 785 genes with SNPs and 15 genes with indels were found. There was no RUNX1 mutation, known as the cause of familial platelet disorder which develops to leukemia, but SETBP1, whose over-expression mutation was reported to suppress RUNX1 function, had an indel and two SNPs. Moreover, comparing his normal lymphocytes and his leukemic cells, 150 genes with SNPs and 14 genes with indels were found. These mutations might have relation to leukemogenesis. Especially, MTCH2 gene coding mitochondrial transport protein which is important for apoptosis had the aggregation of mutations. These genetical findings might be new insights to understand leukemogenesis and familial platelet disorder.

Free Research Field

小児血液腫瘍