Comprehensive genetic analysis of pediatric acute myeloid leukemia

2014 Fiscal Year Final Research Report

• Project/Area Number: 25893028
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Hematology
• Research Institution: Gunma University
• Principal Investigator: SHIBA NORIO 群馬大学, 医学部附属病院, 助教 (50600615)
• Project Period (FY): 2013-08-30 – 2015-03-31
• Keywords: PRDM16 / AML / 小児 / FLT3-ITD

Outline of Final Research Achievements

The genetic alterations responsible for adverse outcomes in patients with pediatric acute myeloid leukemia (AML) remain obscure. Recent reports described NUP98-NSD1 fusion as an adverse AML prognostic marker and PRDM16 (also known as MEL1) as the representative overexpressed gene in patients harboring NUP98-NSD1 fusion. In 369 pediatric patients with de novo AML from the Japanese AML-05 clinical trial, PRDM16 gene expression levels were measured via real-time PCR, and correlations between these and other genetic alterations were investigated to clarify the clinical significance and prognostic impact. Overall, 84 of 369 patients (23%) exhibited PRDM16 overexpression. The overall (OS) and event-free survival (EFS) among PRDM16-overexpressing patients were significantly worse than those among patients with low PRDM16 expression irrespective of other cytogenetic alterations except for NPM1. PRDM16 gene expression was especially useful for stratifying FLT3-ITD-positive patients with AML.

Free Research Field

急性骨髄性白血病