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2014 Fiscal Year Final Research Report

Telomere elongation mechanisms by ATRX/DRXX gene alterations and their clinical application

Research Project

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Project/Area Number 25861670
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatric surgery
Research InstitutionHiroshima University

Principal Investigator

ONITAKE Yoshiyuki  広島大学, 大学病院, 病院助教 (10448269)

Project Period (FY) 2013-04-01 – 2015-03-31
Keywords神経芽腫 / テロメア / ATRX / DRXX / 伸長 / 変異 / 悪性度 / 予後
Outline of Final Research Achievements

In neuroblastomas with elongated telomeres by ALT (alaternative lengthening of telomere) mechanism, telomere signals by FISH were heterogeneous. In these 24 tumors, 16 had ATRX mutations, 6 had ATRX deletions, and the remaining 2 had DRXX mutations. Clinically, the children with such tumors were advanced stage ones without MYCN amplification except for one case. These tumor showed chemotherapeutic resistant and poor outcome significantly. Such ALT activated neuroblastoma is rare but a discriminate tumor group with poor prognosis.

Free Research Field

小児外科学

URL: 

Published: 2016-06-03  

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