Clinical and biological significance of granulocyte colony stimulating factor receptor gene abnormalities those found in severe congenital neutropenia.

2015 Fiscal Year Final Research Report

• Project/Area Number: 24591539
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Yamagata University
• Principal Investigator: Mitsui Tetsuo 山形大学, 医学部, 教授 (30270846)
• Co-Investigator(Kenkyū-buntansha): KAWAKAMI TAKAKO 山形大学, 医学部, 助教 (90312743) ; HAYASAKA KIYOSHI 山形大学, 医学部, 教授 (20142961)
• Project Period (FY): 2012-04-01 – 2016-03-31
• Keywords: 先天性好中球減少症 / CSF3R / G-CSF受容体 / 切断型遺伝子変異 / 白血病化

Outline of Final Research Achievements

We conducted sequential granulocyte colony stimulating factor (CSF3) receptor gene analysis of patients with severe congenital neutropenia. No mutation was found in CSF3R gene during study period. Some genes for proteins of signal transduction of CSF3R were also analyzed and also found no abnormality. During study period no patient progressed to myelodysplasia or myeloid leukemia.
Prospective analysis toward severe congenital neutropenia is seemed to be difficult. It is rare disease and the patients tend to receive blood cell transplant in their clinical course before progression to leukemia. New approach should be arranged to define the mechanism of leukemogenesis of this disease.

Free Research Field

小児血液、小児がん