Comprehensive analysis of somatic and germline genomic alterations for atypical leukemia in children
| Project/Area Number |
17H04234
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (B)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | National Center for Child Health and Development |
|---|
Principal Investigator |
Kato Motohiro 国立研究開発法人国立成育医療研究センター, 小児血液・腫瘍研究部, 診療部長 (40708690)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
中林 一彦 国立研究開発法人国立成育医療研究センター, 周産期病態研究部, 室長 (10415557)
内山 徹 国立研究開発法人国立成育医療研究センター, 成育遺伝研究部, 室長 (10436107)
|
|---|
| Project Period (FY) |
2017-04-01 – 2020-03-31
|
| Project Status |
Completed (Fiscal Year 2019)
|
| Budget Amount *help |
¥16,770,000 (Direct Cost: ¥12,900,000、Indirect Cost: ¥3,870,000)
Fiscal Year 2019: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2018: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
Fiscal Year 2017: ¥6,240,000 (Direct Cost: ¥4,800,000、Indirect Cost: ¥1,440,000)
|
|---|
| Keywords | 癌 |
|---|
| Outline of Final Research Achievements |
The purpose of this project is to investigate underlying mechanism of clinical "outlier" among pediatric leukemia, using detailed genomic analysis.
As major findings of this project, we identified a novel fusion of RARB in acute promyelocytic leukemia which lacked typical translocation, and confirmed the pathogenic role for leukemogenesis. We also established a precise genotyping method of NUDT15 variants conferring sensitivity to mercaptopurine, a one of the key drugs for acute lymphoblastic leukemia.
Through these findings, we confirmed an importance of genomic analysis to understand clinical outlier.
|
| Academic Significance and Societal Importance of the Research Achievements |
非典型的な経過を取る小児白血病の病態には、それぞれ特有のゲノム異常が強くかかわっていることが確認された。ゲノム解析は標準的な検査では病態が把握できない、もしくは通常の臨床経過と異なる非典型例の病態を理解することにつながり、白血病の診療にあたってゲノム診断を実施することの重要性を検証する結果が得られた。
|
Report
(4 results)
Research Products
(18 results)
-
-
-
-
-
-
-
-
[Journal Article] Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms2018
Author(s)
Tsujimoto S, Osumi T, Uchiyama M, Shirai R, Moriyama T, Nishii R, Yamada Y, Kudo K, Sekiguchi M, Arakawa Y, Yoshida M, Uchiyama T, Terui K, Ito S, Koh K, Takita J, Ito E, Tomizawa D, Manabe A, Kiyokawa N, Yang JJ, Kato M.
-
Journal Title
Leukemia
Volume: 32
Issue: 12
Pages: 2710-2714
DOI
Related Report
Peer Reviewed / Int'l Joint Research
-
-
[Journal Article] Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia.2017
Author(s)
Seki M, Kimura S, Isobe T, Yoshida K, (13 authors), Masuda K, Kawamoto H, Ohki K, Kato M, Arakawa Y, Koh K, Hanada R, Moritake H, Akiyama M, Kobayashi R, Deguchi T, Hashii Y, Imamura T, Sato A, Kiyokawa N, Oka A, Hayashi Y, Takagi M, Manabe A, Ohara A, Horibe K, Sanada M, Iwama A, Mano H, Miyano S, Ogawa S, Takita J
-
Journal Title
Nature Genetics
Volume: 49
Issue: 8
Pages: 1274-1281
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
[Journal Article] A Cryptic NUP214-ABL1 Fusion in B-cell Precursor Acute Lymphoblastic Leukemia.2017
Author(s)
Tsujimoto SI, Nakano Y, Osumi T, Okada K, Ouchi-Uchiyama M, Kataoka K, Fujii Y, Ohki K, Seki M, Tamagawa N, Takita J, Ogawa S, Kiyokawa N, Hara J, Kato M.
-
Journal Title
J Pediatr Hematol Oncol.
Volume: －
Issue: 6
Pages: 1-1
DOI
Related Report
Peer Reviewed / Open Access
-
[Journal Article] Blastic transformation of juvenile myelomonocytic leukemia caused by the copy number gain of oncogenic KRAS.2017
Author(s)
Osumi T, Kato M, Ouchi-Uchiyama M, Tomizawa D, Kataoka K, Fujii Y, Seki M, Takita J, Ogawa S, Uchiyama T, Ohki K, Kiyokawa N.
-
Journal Title
Pediatr Blood Cancer. Pediatr Blood Cancer.
Volume: 64(9)
Issue: 9
Pages: e26496-e26496
DOI
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
-
