| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2019-11-22 |
| タイトル |
|
|
タイトル |
Comprehensive genetic analyses of relapsed B-cell precursor acute lymphoblastic leukemia in children |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
acute lymphoblastic leukemia |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
relapse |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
childhood |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
RAS pathway genes |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 著者 |
kubo, Kaori
Kudo, Ko
Toki, Tsutomu
Kanezaki, Rika
Ikeda, Fumika
Ito, Tatsuya
Kobayashi, Akie
Sato, Tomohiko
Kamio, Takuya
Sasaki, Shinya
Terui, Kiminori
Ito, Etsuro
|
| 著者所属 |
|
|
値 |
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
The causes for individual relapse in children with B-cell precursor acute lymphoblastic leukemia （BCPALL）remain incompletely understood. Here, we performed comprehensive genetic analyses of 20 pediatric BCP-ALL paired diagnosis-relapse samples. Copy number variation analysis of IKZF1, a gene for which deletions are associated with increased relapse risk, revealed deletions at both diagnosis and at relapse （n=5）. Targeted next generation sequencing showed that RAS pathway genes including KRAS （n=4）, NRAS （n=2）and PTPN11 （n=2）were the most common mutations among the sequencing targets at diagnosis and/or relapse. In 7 of 20 cases （35%）, mutations in PTPN11, KRAS, TP53, CTCF, NCOR1, WHSC1, TUSC3, ERG and NT5C2 were detected only at relapse. Two cases with TP53 mutations showed fatal outcomes. In two of the four cases with high hyperdiploid BCP-ALL, associated with favorable prognosis, PTPN11 mutations were detected only at relapse. Targeted RNA sequencing identified a rare subtype of BCP-ALL with a NUP214-ABL1 fusion that could benefit from tyrosine kinase inhibitors. Together with recent reports that RAS mutations confer sensitivity to MEK inhibitors, these results suggest that comprehensive genetic analysis will contribute to the optimal treatment for relapsed BCP-ALL. |
| 書誌情報 |
en : 弘前医学
巻 70,
号 1,
p. 13-23,
発行日 2019-11-01
|
| ISSN |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
0439-1721 |
| 書誌レコードID |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AN00211444 |
| 著者版フラグ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 出版者 |
|
|
出版者 |
弘前大学大学院医学研究科・弘前医学会 |
HirosakiMedJ_70(1)_13 (517.5 kB)
