2024-03-29T15:28:25Z
https://nagoya.repo.nii.ac.jp/oai
oai:nagoya.repo.nii.ac.jp:00027931
2023-01-16T04:20:09Z
499:500:501
Clinical significance of ASXL2 and ZBTB7A mutations and C-terminally truncated RUNX1-RUNX1T1 expression in AML patients with t(8;21) enrolled in the JALSG AML201 study
Kawashima, Naomi
Akashi, Akimi
Nagata, Yasunobu
Kihara, Rika
Ishikawa, Yuichi
Asou, Norio
Ohtake, Shigeki
Miyawaki, Shuichi
Sakura, Toru
Ozawa, Yukiyasu
Usui, Noriko
Kanamori, Heiwa
Ito, Yoshikazu
Imai, Kiyotoshi
Suehiro, Youko
Kitamura, Kunio
Sakaida, Emiko
Takeshita, Akihiro
Suzushima, Hitoshi
Naoe, Tomoki
Matsumura, Itaru
Miyazaki, Yasushi
Ogawa, Seishi
Kiyoi, Hitoshi
open access
“This is a post-peer-review, pre-copyedit version of an article published in [Annals of Hematology]. The final authenticated version is available online at: http://dx.doi.org/10.1007/s00277-018-3492-5”.
Acute myeloid leukemia
Core-binding factor
ASXL1/2
ZBTB7A
RUNX1-RUX1T1 transcript
We analyzed the clinical significance and genetic features of ASXL2 and ZBTB7A mutations, and the alternatively spliced isoform of the RUNX1-RUNX1T1 transcript, which is also called AML1-ETO9a (AE9a), in Japanese CBF-AML patients enrolled in the JALSG AML201 study. ASXL2 and ZBTB7A genes were sequenced using bone marrow samples of 41 AML patients with t(8;21) and 14 with inv(16). The relative expression levels of AE9a were quantified using the real-time PCR assay in 23 AML patients with t(8;21). We identified ASXL2 (34.1%) and ZBTB7A (9.8%) mutations in only AML patients with t(8;21). ASXL2-mutated patients had a significantly higher WBC count at diagnosis (P = 0.04) and a lower frequency of sex chromosome loss than wild-type patients (33 vs. 76%, respectively, P = 0.01). KIT mutations were the most frequently accompanied with both ASXL2 (36%) and ZBTB7A (75%) mutations. Neither ASXL2 nor ZBTB7A mutations had an impact on overall or event-free survival. Patients harboring cohesin complex gene mutations expressed significantly higher levels of AE9a than unmutated patients (P = 0.03). In conclusion, ASXL2 and ZBTB7A mutations were frequently identified in Japanese AML patients with t(8;21), but not in those with inv(16). Further analysis is required to clarify the detailed biological mechanism of AE9a regulation of the cohesin complex.
ファイル公開:2020/01/01
Springer
2019-01
eng
journal article
AM
http://hdl.handle.net/2237/00030130
https://nagoya.repo.nii.ac.jp/records/27931
https://doi.org/10.1007/s00277-018-3492-5
0939-5555
Annals of Hematology
98
1
83
91
https://nagoya.repo.nii.ac.jp/record/27931/files/Ann_Hematol_Kawashima_et_al.pdf
application/pdf
1.4 MB
2020-01-01