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Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases
Author(s) -
Jianfeng Li,
Yuting Dai,
Henrik Lilljebjörn,
Shu-Hong Shen,
Bo-Wen Cui,
Ling Bai,
Yuan-Fang Liu,
Maoxiang Qian,
Yasuo Kubota,
Hitoshi Kiyoi,
Itaru Matsumura,
Yasushi Miyazaki,
Linda Olsson,
Ah Moy Tan,
Hany Ariffin,
Jing Chen,
Junko Takita,
Takahiko Yasuda,
Hiroyuki Mano,
Bertil Johansson,
Jun J. Yang,
Allen Eng Juh Yeoh,
Fumihiko Hayakawa,
Chen Zhu,
ChingHon Pui,
Thoas Fioretos,
Sai-Juan Chen,
Jinyan Huang
Publication year - 2018
Publication title -
proceedings of the national academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.1814397115
Subject(s) - gene , biology , genetics , cancer research , lymphoblastic leukemia , transcriptome , oncology , leukemia , microbiology and biotechnology , medicine , gene expression
Significance In BCP ALL, molecular classification is used for risk stratification and influences treatment strategies. We reanalyzed the transcriptomic landscape of 1,223 BCP ALLs and identified 14 subgroups based on their transcriptional profiles. Eight of these (G1 to G8) are previously well-known subgroups, harboring specific genetic abnormalities. The sample size allowed the identification of six previously undescribed subgroups, consisting of cases harboringPAX5 orCRLF2 fusions (G9),PAX5 (p.P80R) mutations (G10),IKZF1 (p.N159Y) mutations (G11), eitherZEB2 (p.H1038R) mutations orIGH–CEBPE fusions (G12),HLF rearrangements (G13), orNUTM rearrangements (G14). In addition, this study allowed us to determine the prognostic impact of several recently defined subgroups. This study suggests that RNA sequencing should be a valuable tool in the routine diagnostic workup for ALL.

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