Fusion gene map of acute leukemia revealed by transcriptome sequencing of a consecutive cohort of 1000 cases in a single center.
Fusion gene map of acute leukemia revealed by transcriptome sequencing of a consecutive cohort of 1000 cases in a single center.
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DOI：
10.1038/s41408-021-00504-5
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发表时间：
2021-06-16
影响因子：
12.8
通讯作者：
Liu H
中科院分区：
文献类型：
--
作者：
Chen X;Wang F;Zhang Y;Ma X;Cao P;Yuan L;Wang L;Chen J;Zhou X;Wu Q;Liu M;Jin D;Liu H
融合基因（FGs）是急性白血病中重要的遗传异常，但其多样性和在急性白血病中的发生仍有待系统描述。全转录组测序（WTS）为FGs分析提供了强有力的工具。在这里，我们报告了WTS在一个单一中心的1000例急性白血病病例的连续队列中显示的FG图，其中包括539例急性髓性白血病（AML）， 437例急性淋巴细胞白血病（ALL）和24例混合表型急性白血病（MPAL）患者。生物信息学分析确定了792个高置信度帧内融合事件（296个不同的融合），分为四个层次。A级（致病性）、B级（可能致病性）和C级（不确定意义）fg在总队列中占61.8% （AML为59.7%，ALL为64.5%，MPAL为63.6%）。涉及蛋白激酶、转录因子和表观遗传基因的FGs分别在10.7%、48.5%和15.1%的病例中检测到。发现了相当数量的新fg （AML中有82个，B-ALL中有88个，T-ALL中有13个，MPAL中有9个）。这一全面描述急性白血病中fg的真实图谱揭示了先前未被认识到的具有临床相关性的多个fg。WTS是一种有价值的工具，应广泛应用于急性白血病的常规诊断。
Fusion genes (FGs) are important genetic abnormalities in acute leukemias, but their variety and occurrence in acute leukemias remain to be systematically described. Whole transcriptome sequencing (WTS) provides a powerful tool for analyzing FGs. Here we report the FG map revealed by WTS in a consecutive cohort of 1000 acute leukemia cases in a single center, including 539 acute myeloid leukemia (AML), 437 acute lymphoblastic leukemia (ALL), and 24 mixed-phenotype acute leukemia (MPAL) patients. Bioinformatic analysis identified 792 high-confidence in-frame fusion events (296 distinct fusions) which were classified into four tiers. Tier A (pathogenic), B (likely pathogenic), and C (uncertain significance) FGs were identified in 61.8% cases of the total cohort (59.7% in AML, 64.5% in ALL, and 63.6% in MPAL). FGs involving protein kinase, transcription factor, and epigenetic genes were detected in 10.7%, 48.5%, and 15.1% cases, respectively. A considerable amount of novel FGs (82 in AML, 88 in B-ALL, 13 in T-ALL, and 9 in MPAL) was identified. This comprehensively described real map of FGs in acute leukemia revealed multiple FGs with clinical relevance that have not been previously recognized. WTS is a valuable tool and should be widely used in the routine diagnostic workup of acute leukemia.
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影响因子：
16.6
作者：
Gu, Zhaohui;Churchman, Michelle;Roberts, Kathryn;Li, Yongjin;Liu, Yu;Harvey, Richard C.;McCastlain, Kelly;Reshmi, Shalini C.;Payne-Turner, Debbie;Iacobucci, Ilaria;Shao, Ying;Chen, I-Ming;Valentine, Marcus;Pei, Deqing;Mungall, Karen L.;Mungall, Andrew J.;Ma, Yussanne;Moore, Richard;Marra, Marco;Stonerock, Eileen;Gastier-Foster, Julie M.;Devidas, Meenakshi;Dai, Yunfeng;Wood, Brent;Borowitz, Michael;Larsen, Eric E.;Maloney, Kelly;Mattano, Leonard A., Jr.;Angiolillo, Anne;Salzer, Wanda L.;Burke, Michael J.;Gianni, Francesca;Spinelli, Orietta;Radich, Jerald P.;Minden, Mark D.;Moorman, Anthony V.;Patel, Bella;Fielding, Adele K.;Rowe, Jacob M.;Luger, Selina M.;Bhatia, Ravi;Aldoss, Ibrahim;Forman, Stephen J.;Kohlschmidt, Jessica;Mrozek, Krzysztof;Marcucci, Guido;Bloomfield, Clara D.;Stock, Wendy;Kornblau, Steven;Kantarjian, Hagop M.;Konopleva, Marina;Paietta, Elisabeth;Willman, Cheryl L.;Loh, Mignon L.;Hunger, Stephen P.;Mullighan, Charles G.
通讯作者：
Mullighan, Charles G.
DOI：
10.1073/pnas.0404438101
发表时间：
2004-10-05
影响因子：
11.1
作者：
Chen, J;DeAngelo, DJ;Gilliland, DG
通讯作者：
Gilliland, DG
影响因子：
2.7
作者：
Chen, Xue;Wang, Fang;Liu, Hongxing
通讯作者：
Liu, Hongxing
影响因子：
6.4
作者：
Chen, Xue;Wang, Fang;Liu, Hongxing
通讯作者：
Liu, Hongxing
影响因子：
7.5
作者：
Stengel, Anna;Shahswar, Rabia;Haferlach, Claudia
通讯作者：
Haferlach, Claudia