Detection of a GLIS3 fusion in an infant with AML refractory to chemotherapy.
Detection of a GLIS3 fusion in an infant with AML refractory to chemotherapy.
复制标题
检测化疗难治性 AML 婴儿中的 GLIS3 融合。
DOI：
10.1101/mcs.a006220
复制
发表时间：
2022
影响因子：
1.8
通讯作者：
Stieglitz,Elliot
中科院分区：
文献类型：
--
作者：
Smith,StephenM;Lee,Alex;Tong,Schuyler;Leung,Stanley;Hongo,Henry;Rivera,Jose;Sweet-Cordero,Alejandro;Michlitsch,Jennifer;Stieglitz,Elliot
Infants diagnosed with acute myeloid leukemia (AML) frequently harbor cytogenetically cryptic fusions involvingKMT2A,NUP98, orGLIS2. Those with AML driven specifically byCBFA2T3::GLIS2fusions have a dismal prognosis and are currently risk-stratified to receive hematopoietic stem cell transplantation (HSCT) in first remission. Here we report an infant with AML who was refractory to multiple lines of chemotherapy but lacked an identifiable fusion despite cytogenetic, fluorescence in situ hybridization (FISH) and targeted next generation sequencing (NGS) testing. Research-grade RNA-seq from a relapse sample revealed in-frameCBFA2T3::GLIS3 and GLIS3::CBFA2T3fusions. A patient-derived xenograft (PDX) generated from this patient has a short latency period and represents a strategy to test novel agents that may be effective in this aggressive subtype of AML. This report describes the first case of AML with aCBFA2T3::GLIS3fusion and highlights the need for unbiased NGS testing including RNA-seq at diagnosis, as patients withCBFA2T3::GLIS3fusions should be considered for HSCT in first remission.
