Siyu Chen,1,2,* Shengwang Wu,1,2,* Nan Li,1,2 Xing Qiang,1,2 Yongjie Tang,1,2 Yimei Feng,1,2 Cheng Zhang,1,2 Xiangui Peng,1,2 Shuiqing Liu,1,2 Xi Zhang1– 3 

1Medical Center of Hematology, Xinqiao Hospital of Army Medical University, Chongqing, 400037, People’s Republic of China; 2Chongqing Key Laboratory of Hematology and Microenvironment, Chongqing, 400037, People’s Republic of China; 3Jinfeng Laboratory, Chongqing, 401329, People’s Republic of China

*These authors contributed equally to this work

Correspondence: Xiangui Peng, Email pxgpxg1964@tmmu.edu.cn; Shuiqing Liu, Email liushuiqing062@tmmu.edu.cn

Abstract: T-cell acute lymphoblastic leukemia (T-ALL) with coexisting SIL-TAL1 fusion and t(11;14)(p15;q11.2) is exceedingly rare. There are limited data on the clinical course and outcomes of such patients. We report a case of a 19-year-old male presenting with aggressive T-ALL harboring these abnormalities, along with NOTCH1 and PTEN mutations. SIL-TAL1 positivity is associated with poor prognosis in T-ALL. Despite achieving remission with intensive chemotherapy, the patient experienced rapid relapse and poor overall survival, reflecting the ineffectiveness of conventional treatments. The findings highlight the synergistic role of SIL-TAL1 and t(11;14) in disease progression and underscore the urgent need for targeted therapies and immunotherapies to improve outcomes in such high-risk cases.

Keywords: T-cell acute lymphoblastic leukemia, SIL-TAL1, t(11,14)(p15,q11.2), NOTCH1, PTEN, targeted therapy