Habib Diane, Jabbour Elias, Bataller Alex, Sasaki Koji, Tang Guilin, Loghavi Sanam, Li Shaoying, Senapati Jayastu, Short Nicholas J, Jain Nitin, Kantarjian Hagop, Haddad Fadi G
Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX.
Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
Clin Lymphoma Myeloma Leuk. 2025 Sep;25(9):672-675. doi: 10.1016/j.clml.2025.03.010. Epub 2025 Mar 25.
The (14;18)(q32;q21) chromosomal translocation leading to IGH::BCL2 rearrangement, has been rarely described in B-cell acute lymphoblastic leukemia (B-ALL), mainly in association with MYC rearrangement. The outcome of B-ALL harboring t(14;18)(q32;q21) without MYC rearrangement remains unknown.
We retrospectively reviewed 2778 cases of B-ALL treated at our institution and identified those harboring a t(14;18)(q32;q21) by karyotype. Cases with concomitant MYC rearrangement and cases of lymphoma were excluded. Three patients with no MYC rearrangement by karyotype but without further confirmation by Fluorescence In Situ Hybridization (FISH), were included.
Five patients were included in this analysis, with a median age of 35 years (range, 19-58); 1 patient had central nervous system involvement at diagnosis. Induction therapy consisted of hyper-CVAD in 3 patients, hyper-CVAD with inotuzumab ozogamicin in 1 patient, and asparaginase-based regimen in 1 patient. Four patients (80%) responded, with a median duration of response of 12.9 months (range, 5.1-32.9); 1 patient had primary refractory disease. None of the patients proceeded to an allogeneic hematopoietic stem cell transplantation (HSCT). Four patients received salvage chemotherapy and eventually progressed and died. One patient received salvage therapy with subcutaneous blinatumomab and achieved complete remission with negative measurable residual disease (MRD) by next-generation sequencing (NGS) after 3 courses of therapy. After a median follow-up of 13.4 months, the 2-year event-free survival and overall survival rates were 20% and 25%, respectively.
The outcome of B-ALL with t(14;18)(q32;q21) is poor. Incorporating immune-therapies, chimeric antigen receptor (CAR)-T cell therapy, with or without HSCT, into the treatment regimens, might further improve outcomes.
导致IGH::BCL2重排的(14;18)(q32;q21)染色体易位在B细胞急性淋巴细胞白血病（B-ALL）中很少见，主要与MYC重排相关。携带t(14;18)(q32;q21)且无MYC重排的B-ALL的预后仍不清楚。
我们回顾性分析了在我院接受治疗的2778例B-ALL病例，并通过核型分析确定了那些携带t(14;18)(q32;q21)的病例。排除伴有MYC重排的病例和淋巴瘤病例。纳入3例核型分析无MYC重排但未通过荧光原位杂交（FISH）进一步确认的患者。
5例患者纳入本分析，中位年龄35岁（范围19-58岁）；1例患者诊断时伴有中枢神经系统受累。诱导治疗中，3例患者采用Hyper-CVAD方案，1例患者采用Hyper-CVAD联合奥英妥珠单抗方案，1例患者采用基于门冬酰胺酶的方案。4例患者（80%）有反应，中位反应持续时间为12.9个月（范围5.1-32.9个月）；1例患者为原发性难治性疾病。所有患者均未进行异基因造血干细胞移植（HSCT）。4例患者接受挽救性化疗，最终病情进展并死亡。1例患者接受皮下注射博纳吐单抗挽救治疗，3个疗程后通过下一代测序（NGS）实现完全缓解且可测量残留病（MRD）阴性。中位随访13.4个月后，2年无事件生存率和总生存率分别为20%和25%。
携带t(14;18)(q32;q21)的B-ALL预后较差。将免疫治疗、嵌合抗原受体（CAR）-T细胞治疗（无论是否联合HSCT）纳入治疗方案，可能会进一步改善预后。
