Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California.
Children's Center for Cancer and Blood Diseases and Division of Hematology, Oncology, and Blood and Marrow Transplantation, Children's Hospital Los Angeles, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California.
Pediatr Blood Cancer. 2018 Sep;65(9):e27265. doi: 10.1002/pbc.27265. Epub 2018 May 24.
A pediatric patient diagnosed initially with B-lymphoblastic leukemia (B-ALL) relapsed with lineage switch to acute myeloid leukemia (AML) after chimeric antigen receptor T-cell (CAR-T) therapy and hematopoietic stem cell transplant. A TCF3-ZNF384 fusion was identified at diagnosis, persisted through B-ALL relapse, and was also present in the AML relapse cell population. ZNF384-rearrangements define a molecular subtype of B-ALL characterized by a pro-B-cell immunophenotype; furthermore, ZNF384-rearrangements are prevalent in mixed-phenotype acute leukemias. Lineage switch following CAR-T therapy has been described in patients with KMT2A (mixed lineage leukemia) rearrangements, but not previously in any patient with ZNF384 fusion.
一位儿科患者最初被诊断为 B 淋巴细胞白血病（B-ALL），在嵌合抗原受体 T 细胞（CAR-T）治疗和造血干细胞移植后，发生了向急性髓细胞白血病（AML）的谱系转换复发。在诊断时发现了 TCF3-ZNF384 融合，该融合在 B-ALL 复发时持续存在，并且也存在于 AML 复发细胞群中。ZNF384 重排定义了 B-ALL 的一个分子亚型，其特征为前 B 细胞免疫表型；此外，ZNF384 重排在混合表型急性白血病中很常见。在 KMT2A（混合谱系白血病）重排的患者中，已经描述了 CAR-T 治疗后的谱系转换，但在任何具有 ZNF384 融合的患者中尚未描述过。
