Departments of Pediatrics & Child Health.
Biochemistry and Medical Genetics.
J Pediatr Hematol Oncol. 2021 May 1;43(4):e501-e504. doi: 10.1097/MPH.0000000000002051.
Combined rearrangements of MYC and BCL2 are rare in precursor B-cell acute lymphoblastic leukemia (B-ALL). A 14-year-old boy presented with swelling of the knee and face. Imaging revealed diffuse infiltration of lacrimal glands, parotid glands along with the extensive epidural disease. Morphology and immunophenotype of knee joint aspirate were consistent with precursor B-ALL. Fluorescent in situ hybridization identified rearrangements of MYC and BCL2 genes. The disease was refractory to intensive treatment. The patient died of progressive disease. Precursor B-ALL with combined MYC and BCL2 rearrangements is rare, characterized by an aggressive clinical course, and has an inadequate response to standard therapeutic approaches.
MYC 和 BCL2 联合重排罕见于前体 B 细胞急性淋巴细胞白血病(B-ALL)。一名 14 岁男孩出现膝关节和面部肿胀。影像学显示泪腺、腮腺弥漫浸润,并伴有广泛的硬脊膜疾病。膝关节抽吸物的形态学和免疫表型与前体 B-ALL 一致。荧光原位杂交确定了 MYC 和 BCL2 基因的重排。该疾病对强化治疗有抗药性。患者死于疾病进展。伴有 MYC 和 BCL2 联合重排的前体 B-ALL 较为罕见,其特征为侵袭性临床病程,且对标准治疗方法反应不足。