Clinical and molecular characteristics of paediatric mature B‐cell acute lymphocytic leukaemia and non‐Hodgkin lymphoma with bone marrow involvement: A joint study between the CCCG leukaemia and lymphoma groups

• Published in: British journal of haematology Vol. 206; no. 4; pp. 1149 - 1159
• Main Authors: Zhao, Jie, Liu, Tian‐Feng, Wu, Ke‐fei, Yang, Liang‐Chun, Xu, Xue‐Ju, Lu, Jun, Shao, Jing‐Bo, Li, Fu, Ma, Fu‐Tian, Guo, Xia, Li, Hui, Liu, Ai‐Guo, Wang, Ning‐Ling, Shen, He‐Ping, Li, Yang, Liu, Si‐Xi, Liang, Chang‐Da, Shen, Shu‐Hong, Fang, Yong‐Jun, Gao, Yi‐Jin
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01.04.2025
• Subjects: Adolescent; Bone marrow; Bone Marrow - metabolism; Bone Marrow - pathology; B‐cell non‐Hodgkin lymphoma; Central nervous system; Child; Child, Preschool; Female; Ferritin; FOXO1 protein; Genetic analysis; Heavy chains; Hodgkin's lymphoma; Humans; Immunoglobulins; Infant; Leukemia; Lymphocytes B; Lymphoma; Lymphoma, Non-Hodgkin - diagnosis; Lymphoma, Non-Hodgkin - genetics; Lymphoma, Non-Hodgkin - mortality; Lymphoma, Non-Hodgkin - pathology; Male; Malignancy; Myc protein; p53 Protein; paediatric mature B‐cell acute lymphocytic leukaemia; Pediatrics; Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics; Precursor Cell Lymphoblastic Leukemia-Lymphoma - mortality; Precursor Cell Lymphoblastic Leukemia-Lymphoma - pathology; RhoA protein; Rituximab; transcriptomic sequencing; Transcriptomics; B‐cell non‐Hodgkin lymphoma; paediatric mature B‐cell acute lymphocytic leukaemia; transcriptomic sequencing
• ISSN: 0007-1048; 1365-2141; 1365-2141
• DOI: 10.1111/bjh.20011

Summary Mature B‐cell acute lymphocytic leukaemia (B‐ALL) is distinguished from B‐cell non‐Hodgkin lymphoma (B‐NHL) by the arbitrariness of the 25% cut‐off, and given that the percentage of bone marrow (BM) blasts can vary according to site of aspirate, we refrained from differentiating mature B‐ALL from B‐NHL with BM infiltration. A total of 156 patients from the Chinese Children Cancer Group with BM blasts of more than 5% and consistent with immunophenotypic features of mature B cells were included in this study. The 2‐year progression‐free survival, 2‐year event‐free survival and 2‐year overall survival were 76.6 ± 3.6%, 69.7 ± 3.7% and 80.1 ± 3.3% respectively. Central nervous system (CNS) involvement, serum ferritin levels higher than four times normal and rituximab no more than two doses were associated with lower PFS. Male, bulky disease and head/neck region involvement were associated with higher rate of CNS invasion. We performed an integrative transcriptomic characterization of 36 cases. Structure variant included IG::MYC, IGH::CACS11, MEF2D::BCL9, IGH::VPS53 and ACIN1::NUTM1. SNV analysis uncovered driver variations affecting 10 recurrently mutated genes including ID3, TP53, MYC, ARID1A, SMARCA4, DDX3X, CCND3, RHOA, SMARCB1, FOXO1 and GNA13. Mature B‐ALL/B‐NHL with BM involvement was a heterogeneous group of malignancies in both clinical features and genetic alternations. Genetics analysis was helpful for making accurate diagnoses and guiding appropriate therapeutic strategies.