---
title: "Clinical characteristics and outcomes of pediatric B-ALL with MEF2D gene rearrangement"
id: "pubmed-42527140"
canonical_url: "https://medichelpline.com/clinical-feed/pubmed-42527140"
content_type: "clinical_feed_article"
specialty: "Oncology"
source_name: "PubMed / NCBI"
source_url: "https://pubmed.ncbi.nlm.nih.gov/42527140/"
doi: "10.3760/cma.j.cn112140-20251230-01163"
published_at: "2026-08-02T00:00:00.000Z"
evidence_level: "English Abstract"
license: "CC-BY-NC-4.0 / Informational Use"
---
# Clinical characteristics and outcomes of pediatric B-ALL with MEF2D gene rearrangement
## Provenance & Clinical Metadata
- **Canonical URL:** https://medichelpline.com/clinical-feed/pubmed-42527140
- **Specialty:** [Oncology](https://medichelpline.com/clinical-feed/oncology.md)
- **Primary Source:** PubMed / NCBI
- **Source URL:** [Original Journal Publication](https://pubmed.ncbi.nlm.nih.gov/42527140/)
- **DOI:** [10.3760/cma.j.cn112140-20251230-01163](https://doi.org/10.3760%2Fcma.j.cn112140-20251230-01163)
- **Published At:** 2026-08-02T00:00:00.000Z
- **Evidence Rating:** English Abstract
## Executive GIST (TL;DR)
- This case series analyzed 9 children diagnosed with **B-cell acute lymphoblastic leukemia (B-ALL)** harboring **MEF2D** gene rearrangements, treated at the First Affiliated Hospital of Zhengzhou University between May 2020 and June 2025. - Patients: 3 boys and 6 girls; median diagnostic age 12.0 years (IQR 11.0–13.8). Five presented with fever and arthralgia at onset. - Immunophenotype: 1 early precursor B-ALL, 8 common B-ALL. All 9 showed uniformly high expression of **CD38** and absence of cytoplasmic immunoglobulin M (**cIgM**). - Morphology: Bone marrow smears showed cytoplasmic vacuolization in 5 of 9 cases. - Molecular findings: RNA sequencing revealed five MEF2D fusion partners: BCL9 (4 cases), FOXJ2 (2), and one case each with DAZAP1, SS18, and ARNT. Six children had heterozygous deletions of **CDKN2A/CDKN2B**; eight had concurrent gene variants. - Treatment: All children received induction with the VDLP regimen (vincristine, daunorubicin, L-asparaginase, prednisone) per the 2018 Clinical Practice Guideline for Childhood ALL. - Early response: Flow cytometry MRD at end of induction was negative (<0.01%) in all cases. - Outcomes: One child lost to follow-up during maintenance; three relapsed and died. As of follow-up to October 10, 2025, two patients were disease-free and three were continuing regular treatment. - Interpretation: MEF2D-rearranged B-ALL predominates in older children, has a characteristic immunophenotype (high **CD38**, absent **cIgM**), frequent **CDKN2A/CDKN2B** deletions, good initial MRD response but high relapse risk and limited salvage efficacy. - Recommendation from authors: Consider next-generation sequencing–based MRD monitoring to improve relapse risk assessment in this high-risk subtype.
## Clinical Analysis & Structured Key Points
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[ Full text links ](https://pubmed.ncbi.nlm.nih.gov/42527140/) ### Actions Cite Collections Add to Collections * Create a new collection * Add to an existing collection Name your collection: Name must be less than 100 characters Choose a collection: Unable to load your collection due to an error [Please try again](https://pubmed.ncbi.nlm.nih.gov/42527140/) Add Cancel Permalink Permalink Copy Display options Display options Format Abstract PubMed PMID ### Page navigation * [ Title & authors ](https://pubmed.ncbi.nlm.nih.gov/42527140/#heading) * [ Abstract ](https://pubmed.ncbi.nlm.nih.gov/42527140/#abstract) * [ Conflict of interest statement ](https://pubmed.ncbi.nlm.nih.gov/42527140/#conflict-of-interest) * [ Publication types ](https://pubmed.ncbi.nlm.nih.gov/42527140/#publication-types) * [ MeSH terms ](https://pubmed.ncbi.nlm.nih.gov/42527140/#mesh-terms) * [ Substances ](https://pubmed.ncbi.nlm.nih.gov/42527140/#substances) * [ LinkOut - more resources ](https://pubmed.ncbi.nlm.nih.gov/42527140/#linkout) Title & authors Abstract Conflict of interest statement Publication types MeSH terms Substances LinkOut - more resources Zhonghua Er Ke Za Zhi Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Zhonghua+Er+Ke+Za+Zhi%22%5Bjour%5D&sort=date&sort_order=desc) * [ Search in NLM Catalog ](https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Zhonghua+Er+Ke+Za+Zhi%22%5BTitle+Abbreviation%5D) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42527140/) . 2026 Aug 2;64(8):941-946. doi: 10.3760/cma.j.cn112140-20251230-01163. # [Clinical analysis of 9 children of B-cell acute lymphoblastic leukemia with MEF2D gene rearrangement] [Article in Chinese] [X P Jia](https://pubmed.ncbi.nlm.nih.gov/?term=Jia+XP&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#full-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [A N Lian](https://pubmed.ncbi.nlm.nih.gov/?term=Lian+AN&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#full-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [Y S Zhang](https://pubmed.ncbi.nlm.nih.gov/?term=Zhang+YS&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#full-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [J Luo](https://pubmed.ncbi.nlm.nih.gov/?term=Luo+J&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#full-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [Y J Ren](https://pubmed.ncbi.nlm.nih.gov/?term=Ren+YJ&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#full-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [X J Xu](https://pubmed.ncbi.nlm.nih.gov/?term=Xu+XJ&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#full-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [S T Bai](https://pubmed.ncbi.nlm.nih.gov/?term=Bai+ST&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#full-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [G Y Sheng](https://pubmed.ncbi.nlm.nih.gov/?term=Sheng+GY&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#full-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [C M Wang](https://pubmed.ncbi.nlm.nih.gov/?term=Wang+CM&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#full-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.") Affiliations Expand ### Affiliation * 1 Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China. * PMID: **42527140** * DOI: [ 10.3760/cma.j.cn112140-20251230-01163 ](https://doi.org/10.3760/cma.j.cn112140-20251230-01163) Item in Clipboard # [Clinical analysis of 9 children of B-cell acute lymphoblastic leukemia with MEF2D gene rearrangement] [Article in Chinese] X P Jia et al. Zhonghua Er Ke Za Zhi. 2026. Show details Display options Display options Format Abstract PubMed PMID Zhonghua Er Ke Za Zhi Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Zhonghua+Er+Ke+Za+Zhi%22%5Bjour%5D&sort=date&sort_order=desc) * [ Search in NLM Catalog ](https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Zhonghua+Er+Ke+Za+Zhi%22%5BTitle+Abbreviation%5D) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42527140/) . 2026 Aug 2;64(8):941-946. doi: 10.3760/cma.j.cn112140-20251230-01163. ### Authors [X P Jia](https://pubmed.ncbi.nlm.nih.gov/?term=Jia+XP&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#short-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [A N Lian](https://pubmed.ncbi.nlm.nih.gov/?term=Lian+AN&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#short-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [Y S Zhang](https://pubmed.ncbi.nlm.nih.gov/?term=Zhang+YS&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#short-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [J Luo](https://pubmed.ncbi.nlm.nih.gov/?term=Luo+J&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#short-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [Y J Ren](https://pubmed.ncbi.nlm.nih.gov/?term=Ren+YJ&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#short-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [X J Xu](https://pubmed.ncbi.nlm.nih.gov/?term=Xu+XJ&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#short-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [S T Bai](https://pubmed.ncbi.nlm.nih.gov/?term=Bai+ST&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#short-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [G Y Sheng](https://pubmed.ncbi.nlm.nih.gov/?term=Sheng+GY&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#short-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China."), [C M Wang](https://pubmed.ncbi.nlm.nih.gov/?term=Wang+CM&cauthor_id=42527140)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42527140/#short-view-affiliation-1 "Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.") ### Affiliation * 1 Department of Pediatric Hematology and Oncology, Children's Hospital of First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China. * PMID: **42527140** * DOI: [ 10.3760/cma.j.cn112140-20251230-01163 ](https://doi.org/10.3760/cma.j.cn112140-20251230-01163) Item in Clipboard Full text links Cite Display options Display options Format Abstract PubMed PMID ## Abstract in [ English, ](https://pubmed.ncbi.nlm.nih.gov/42527140/#eng-abstract) [ Chinese ](https://pubmed.ncbi.nlm.nih.gov/42527140/#zho-abstract) **Objective:** To summarize the clinical characteristics, molecular genetic features, diagnosis and treatment of pediatric B-cell acute lymphoblastic leukemia (B-ALL) with myocyte enhancer factor 2D (MEF2D) gene rearrangement. **Methods:** In this case series study, clinical data of 9 children newly diagnosed B-ALL with MEF2D gene rearranged, admitted to the First Affiliated Hospital of Zhengzhou University from May 2020 to June 2025 were collected. The clinical characteristics, laboratory findings, treatment regimens, and outcomes of these patients were systematically analyzed. **Results:** A total of 9 chlidren were enrolled (3 boys and 6 girls), with the diagnostic age of 12.0 (11.0, 13.8) years. Five children initially presented with fever accompanied by arthralgia. Immunophenotyping revealed that 1 child was early precursor B-ALL and the remaining 8 children were common B-ALL. Uniformly high expression of CD38 and absence of cytoplasmic immunoglobulin M (cIgM) expression in all 9 children. Bone marrow smear examination demonstrated cytoplasmic vacuolization in 5 children. RNA sequencing detected 5 types of MEF2D gene fusion partners, including BCL9 gene in 4 children, FOXJ2 gene in 2 children, and 1 child each of DAZAP1 gene, SS18 gene, and ARNT gene. Heterozygous deletions of CDKN2A or CDKN2B gene were detected in 6 children, and 8 children exhibited concurrent gene variations. Induction therapy with the vincristine+daunorubicin+L-asparaginase+prednisone (VDLP) regimen was administered to all 9 children in accordance with＂the Clinical Practice Guideline for Childhood Acute Lymphoblastic Leukemia (2018)＂. At the end of induction remission therapy, minimal residual disease (MRD) assessed by flow cytometry were all negative (<0.01%) in all cases. One child was lost to follow-up during the maintenance phase. Three children experienced relapse and succumbed. The remaining 5 children were followed up until October 10, 2025, with 2 in disease-free survival and 3 still receiving regular treatment. **Conclusions:** B-ALL with MEF2D gene rearrangement predominantly affects older children, typically presenting with fever accompanied by arthralgia. This subtype exhibits high CD38 expression and absence of cIgM expression, with a frequent incidence of CDKN2A or CDKN2B gene deletions. Although the initial treatment response was good, the risk of recurrence was high and the efficacy of salvage treatment was limited. For this high-risk sub-type, the use of next-generation sequencing for MRD monitoring could be explored to more accurately assess the risk of relapse. **目的：** 总结伴有肌细胞增强因子2D（MEF2D）基因重排的儿童急性B淋巴细胞白血病（B-ALL）的临床特点、分子遗传学特征及诊治要点。 **方法：** 病例系列研究。收集2020年5月至2025年6月郑州大学第一附属医院收治的9例伴有MEF2D基因重排的初诊B-ALL患儿的资料，分析其临床特征、实验室检查、治疗及转归情况。 **结果：** 9例患儿男3例、女6例，诊断年龄12.0（11.0，13.8）岁，5例以发热伴关节疼痛起病。免疫分型提示1例为早期前B-ALL，其余8例为普通B-ALL；9例均高表达CD38，不表达胞质免疫球蛋白M（cIgM）。5例骨髓涂片可见细胞伴有空泡。RNA测序检测到5种MEF2D基因融合伙伴，分别为BCL9基因4例，FOXJ2基因2例，DAZAP1基因、SS18基因及ARNT基因各1例。6例检出CDKN2A或CDKN2B基因杂合缺失，8例合并基因变异。9例患儿均按照2018儿童急性淋巴细胞白血病诊疗规范给予VDLP（长春新碱、柔红霉素、培门冬酶、泼尼松）方案诱导治疗，诱导缓解治疗结束时经流式细胞术检测微小残留病均阴性（<0.01%）。1例患儿维持治疗阶段失访，3例复发后死亡，随访至2025年10月10日2例无病生存，3例规律治疗中。 **结论：** 伴有MEF2D基因重排的B-ALL多见于大龄儿童，常以发热伴关节疼痛起病，高表达CD38，不表达cIgM，CDKN2A或CDKN2B基因缺失发生率高。尽管初始治疗反应良好，但复发风险高且挽救治疗疗效有限，采用二代测序进行微小残留病监测或许可更准确评估复发风险。. 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