Clinical characteristics and genetic analysis of Duchenne muscular dystrophy with myogenic tumors
10.3760/cma.j.cn113694-20241202-00779
- VernacularTitle:迪谢内肌营养不良合并肌源性肿瘤临床特点及遗传学分析
- Author:
Lifang SONG
1
;
Li WANG
;
Daoqi MEI
;
Yuan WANG
;
Yanli MA
;
Kaili XU
;
Fan WANG
;
Yixin XIAN
;
Xiao FENG
;
Kai LIU
Author Information
1. 郑州大学附属儿童医院（河南省儿童医院，郑州儿童医院）神经内科，郑州 450018
- Publication Type:Journal Article
- Keywords:
Muscular dystrophy, Duchenne;
Rhabdomyosarcoma;
Sarcoma, alveolar soft part;
Rhabdomyosarcoma, embryonal;
DMD gene
- From:
Chinese Journal of Neurology
2025;58(6):632-639
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical characteristics and genetic etiology of Duchenne muscular dystrophy (DMD) with myogenic tumors.Methods:The clinical data of 2 children with DMD combined with myogenic tumors diagnosed in Children′s Hospital Affiliated to Zhengzhou University in July 2021 and February 2022 were collected. The relevant literature was reviewed to summarize the clinical characteristics and explore the mechanism of the dystrophin ( DMD) gene in myogenic tumors. Results:A 6-year and 10-month-old boy with DMD (deletion of exon 45) and a 12-year-old boy with DMD (deletion of exon 51) were diagnosed with tumors. They were diagnosed with DMD for delayed motor development in the Department of Neurology of Children′s Hospital Affiliated to Zhengzhou University. They presented with painless masses in the waist. Postoperative pathological diagnosis: the pathology and immunohistochemistry of case 1 showed an alveolar rhabdomyosarcoma (ARMS) and both myogenin and myogenic differentiation 1 positive; the pathology and immunohistochemistry of case 2 showed an alveolar soft part sarcoma(ASPS) and transcription factor enhancer 3 positive; both cases were myogenic tumors. Literature review (including this paper) showed that there were in total 14 cases with DMD combined with myogenic tumors including 13 cases of rhabdomyosarcoma (RMS) and 1 case of ASPS. All of them are male, and the age of onset of the tumors was 4-17 years. Pathological subtypes were described in 6 cases of ARMS and 5 cases of embryonal RMS, and were not described in 2 cases. The 9 cases described all had large deletions in the DMD gene which can change the reading frame of the DMD gene, and all gene mutations did not exceed exon 62. Conclusions:DMD gene with deletion may increase the risk of having myogenic tumors, and RMS is more common, which is manifested as painless mass in early stage. All DMD gene deletions do not exceed exon 62 and lead to change of the gene reading frame with severe clinical phenotype and degenerative changes in muscle function.
