遗传性婴儿肌纤维瘤病的迟发性复发。病例报告及对复发的简要关注。
Late Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences.
机构信息
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa.
Arcispedale Sant'Anna Medical Department, Azienda Ospedaliera Universitaria di Ferrara, Pediatrics Unit, SSD Pediatric Oncohematology, Cona (Ferrara).
出版信息
J Pediatr Hematol Oncol. 2024 Oct 1;46(7):e528-e530. doi: 10.1097/MPH.0000000000002942. Epub 2024 Aug 14.
BACKGROUND
Infantile myofibromatosis (IM) is a rare disorder characterized by benign tumors in the skin, subcutaneous tissue, muscle, and occasionally viscera. IM can be hereditary due to PDGFRB or NOTCH3 variants. Treatment is mainly conservative or surgical. Combination regimens have been used in case of disseminated disease.
OBSERVATION
We present relapsed disease of IM 11 years after diagnosis in a 2-year-old child initially treated by microscopically complete resection. A new heterozygous c.1687G>A (p.Glu563Lys) mutation in the PDGFRB gene was identified (considered likely pathogenic).
CONCLUSIONS
In association with initial treatment, genetic testing is crucial for tailored clinical practice and follow-up in patients diagnosed with IM.
背景
婴儿肌纤维瘤病（IM）是一种罕见的疾病，其特征是皮肤、皮下组织、肌肉良性肿瘤，偶尔累及内脏。IM 可因 PDGFRB 或 NOTCH3 变异而遗传。治疗主要为保守或手术。对于播散性疾病，采用联合治疗方案。
观察
我们报道了一名 2 岁儿童，11 年前诊断为 IM，经显微镜下完全切除后复发。该患儿 PDGFRB 基因中存在新的杂合 c.1687G>A（p.Glu563Lys）突变（认为可能为致病性突变）。
结论
与初始治疗相关，基因检测对于 IM 患者的临床实践和随访至关重要。
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