Alessio Conte, Damiana De Padova, Serena Giglio, Virginia Livellara, Carla Manzitti, Patrizia De Marco, Valeria Capra, Stefania Sorrentino
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引用次数: 0
摘要
背景：婴幼儿肌纤维瘤病（IM）是一种罕见的疾病，其特征是在皮肤、皮下组织、肌肉和偶尔内脏中生长良性肿瘤。肌纤维瘤病可因 PDGFRB 或 NOTCH3 变异而遗传。治疗方法主要是保守治疗或手术治疗。对于播散性疾病，可采用联合疗法：我们报告了一名两岁患儿在确诊 IM 11 年后复发的病例，该患儿最初接受显微镜下完全切除术治疗。研究发现，PDGFRB 基因中存在一个新的杂合 c.1687G>A（p.Glu563Lys）突变（被认为可能是致病基因）：结论：在初始治疗的同时，基因检测对于确诊的 IM 患者的临床实践和随访至关重要。
Late Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences.
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.
期刊介绍：
Journal of Pediatric Hematology/Oncology (JPHO) reports on major advances in the diagnosis and treatment of cancer and blood diseases in children. The journal publishes original research, commentaries, historical insights, and clinical and laboratory observations.
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