Yang Peiyi, Xu Na, Su Yan, Duan Chao, Wang Shengcai, Fu Libing, Yu Tong, Guo Ruolan, Ma Xiaoli
Medical Oncology Department, Pediatric Oncology Center, Beijing Children's Hospital, Capital Medical University, National Center for Children' s Health, Beijing, China, Beijing Key Laboratory of Pediatric Hematology Oncology, Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing, China.
Department of Otolaryngology Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center of Children's Health, Beijing, China.
Front Oncol. 2023 Jan 4;12:934882. doi: 10.3389/fonc.2022.934882. eCollection 2022.
Rhabdomyosarcoma (RMS) is the most common soft tissue tumor in children, and its most common pathological types include embryonal RMS and alveolar RMS. In contrast, spindle cell RMS (SRMS) is a rare type. Moreover, the tongue is a rare primary site of RMS, and infancy is a rare age at onset.
Two infants were diagnosed with lingual RMS at 3 and 5 months after birth, respectively, and were admitted to Beijing Children's Hospital. The pathological type in both cases was SRMS. Both were classified as low-risk and were treated with surgery and chemotherapy. Case 1 was in complete remission at the latest follow-up, and Case 2 had a relapse 10 months after stopping chemotherapy, achieving complete remission after the multimodal treatment of chemotherapy, surgery, and radiotherapy. The venous blood gene test of the two infants did not indicate a pathogenic mutation or a possible pathogenic mutation related to RMS. In Case 1, variants of the and genes, both with unknown significance and a possible relation to RMS, were detected. In Case 2, three gene variants of unknown significance that were possibly associated with RMS-, , and -were identified.
Lingual RMS in infants is rare. Its clinical manifestations lack specificity, and early recognition is complex. The success and timing of local treatment are important prognostic factors. Genetic testing may be helpful for the early detection of tumor susceptibility and the estimation of prognosis.
横纹肌肉瘤(RMS)是儿童最常见的软组织肿瘤,其最常见的病理类型包括胚胎型RMS和肺泡型RMS。相比之下,梭形细胞RMS(SRMS)是一种罕见类型。此外,舌部是RMS罕见的原发部位,婴儿期是罕见的发病年龄。
两名婴儿分别在出生后3个月和5个月被诊断为舌部RMS,并入住北京儿童医院。两例的病理类型均为SRMS。两者均被分类为低风险,并接受了手术和化疗。病例1在最近一次随访时完全缓解,病例2在停止化疗10个月后复发,在化疗、手术和放疗的多模式治疗后实现完全缓解。两名婴儿的静脉血基因检测未显示与RMS相关的致病突变或可能的致病突变。在病例1中,检测到了意义不明且可能与RMS有关的 和 基因变异。在病例2中,鉴定出了三个意义不明且可能与RMS相关的基因变异—— 、 和 。
婴儿舌部RMS罕见。其临床表现缺乏特异性,早期识别复杂。局部治疗的成功与否和时机是重要的预后因素。基因检测可能有助于早期发现肿瘤易感性并评估预后。