Mârțu Cristian, Tîrnovanu Ștefan Dragoș, Mârțu Ioana, Ferariu Dan, Mârțu Dan, Jităreanu Alexandra, Rădulescu Luminița
ENT Clinic Department, "Grigore T. Popa" University of Medicine and Pharmacy Iasi, Universitatii Street 16, 700115 Iasi, Romania.
Department of Orthopedics and Traumatology, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iasi, Romania.
Medicina (Kaunas). 2025 Jan 6;61(1):80. doi: 10.3390/medicina61010080.
Alveolar rhabdomyosarcoma (aRMS) is a rare pediatric malignant tumor with a poor prognosis, particularly when located in the rhinopharynx and sphenoidal floor, which complicates diagnosis and increases the risk of misclassification as benign growths. The specific genotype of aRMS is associated with a worse clinical outcome. In young children, especially those aged 4 to 12 years, rhinopharyngeal masses are often attributed to chronic adenoiditis; however, other benign (e.g., angiofibroma in boys) and malignant tumors may also be present. Initial symptoms frequently include nasal obstruction, muco-purulent nasal discharge, serous otitis media, sinusitis, and epistaxis. Rhabdomyosarcoma is the second most common ENT neoplasm in children, following lymphoma, with an incidence of approximately 6 cases per 1,000,000 annually. This report presents the case of an 8-year-old boy diagnosed with aRMS, accompanied by a literature review. Alveolar rhabdomyosarcoma should be suspected in children presenting with a vegetative tumor in the rhinopharynx or paranasal sinuses. Combined treatment approaches (surgery, radiotherapy, and chemotherapy) should be tailored to tumor characteristics. Neuronavigation-guided functional endoscopic sinus surgery (FESS) is an effective option for achieving complete tumor excision, depending on tumor size and extent. The prognosis remains reserved and is contingent upon accurate evaluation and timely intervention. Rigorous follow-up, including endoscopic and imagistic investigation, is crucial for early detection of recurrences, thereby improving treatment outcomes.
肺泡状横纹肌肉瘤（aRMS）是一种罕见的儿科恶性肿瘤，预后较差，尤其是位于鼻咽部和蝶窦底部时，这会使诊断复杂化，并增加被误诊为良性生长的风险。aRMS的特定基因型与更差的临床结果相关。在幼儿中，尤其是4至12岁的儿童，鼻咽部肿块通常被归因于慢性腺样体炎；然而，也可能存在其他良性（如男孩的血管纤维瘤）和恶性肿瘤。初始症状通常包括鼻塞、黏液脓性鼻分泌物、浆液性中耳炎、鼻窦炎和鼻出血。横纹肌肉瘤是儿童中第二常见的耳鼻喉科肿瘤，仅次于淋巴瘤，年发病率约为每100万人中有6例。本报告介绍了一名8岁男孩被诊断为aRMS的病例，并伴有文献综述。对于在鼻咽部或鼻窦出现赘生性肿瘤的儿童，应怀疑为肺泡状横纹肌肉瘤。联合治疗方法（手术、放疗和化疗）应根据肿瘤特征进行调整。根据肿瘤大小和范围，神经导航引导下的功能性鼻内镜鼻窦手术（FESS）是实现肿瘤完全切除的有效选择。预后仍然不容乐观，取决于准确的评估和及时的干预。严格的随访，包括内镜和影像学检查，对于早期发现复发至关重要，从而改善治疗效果。
