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罕见年龄及非典型部位的胚胎性横纹肌肉瘤:一例报告

Embryonal rhabdomyosarcoma at an unusual age and in an atypical site: a case report.

作者信息

Kouli Ayla, Baddoura Mouna, Laflouf Miriam, Sulaiman Seham

机构信息

Faculty of Medicine, Damascus University, Damascus, Syrian Arab Republic.

Department of Hematology, National University Hospital, Damascus University, Damascus, Syrian Arab Republic.

出版信息

J Med Case Rep. 2025 Apr 7;19(1):164. doi: 10.1186/s13256-025-05202-5.

Abstract

BACKGROUND

Rhabdomyosarcoma is classified into histologic subtypes: embryonal, alveolar, pleomorphic, spindle, and mixed-type. Embryonal rhabdomyosarcoma is mainly a disease of children. It occurs rarely in adults. When rhabdomyosarcoma is found in adults, it usually exhibits worse outcomes than in pediatric patients.

CASE PRESENTATION

We present a case report of a 20-year-old Arab woman who presented with generalized musculoskeletal pain, unintended weight loss, and excessive night sweats. There was no remarkable history of medications, diseases, or surgeries. A positron emission tomography scan showed multiple osteolytic lesions with metabolic activity, as well as pleural effusion and soft tissue mass around the thoracic area. Following this, a bone marrow biopsy was performed and showed metastatic embryonal rhabdomyosarcoma according to immunochemistry stainings. Chemotherapy was started with 3 doses of vincristine, actinomycin D, and cyclophosphamide regimen for 3 months, after which a positron emission tomography scan showed a total disappearance of the soft tissue mass, but revealed metabolic activity of new foci. Therefore, the patient took another 3 doses of the vincristine, actinomycin D, and cyclophosphamide regimen, and received a total of 30 Gy of radiotherapy on the new foci.

CONCLUSION

This paper describes a case of a patient diagnosed with adult rhabdosmyosarcoma at an uncommon age and in an uncommon site; therefore, it is important to consider rhabdomyosarcoma in the differential diagnosis of patients given an abnormal presentation and unexplained findings. Early detection of the disease, which is difficult with nonspecific symptoms, is crucial for improving outcomes.

摘要

背景

横纹肌肉瘤可分为组织学亚型:胚胎型、肺泡型、多形性、梭形和混合型。胚胎型横纹肌肉瘤主要是儿童疾病。在成人中很少发生。当在成人中发现横纹肌肉瘤时,其预后通常比儿科患者更差。

病例报告

我们报告一例20岁阿拉伯女性病例,该患者出现全身肌肉骨骼疼痛、意外体重减轻和夜间盗汗过多。没有明显的用药、疾病或手术史。正电子发射断层扫描显示多个具有代谢活性的溶骨性病变,以及胸腔周围的胸腔积液和软组织肿块。在此之后,进行了骨髓活检,根据免疫化学染色显示为转移性胚胎型横纹肌肉瘤。开始使用长春新碱、放线菌素D和环磷酰胺方案进行3个疗程的化疗,为期3个月,之后正电子发射断层扫描显示软组织肿块完全消失,但发现新病灶有代谢活性。因此,患者又接受了3个疗程的长春新碱、放线菌素D和环磷酰胺方案,并对新病灶总共进行了30Gy的放射治疗。

结论

本文描述了一例在不常见的年龄和不常见的部位被诊断为成人横纹肌肉瘤的患者;因此,在对表现异常和有不明原因发现的患者进行鉴别诊断时,考虑横纹肌肉瘤很重要。早期发现这种疾病对改善预后至关重要,而由于症状不具特异性,早期发现很困难。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3197/11977918/2c6c3209825a/13256_2025_5202_Fig1_HTML.jpg

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