{"title":"Embryonal rhabdomyosarcoma at an unusual age and in an atypical site: a case report.","authors":"Ayla Kouli, Mouna Baddoura, Miriam Laflouf, Seham Sulaiman","doi":"10.1186/s13256-025-05202-5","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"164"},"PeriodicalIF":0.9000,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11977918/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s13256-025-05202-5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍:
JMCR is an open access, peer-reviewed online journal that will consider any original case report that expands the field of general medical knowledge. Reports should show one of the following: 1. Unreported or unusual side effects or adverse interactions involving medications 2. Unexpected or unusual presentations of a disease 3. New associations or variations in disease processes 4. Presentations, diagnoses and/or management of new and emerging diseases 5. An unexpected association between diseases or symptoms 6. An unexpected event in the course of observing or treating a patient 7. Findings that shed new light on the possible pathogenesis of a disease or an adverse effect