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

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...

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Main Authors: Ayla Kouli, Mouna Baddoura, Miriam Laflouf, Seham Sulaiman
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Journal of Medical Case Reports
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Online Access:https://doi.org/10.1186/s13256-025-05202-5
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author Ayla Kouli
Mouna Baddoura
Miriam Laflouf
Seham Sulaiman
author_facet Ayla Kouli
Mouna Baddoura
Miriam Laflouf
Seham Sulaiman
author_sort Ayla Kouli
collection DOAJ
description 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.
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spelling doaj-art-291275b327d04e8c8eebad19808a0a4f2025-08-20T03:10:07ZengBMCJournal of Medical Case Reports1752-19472025-04-011911710.1186/s13256-025-05202-5Embryonal rhabdomyosarcoma at an unusual age and in an atypical site: a case reportAyla Kouli0Mouna Baddoura1Miriam Laflouf2Seham Sulaiman3Faculty of Medicine, Damascus UniversityFaculty of Medicine, Damascus UniversityFaculty of Medicine, Damascus UniversityFaculty of Medicine, Damascus UniversityAbstract 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.https://doi.org/10.1186/s13256-025-05202-5Adult rhabdomyosarcomaEmbryonal rhabdomyosarcomaDrug therapyRadiotherapy
spellingShingle Ayla Kouli
Mouna Baddoura
Miriam Laflouf
Seham Sulaiman
Embryonal rhabdomyosarcoma at an unusual age and in an atypical site: a case report
Journal of Medical Case Reports
Adult rhabdomyosarcoma
Embryonal rhabdomyosarcoma
Drug therapy
Radiotherapy
title Embryonal rhabdomyosarcoma at an unusual age and in an atypical site: a case report
title_full Embryonal rhabdomyosarcoma at an unusual age and in an atypical site: a case report
title_fullStr Embryonal rhabdomyosarcoma at an unusual age and in an atypical site: a case report
title_full_unstemmed Embryonal rhabdomyosarcoma at an unusual age and in an atypical site: a case report
title_short Embryonal rhabdomyosarcoma at an unusual age and in an atypical site: a case report
title_sort embryonal rhabdomyosarcoma at an unusual age and in an atypical site a case report
topic Adult rhabdomyosarcoma
Embryonal rhabdomyosarcoma
Drug therapy
Radiotherapy
url https://doi.org/10.1186/s13256-025-05202-5
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AT mounabaddoura embryonalrhabdomyosarcomaatanunusualageandinanatypicalsiteacasereport
AT miriamlaflouf embryonalrhabdomyosarcomaatanunusualageandinanatypicalsiteacasereport
AT sehamsulaiman embryonalrhabdomyosarcomaatanunusualageandinanatypicalsiteacasereport