Rhabdomyosarcomas, malignant mesenchymal tumors of skeletal striated muscle tissue cells, are usually rare in adults. However, when they occur in this population, the prognosis is usually poor, especially if the condition is associated with molecular factors such as the PAX3-FOXO1 fusion. Here, We report a case of paratesticular alveolar rhabdomyosarcoma in an adult patient who initially complained of increased scrotal volume for two years and presented with a PAX3-FOXO1 fusion. This emphasizes the dire prognosis of the disease, reinforcing the need for thorough and directed diagnostic efforts.
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http://dx.doi.org/10.7759/cureus.71279 | DOI Listing |
Cureus
October 2024
Oncology, Pontifícia Universidade Católica Do Rio Grande Do Sul, Porto Alegre, BRA.
Rhabdomyosarcomas, malignant mesenchymal tumors of skeletal striated muscle tissue cells, are usually rare in adults. However, when they occur in this population, the prognosis is usually poor, especially if the condition is associated with molecular factors such as the PAX3-FOXO1 fusion. Here, We report a case of paratesticular alveolar rhabdomyosarcoma in an adult patient who initially complained of increased scrotal volume for two years and presented with a PAX3-FOXO1 fusion.
View Article and Find Full Text PDFOncogene
October 2024
Medical Scientist Training Program, University of Colorado Anschutz Medical Campus (UC-AMC), Aurora, CO, USA.
Rhabdomyosarcoma (RMS), a malignancy of impaired myogenic differentiation, is the most common soft tissue pediatric cancer. PAX3-FOXO1 oncofusions drive the majority of the clinically more aggressive fusion-positive rhabdomyosarcoma (FP-RMS). Recent studies have established an epigenetic basis for PAX3-FOXO1-driven oncogenic processes.
View Article and Find Full Text PDFSci Rep
September 2024
Center for Childhood Cancer Research, The Abigail Wexner Research Institute, Nationwide Children's Hospital, 575 Children's Crossroad, Columbus, OH, 43215, USA.
The study of cooperating genes in cancer can lead to mechanistic understanding and identifying potential therapeutic targets. To facilitate these types of studies, we developed a new dual-inducible system utilizing the tetracycline- and cumate-inducible systems driving HES3 and the PAX3::FOXO1 fusion-oncogene, respectively, as cooperating genes from fusion-positive rhabdomyosarcoma. With this model, we can independently induce expression of either HES3 or PAX3::FOXO1, as well as simultaneously induce expression of both genes.
View Article and Find Full Text PDFAlveolar rhabdomyosarcoma (ARMS) patients harboring PAX3-FOXO1 and PAX7-FOXO1 fusion proteins exhibit a greater incidence of tumor relapse, metastasis, and poor survival outcome, thereby underscoring the urgent need to develop effective therapies to treat this subtype of childhood cancer. To uncover mechanisms that contribute to tumor initiation, we developed a novel muscle progenitor model and used epigenomic approaches to unravel genome re-wiring events mediated by PAX3/7 fusion proteins. Importantly, these regulatory mechanisms are conserved across established ARMS cell lines, primary tumors, and orthotopic-patient derived xenografts.
View Article and Find Full Text PDFSci Rep
August 2024
Children's Cancer Therapy Development Institute, 9025 NE Von Neumann Drive Ste 110, Hillsboro, OR, 97006, USA.
Rhabdomyosarcoma (RMS) is the most common childhood soft tissue sarcoma. For the alveolar subtype (ARMS), the presence of the PAX3::FOXO1 fusion gene and/or metastases are strong predictors of poor outcome. Metastatic PAX3::FOXO1 ARMS often responds to chemotherapies initially, only to subsequently relapse and become resistant with most patients failing to survive beyond 8 years post-diagnosis.
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