{ "id": "H00037", "disease": { "id": "H00037", "names": [ "Rhabdomyosarcoma" ], "dbLinks": { "icd10": [ "C49" ], "mesh": [ "D018232" ] }, "category": "Cancer", "description": "Rhabdomyosarcomas (RMSs) are soft tissue sarcomas that are one of the most common neoplasms in children and adolescents. RMSs are presumed to be associated with the skeletal muscle lineage, although those tumors can be present in organs histologically lacking skeletal muscle, like prostate, urinary bladder or gallbladder. RMS is divided into two major subtypes: embryonal (ERMS) and alveolar (ARMS). Alveolar rhabdomyosarcoma (ARMS) is a pediatric sarcoma that typically occurs in older children predominantly arising in the trunk and extremities, and exhibits a worse prognosis than other types of RMSs. ARMS is associated with 2;13 or 1;13 chromosomal translocations, which generate PAX3-FOXO1A and PAX7-FOXO1A fusion products, respectively. These translocations result in altered expression, function, and subcellular localization of the fusion products relative to the wild-type proteins, and ultimately contribute to oncogenic behavior by modifying growth, differentiation, and apoptosis pathways." }, "riskFactors": [ { "text": "neuroblastoma, rhabdomyosarcoma, or bone/cartilage cancer", "score": 13.703069686889648, "articlesIDs": [ "33533203" ] }, { "text": "use of prenatal hematinics/iron supplements", "score": 13.660268783569336, "articlesIDs": [ "32851243" ] }, { "text": "bk virus in the urine", "score": 13.627668380737305, "articlesIDs": [ "23954584" ] }, { "text": "germline mutations in ras signalling pathway genes", "score": 13.625127792358398, "articlesIDs": [ "25742478" ] }, { "text": "use of prenatal hematinics/iron supplements, and higher parity", "score": 13.588574409484863, "articlesIDs": [ "32851243" ] }, { "text": "patients with acute lymphoid leukemia (in relapse), neuroblastoma", "score": 13.546358108520508, 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10.138097763061523, "articlesIDs": [ "33002193" ] }, { "text": "nf", "score": 10.12955093383789, "articlesIDs": [ "3155239" ] }, { "text": "fat mass and obesity-associated protein", "score": 10.094667434692383, "articlesIDs": [ "33243845" ] }, { "text": "youngest patients was higher for those with embryonal rhabdomyosarcoma", "score": 10.039647102355957, "articlesIDs": [ "26193998" ] }, { "text": "family history that suggested the li-fraumeni syndrome (lfs)", "score": 10.025616645812988, "articlesIDs": [ "8426203" ] }, { "text": "first-degree relative who was younger at diagnosis of cancer (\u003c30 years)", "score": 9.974888801574707, "articlesIDs": [ "25809884" ] }, { "text": "chemotherapy-sensitive", "score": 9.931477546691895, "articlesIDs": [ "24752471" ] }, { "text": "in young mothers of patients with rhabdomyosarcoma", "score": 9.89212417602539, "articlesIDs": [ "8839555" ] }, { "text": "mothers of children with soft tissue sarcoma", "score": 9.891984939575195, "articlesIDs": [ 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}, { "text": "pediatric patient with dmd", "score": 8.878510475158691, "articlesIDs": [ "34805447" ] }, { "text": "non-hodgkin lymphoma (nhl) in 8, hodgkin disease (hd)", "score": 8.794645309448242, "articlesIDs": [ "18989155" ] }, { "text": "puberty with age differences between boys and girls", "score": 8.725133895874023, "articlesIDs": [ "8333423" ] }, { "text": "the youngest patients was higher for those with embryonal rhabdomyosarcoma", "score": 8.723165512084961, "articlesIDs": [ "26193998" ] }, { "text": "older age at presentation", "score": 8.697555541992188, "articlesIDs": [ "28590782" ] }, { "text": "rhabdomyosarcoma, clear cell sarcoma, epithelioid sarcoma", "score": 8.67194938659668, "articlesIDs": [ "29529647" ] }, { "text": "rs9937053 near (fat mass and obesity-associated protein", "score": 8.596776962280273, "articlesIDs": [ "33243845" ] }, { "text": "subtle genetic polymorphisms", "score": 8.569486618041992, "articlesIDs": [ "12580371" ] }, { "text": "noonan syndrome 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"20522432" ] }, { "text": "rs185932673 near (calcium/calmodulin-dependent protein kinase id)", "score": 8.236124038696289, "articlesIDs": [ "33243845" ] }, { "text": "skin in the area of malformations", "score": 8.227054595947266, "articlesIDs": [ "31045469" ] } ] }