Cancer Family
Musculoskeletal Neoplasm
CI-CAN-00000278Explore in graph →
- NCIt
- C166354
Loading cancer entity…
Cancer Family
CI-CAN-00000278Explore in graph →
Variants & evidence
65 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| BRCA2 Deletion + PTEN Deletion + TP53 DeletionBRCA2TP53PTEN1 | ||||||||
| Olaparib | Uterine Corpus LeiomyosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID11319In this case study, the patient, a 54-year-old African woman, presented with pelvic pain in May 2019 and was found to have a solid heterogeneous pelvic mass with areas of fluid and hemorrhagic density… (full text at CIViC) PMID 33970096 · Pan et al., 2021 · Open in CIViC | civic |
| PTPRD V253I1 | ||||||||
| Cixutumumab + TeprotumumabSubstitutes | Bone Ewing SarcomaALIAS | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID1856Report of complete response to IGF1-R antibody, with or without mTOR inhibitor tensirolimus in 2/3 Ewing Sarcoma patients with germline PTPRD mutations (V253I and W775*, R995C). The third patient had … (full text at CIViC) PMID 23800680 · Jiang et al., 2013 · Open in CIViC | civic |
| STAG2 MUTATION1 | ||||||||
| (prognostic) | Bone Ewing SarcomaALIAS | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1697In a study of 96 Ewing sarcoma tumors, 15% showed heterogenous loss of STAG2 expression in IHC analysis. Of those with STAG2 expression loss, 88% presented with metastatic disease compared to only 27… (full text at CIViC) PMID 25186949 · Crompton et al., 2014 · Open in CIViC | civic |
| TP53 ALTERATION1 | ||||||||
| (prognostic) | Rhabdomyosarcoma | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID9594This study evaluated 641 cases of rhabdomyosarcoma (RMS) that were enrolled in the Children’s Oncology Group (COG) trials from 1998 to 2017 and the UK malignant mesenchymal tumor and RMS2005 trails fr… (full text at CIViC) PMID 34166060 · Shern et al., 2021 · Open in CIViC | civic |
| VGLL2 Fusion4 | ||||||||
| (prognostic) | Spindle Cell Rhabdomyosarcoma | Prognostic | B | Supports Better Outcome | 4 | accepted | EID11568In this 2017 study, the authors analyzed molecular features of 26 pediatric spindle cell and sclerosing rhabdomyosarcoma (SRMS) cases. The cohort included 11 congenital/infantile patients (age 0–1 yea… (full text at CIViC) PMID 26501226 · Alaggio et al., 2016 · Open in CIViC | civic |
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 3 | accepted | EID11565In this 2015 study, the authors analyzed 26 pediatric spindle cell and sclerosing rhabdomyosarcoma (SRMS) cases, including 11 congenital/infantile cases, using a combination of RNA sequencing, FISH, t… (full text at CIViC) PMID 26501226 · Alaggio et al., 2016 · Open in CIViC | civic |
| 〃 | Spindle Cell Rhabdomyosarcoma | Diagnostic | C | Supports Positive | 4 | |||
| NCOA2 Fusion5 | ||||||||
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID12699In this 2025 retrospective study, 14 spindle cell rhabdomyosarcoma (SCRMS) cases previously identified as possessing ZFP64::NCOA2 or ZFP64::NCOA3 fusions were pulled from clinical archives to assess c… (full text at CIViC) PMID 41075874 · Dehner et al., 2025 · Open in CIViC | civic |
| 〃 | Spindle Cell Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 3 | accepted | EID11566In this 2016 study, the authors analyzed 26 pediatric spindle and sclerosing rhabdomyosarcomas (SRMS) using FISH, targeted DNA, and whole transcriptome sequencing to define their molecular landscape. … (full text at CIViC) PMID 26501226 · Alaggio et al., 2016 · Open in CIViC | civic |
| (prognostic) | Spindle Cell Rhabdomyosarcoma | Prognostic | B | Supports Better Outcome | 3 | |||
| TFCP2 Fusion2 | ||||||||
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 3 | accepted | EID12335In this study, the authors investigated the diagnostic role of TFCP2 fusions in spindle cell/sclerosing rhabdomyosarcoma (SC/S-RMS), a rare and aggressive subtype of rhabdomyosarcoma. While SC/S-RMS e… (full text at CIViC) PMID 31383960 · Le Loarer et al., 2020 · Open in CIViC | civic |
| 〃 | Spindle Cell Rhabdomyosarcoma | Diagnostic | C | Supports Positive | 4 | accepted | EID12325This study investigated the role of TFCP2-related gene fusions in primary intraosseous rhabdomyosarcomas (PIOS), particularly within spindle cell and sclerosing rhabdomyosarcoma subtypes. The analysis… (full text at CIViC) PMID 30720533 · Agaram et al., 2019 · Open in CIViC | civic |
Data updated 13 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
| accepted |
EID12870In this 2020 study, the authors analyzed clinical, histopathologic, and RNA sequencing data from 37 infants with rhabdomyosarcoma (RMS) diagnosed before six months of age. The median age of the cohort… (full text at CIViC) PMID 32087612 · Butel et al., 2020 · Open in CIViC |
| civic |
| 〃 | Spindle Cell Rhabdomyosarcoma | Diagnostic | C | Supports Positive | 3 | accepted | EID12871In this 2021 study, the authors analyzed clinical, pathologic, molecular, and radiologic features of 4 pediatric patients with VGLL2-rearranged infantile sclerosing and spindle-cell rhabdomyosarcoma (… (full text at CIViC) PMID 33949344 · Cyrta et al., 2021 · Open in CIViC | civic |
| accepted |
EID11567This study looked at 26 spindle cell and sclerosing rhabdomyosarcomas. 11 were congenital/infantile type diagnosed at birth or within one year of age, 10 of which harbored recurrent fusions involving … (full text at CIViC) PMID 26501226 · Alaggio et al., 2016 · Open in CIViC |
| civic |
| (diagnostic) | Spindle Cell Rhabdomyosarcoma | Diagnostic | B | Supports Positive | 3 | accepted | EID12727In this 2022 study, the authors included 40 patients aged ≤12 months diagnosed with spindle cell rhabdomyosarcoma (SCRMS) enrolled in international trials and registries, of whom 39 presented with loc… (full text at CIViC) PMID 35452896 · Whittle et al., 2022 · Open in CIViC | civic |
| 〃 | Spindle Cell Rhabdomyosarcoma | Diagnostic | C | Supports Positive | 3 | accepted | EID12731In this 2013 study, the authors included 21 spindle cell and sclerosing rhabdomyosarcomas (RMS), and a control group of 4 embryonal RMS and 3 ectomesenchymomas. RNA sequencing and FISH were utilized t… (full text at CIViC) PMID 23463663 · Mosquera et al., 2013 · Open in CIViC | civic |