Subtype
Bone Neoplasm
CI-CAN-00000569Explore in graph →
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Subtype
CI-CAN-00000569Explore in graph →
Variants & evidence
17 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 |
|---|---|---|---|---|---|---|---|---|
| CASP8 Overexpression1 | ||||||||
| Conatumumab | Bone Ewing SarcomaALIAS | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID831In-vitro and in-vivo sensitivity to DR5 antibody conatumumab was correlated with expression of caspase-8. PMID 26291055 · Kang et al., 2015 · Open in CIViC | civic |
| FLI1 Fusion3 | ||||||||
| (diagnostic) | Bone Ewing SarcomaALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID1752A total of 85 unrelated cases of Ewing's sarcoma were examined and 83% were found to harbor the t(11;22)(q24;q12) chromosomal abnormality knwon to result in the EWSR1::FLI1 fusion. PMID 3163261 · Turc-Carel et al., 1988 · Open in CIViC | civic |
| 〃 | Bone Ewing SarcomaALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID1754An evaluation of alternative strategies for detection of EWS-FLI (FISH break apart, FISH fusion, and RT-PCR). Of the 22 informative EWS/PNETs, 20 cases (91%) were positive by FISH break apart, FISH f… (full text at CIViC) PMID 16258512 · Bridge et al., 2006 · Open in CIViC | civic |
| 〃 | Bone Ewing SarcomaALIAS | Diagnostic | ||||||
| FGFR1 Amplification1 | ||||||||
| Ponatinib | Bone Ewing SarcomaALIAS | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1247116 Ewing's sarcoma tumor samples were analyzed in this study. 2 patient's samples underwent whole genome sequencing, tumor samples from 51 patients underwent exome sequencing and expression analysis,… (full text at CIViC) PMID 26179511 · Agelopoulos et al., 2015 · Open in CIViC | civic |
| FGFR1 N546K1 | ||||||||
| Ponatinib | Bone Ewing SarcomaALIAS | Predictive | E | Supports Sensitivity Response | 2 | accepted | EID1246116 Ewing's sarcoma tumor samples were analyzed in this study. 2 patient's samples underwent whole genome sequencing, tumor samples from 51 patients underwent exome sequencing and expression analysis,… (full text at CIViC) PMID 26179511 · Agelopoulos et al., 2015 · Open in CIViC | civic |
| FOSB Rearrangement2 | ||||||||
| (diagnostic) | Osteoblastoma | Diagnostic | C | Supports Positive | 2 | rejected | EID11597Whole-genome DNA and RNA sequencing in 5 osteoblastomas and 1 osteoid osteoma identified FOS rearrangements in 5 tumors (4 osteoblastoma and 1 osteoid osteoma) and a FOSB rearrangement in 1 osteoblast… (full text at CIViC) PMID 29858576 · Fittall et al., 2018 · Open in CIViC | civic |
| 〃 | Osteoblastoma | Diagnostic | C | Supports Positive | 2 | accepted | EID11787This study investigated two cases of osteoblastoma to identify genetic aberrations using cytogenetic analysis, RNA sequencing, and molecular analyses. In the first case, a FOS::ANKH fusion transcript… (full text at CIViC) PMID 32108038 · Panagopoulos et al., 2020 · Open in CIViC | civic |
| FOS Rearrangement2 | ||||||||
| (diagnostic) | Osteoblastoma | Diagnostic | B | Supports Positive | 4 | accepted | EID11596Whole-genome DNA and RNA sequencing of 5 osteoblastomas and 1 osteoid osteoma identified FOS rearrangements in 5 tumors (4 osteoblastomas and 1 osteoid osteoma) and a FOSB rearrangement in 1 osteoblas… (full text at CIViC) PMID 29858576 · Fittall et al., 2018 · Open in CIViC | civic |
| 〃 | Osteoblastoma | Diagnostic | B | Supports Positive | 3 | accepted | EID11786The study evaluated FOS and FOSB immunohistochemistry (IHC) in osteoid osteoma (n=23), osteoblastoma (n=22), and other bone tumor types to gauge the specificity of FOS/FOSB IHC for diagnosing these tu… (full text at CIViC) PMID 31768625 · Lam et al., 2020 · Open in CIViC | civic |
| FOS Fusion1 | ||||||||
| (diagnostic) | Bone Epithelioid Hemangioma | Diagnostic | C | Supports Positive | 3 | accepted | EID1802FOS was found fused with 3 different genes in 3 cases of bone epithelioid hemangioma. The fusion partners were not recurrent, respectively MBNL1, VIM and a lincRNA. The truncation of the FOS gene wou… (full text at CIViC) PMID 26173738 · van IJzendoorn et al., 2015 · Open in CIViC | civic |
| H3-3A G35W3 | ||||||||
| (diagnostic) | Giant Cell Tumor of BoneALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID6469In this study, the authors analyzed 53 cases of giant cell tumour of bone using capillary sequencing and massively parallel sequencing. They identified histone 3.3 mutations in 49/53 cases (92%). All … (full text at CIViC) PMID 24162739 · Behjati et al., 2013 · Open in CIViC | civic |
| 〃 | Giant Cell Tumor of BoneALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12749In this 2015 study, formalin-fixed paraffin-embedded (FFPE) tissue samples were retrieved from the diagnostic pathology archives of the Royal National Orthopaedic Hospital (RNOH) and the Basel Bone Tu… (full text at CIViC) PMID 27499898 · Presneau et al., 2015 · Open in CIViC | civic |
| 〃 | Giant Cell Tumor of BoneALIAS | |||||||
| H3-3B K36M1 | ||||||||
| (diagnostic) | Chondroblastoma | Diagnostic | B | Supports Positive | 4 | accepted | EID6463Behjati et al identified K36M mutations in a set of 77 chondroblastomas. Chondroblastoma is a typically a pediatric or early adult cancer. Of the 77, 5 had K36M mutations in H3F3A, 68 had K36M in H3F3… (full text at CIViC) PMID 24162739 · Behjati et al., 2013 · 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 |
Data updated 23 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.
| B |
| Supports Positive |
| 2 |
| accepted |
EID1753The authors propose RT-PCR as a diagnostic test for Ewing sarcoma using FFPE materials. Starting with 40 cases, intact RNA could be isolated from 6, and of these the EWSR1-FLI1 fusion was detected in… (full text at CIViC) PMID 9741544 · Park et al., 1998 · Open in CIViC |
| civic |
| Diagnostic |
| B |
| Supports Positive |
| 3 |
| accepted |
EID12750In this 2015 study, formalin-fixed, paraffin-embedded (FFPE) tumor samples diagnosed between 1996 and 2014 as giant cell tumor of bone (GCTB), chondroblastoma, chondromyxoid fibroma, aneurysmal bone c… (full text at CIViC) PMID 26457357 · Cleven et al., 2015 · Open in CIViC |
| civic |