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Variants & evidence
18 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|
| APC Mutation + CTNNB1 Activating MutationAPCCTNNB11 | |||||||
| Nirogacestat | Predictive | A | Supports Sensitivity Response | 2 | submitted | EID12023In a phase 3 trial (NCT03785964) involving 142 adults with progressing desmoid tumors, the gamma-secretase inhibitor nirogacestat demonstrated a significant progression-free survival benefit compared … (full text at CIViC) PMID 36884323 · Gounder et al., 2023 · Open in CIViC | civic |
| CTNNB1 Exon 3 Mutation3 | |||||||
| (prognostic) | Prognostic | B | Does Not Support Poor Outcome | 4 | accepted | EID7784This study illustrates the prevalence of CTNNB1 mutations in sporadic desmoid tumors, and examines whether the presence of CTNNB1 mutations correlates with the disease outcome. CTNNB1 mutations (inclu… (full text at CIViC) PMID 23960186 · Mullen et al., 2013 · Open in CIViC | civic |
| (diagnostic) | Diagnostic | B | Supports Positive | 4 | submitted | EID12114An analysis of 260 typical desmoid tumors and 191 cases of spindle cell lesions (which can be difficult to distinguish morphologically from desmoid tumors) identified CTNNB1 mutations in 88% of desmoi… (full text at CIViC) PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC | civic |
| 〃 | Diagnostic | B | Supports Positive | 4 | submitted | EID12115Exon 3 sequencing of CTNNB1 in 101 extra-abdominal desmoid fibromatosis revealed mutation rates of 87% including T41A (39.5%), S45P (9%), S45F (36.5%), and deletion (2%). | |
| CTNNB1 S45F6 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 4 | accepted | EID2974Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutat… (full text at CIViC) PMID 18832571 · Lazar et al., 2008 · Open in CIViC | civic |
| 〃 | Diagnostic | B | Supports Positive | 4 | accepted | EID5071In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in CTNNB1. A mutation in exon 3 of the CTNNB1 gene was identified in 223 (88%) of the 254 cases. The C… (full text at CIViC) PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC | civic |
| (prognostic) | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID9788This was a multi-institutional retrospective cohort study which looked at the prognostic value of CTNNB1 gene mutations in aggressive fibromatosis (also known as desmoid tumor). The study analyzed 101… | |
| CTNNB1 S45P3 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 3 | accepted | EID2975Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutat… (full text at CIViC) PMID 18832571 · Lazar et al., 2008 · Open in CIViC | civic |
| 〃 | Diagnostic | B | Supports Positive | 3 | accepted | EID5072In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in CTNNB1. A mutation in exon 3 of the CTNNB1 gene was identified in 223 (88%) of the 254 cases. The C… (full text at CIViC) PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC | civic |
| (prognostic) | Prognostic | B | Supports Better Outcome | 1 | accepted | EID3043Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutat… | |
| CTNNB1 T41A5 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 4 | accepted | EID2973Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutat… (full text at CIViC) PMID 18832571 · Lazar et al., 2008 · Open in CIViC | civic |
| 〃 | Diagnostic | B | Supports Positive | 4 | accepted | EID5070In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in CTNNB1. A mutation in exon 3 of the CTNNB1 gene was identified in 223 (88%) of the 254 cases. The C… (full text at CIViC) PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC | civic |
| (prognostic) | Prognostic | B | Supports Better Outcome | 3 | accepted | EID3044In an analysis of 138 desmoid fibromatosis tumors, which is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence, 117 tumors (85%) had CTNNB1 mutations. Three discrete… | |
Data updated 21 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.
PMID 20197769 · Dômont et al., 2010 · Open in CIViC
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PMID 25341748 · van Broekhoven et al., 2015 · Open in CIViC
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| 〃 | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID2976Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutat… (full text at CIViC) PMID 18832571 · Lazar et al., 2008 · Open in CIViC | civic |
| Imatinib | Predictive | B | Supports Sensitivity Response | 2 | submitted | EID11018Retrospective analysis of a phase 2 trial of imatinib in desmoid tumors. Among 33 evaluable patients,CTNBB1 T41A mutations were identified in 30,3%, S45 mutations were identified in 48.5 %, whereas C… (full text at CIViC) PMID 26861905 · Kasper et al., 2016 · Open in CIViC | civic |
| Meloxicam | Predictive | C | Does Not Support Sensitivity Response | 2 | accepted | EID6049Of the 33 patients with desmoid fibromatosis treated with meloxicam, a COX-2 selective inhibitor, one showed complete remission (CR), 7 partial remission (PR), 12 stable disease (SD), and 13 progressi… (full text at CIViC) PMID 24788118 · Hamada et al., 2014 · Open in CIViC | civic |
PMID 18832571 · Lazar et al., 2008 · Open in CIViC
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PMID 18832571 · Lazar et al., 2008 · Open in CIViC
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| Celecoxib | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID6048A 39-year-old man with soft-tissue mass between fifth and sixth rib on the right side. The entire mass was excised and an aggressive fibrosis was confirmed based on histopathology. Four months after s… (full text at CIViC) PMID 28881160 · Yang et al., 2017 · Open in CIViC | civic |
| Meloxicam | Predictive | B | Supports Sensitivity Response | 2 | submitted | EID6050Of the 33 patients with desmoid fibromatosis treated with meloxicam, a COX-2 selective inhibitor, one showed complete remission (CR), 7 partial remission (PR), 12 stable disease (SD), and 13 progressi… (full text at CIViC) PMID 24788118 · Hamada et al., 2014 · Open in CIViC | civic |