Cancer Family
Fibroblastic Neoplasm
CI-CAN-00000181Explore in graph →
Non-malignant45 active trials52 evidence items
- NCIt
- C7075
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Cancer Family
CI-CAN-00000181Explore in graph →
Variants & evidence
81 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 |
|---|---|---|---|---|---|---|---|---|
| ALK F1174L + ALK Fusion1 | ||||||||
| Crizotinib | Inflammatory Myofibroblastic Tumor | Predictive | C | Supports Resistance | 3 | accepted | EID32In a patient with RANBP2::ALK-positive inflammatory myofibroblastic tumor, acquisition of the ALK F1174L mutation following crizotinib treatment was associated with acquired resistance. Ba/F3 studies … (full text at CIViC) PMID 21030459 · Sasaki et al., 2010 · Open in CIViC | civic |
| APC Mutation + CTNNB1 Activating MutationAPCCTNNB11 | ||||||||
| Nirogacestat | Desmoid FibromatosisALIAS | 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 |
| CDKN2A Loss1 | ||||||||
| Palbociclib | Dermatofibrosarcoma Protuberans | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID1881An imatinib-resistant cell line, DFSP105, was established from a dermatofibrosarcoma protuberans which had progressed to a high-grade fibrosarcomatous DFSP. The disease-associated COL1A1-PDGFB fusion … (full text at CIViC) PMID 25852058 · Eilers et al., 2015 · Open in CIViC | civic |
| PDGFB Fusion12 | ||||||||
| (diagnostic) | Dermatofibrosarcoma Protuberans | Diagnostic | B | Supports Positive | 4 | accepted | EID9787This study analyzed 27 formalin-fixed-paraffin-embedded samples of patients with known dermatofibrosarcoma protuberans (DFSP) using a newly designed multiplex RT-PCR assay. The assay identified COL1A1… (full text at CIViC) PMID 17950782 · Patel et al., 2008 · Open in CIViC | civic |
| 〃 | Dermatofibrosarcoma Protuberans | Diagnostic | B | Supports Positive | 4 | accepted | EID12417The authors studied 27 archival formalin-fixed, paraffin-embedded (FFPE) samples of dermatofibrosarcoma protuberans (DFSP) cases obtained from Texas Children's Hospital and University of Texas MD Ande… (full text at CIViC) PMID 17950782 · Patel et al., 2008 · Open in CIViC | civic |
| 〃 | Dermatofibrosarcoma Protuberans | Diagnostic | B | Supports Positive | ||||
| CTNNB1 Exon 3 Mutation3 | ||||||||
| (prognostic) | Desmoid FibromatosisALIAS | 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) | Desmoid FibromatosisALIAS | 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 |
| 〃 | Desmoid FibromatosisALIAS | |||||||
| CTNNB1 S45F6 | ||||||||
| (diagnostic) | Desmoid FibromatosisALIAS | 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 |
| 〃 | Desmoid FibromatosisALIAS | 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) | Desmoid FibromatosisALIAS | |||||||
| CTNNB1 S45P3 | ||||||||
| (diagnostic) | Desmoid FibromatosisALIAS | 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 |
| 〃 | Desmoid FibromatosisALIAS | 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) | Desmoid FibromatosisALIAS | |||||||
| CTNNB1 T41A5 | ||||||||
| (diagnostic) | Desmoid FibromatosisALIAS | 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 |
| 〃 | Desmoid FibromatosisALIAS | 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) | Desmoid FibromatosisALIAS | |||||||
| ALK Fusion2 | ||||||||
| Crizotinib + PazopanibCombination | Inflammatory Myofibroblastic Tumor | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID10932A patient with a recurrent, metastatic uterine myxoid neoplasm and a DCTN1-ALK fusion experienced both clinical and radiographic improvement with crizotinib and pazopanib. The patient was initially di… (full text at CIViC) PMID 26062823 · Subbiah et al., 2015 · Open in CIViC | civic |
| Entrectinib | Inflammatory Myofibroblastic Tumor | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID11856In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included a patient with inflammat… (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC | civic |
| BRAF Fusion1 | ||||||||
| (oncogenic) | Lipofibromatosis | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID11020This study, involving 20 pediatric patients, looked at molecular alterations in Lipofibromatosis. RNA sequencing detected EGFR::BRAF fusion in Patient 19 (6-year-old male). The fusion was picked up by… (full text at CIViC) PMID 30310176 · Al-Ibraheemi et al., 2019 · Open in CIViC | civic |
| PDGFD Fusion1 | ||||||||
| (diagnostic) | Dermatofibrosarcoma Protuberans | Diagnostic | C | Supports Positive | 3 | submitted | EID11732In a cohort of 20 patients with dermatofibrosarcoma protuberans that were previously negative for COL1A1::PDGFB fusion with fluorescence in situ hybridization, RNA-sequencing was applied. novel and re… (full text at CIViC) PMID 29955147 · Dadone-Montaudié et al., 2018 · Open in CIViC | civic |
| NTRK3 Fusion4 | ||||||||
| (diagnostic) | Infantile FibrosarcomaALIAS | Diagnostic | C | Supports Positive | 3 | accepted | EID10419To determine if EML4::NTRK3 fusions were recurrent in tumors types known to harbor ETV6::NTRK3 fusions, the authors screened 63 cases with varying diagnoses (infantile fibrosarcoma, congenital mesobla… (full text at CIViC) PMID 29099503 · Church et al., 2018 · Open in CIViC | civic |
| 〃 | Infantile FibrosarcomaALIAS | Diagnostic | C | Supports Positive | 3 | accepted | EID11517This case study detailed a 9-month-old male with congenital fibrosarcoma with subsequent metastasis to the lungs. The patient had a history of hemimelia in the same limb as the congenital fibrosarcoma… (full text at CIViC) PMID 27148571 · Tannenbaum-Dvir et al., 2015 · Open in CIViC | civic |
| (oncogenic) | Infantile FibrosarcomaALIAS | |||||||
| EML6 EML6::NTRK31 | ||||||||
| (diagnostic) | Infantile FibrosarcomaALIAS | Diagnostic | C | Supports Positive | 2 | rejected | EID10418EML6::NTRK3 fusion is seen in cases of Infantile fibrosarcoma and congenital mesoblastic nephroma. In general, these tumors more commonly harbor ETV6::NTRK3 fusions, therefore alternative NTRK3 fusion… (full text at CIViC) PMID 29099503 · Church et al., 2018 · Open in CIViC | civic |
| NTRK3 Fusion9 | ||||||||
| (diagnostic) | Infantile FibrosarcomaALIAS | Diagnostic | A | Supports Positive | 4 | accepted | EID8332This is the first study showing the ETV6-NTRK3 gene fusion in congenital fibrosarcoma (CFS). Using cytogenetic and FISH analyses, a novel t(12;15)(p13;q25) rearrangement was identified in CFS cases (3… (full text at CIViC) PMID 9462753 · Knezevich et al., 1998 · Open in CIViC | civic |
| 〃 | Infantile FibrosarcomaALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11276In this study, a collection of pediatric spindle cell tumors were screened for the ETV6::NTRK3 fusion by RT-PCR. 10 of 11 (91%) cases diagnosed as congenital fibrosarcoma were found to harbor the ETV… (full text at CIViC) PMID 10895816 · Bourgeois et al., 2000 · Open in CIViC | civic |
| 〃 | Infantile FibrosarcomaALIAS | |||||||
Data updated 12 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.
| 4 |
| accepted |
EID12418In this study, paraffin-embedded tissue microarray (TMA) evaluation of translocation t(17;22)(q22;q13) was performed on 40 tissue samples from 24 female and 16 male DFSP patients (37 primary tumors, 3… (full text at CIViC) PMID 21111450 · Segura et al., 2011 · Open in CIViC |
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| (oncogenic) | Dermatofibrosarcoma Protuberans | Oncogenic | B | Supports Oncogenicity | 3 | accepted | EID10314In this study, 57 cases of dermatofibrosarcoma protuberans (DFSP) were evaluated. The COL1A1-PDGFB fusion was detected in 42 (74%) out of the 57 sample after performing targeted PCR amplification and … (full text at CIViC) PMID 17431412 · Takahira et al., 2007 · Open in CIViC | civic |
| (diagnostic) | Dermatofibrosarcoma Protuberans | Diagnostic | B | Supports Positive | 3 | accepted | EID11729In this 2022 study by Peng et al., the authors performed whole-genome sequencing on 53 tumor-normal pairs from patients with Dermatofibrosarcoma Protuberans (DFSP) to define its comprehensive genomic … (full text at CIViC) PMID 35441365 · Peng et al., 2022 · Open in CIViC | civic |
| 〃 | Dermatofibrosarcoma Protuberans | Diagnostic | C | Supports Positive | 3 | accepted | EID12416The is a cytogenetic case study of a 10-year-old female with pure pigmented dermatofibrosarcoma protuberans (DFSP), also called Bednar tumor, on her right shoulder. Karyotype of tumor cells was 47,XX … (full text at CIViC) PMID 16843106 · Craver et al., 2006 · Open in CIViC | civic |
| Imatinib | Dermatofibrosarcoma Protuberans | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11271In this phase II, open-label, single-arm trial, 106 patients with 40 different malignancies were enrolled (78.5% solid tumors, 21.5% hematologic malignancies), including 12 with COL1A1-PDGFB fusion-po… (full text at CIViC) PMID 18451237 · Heinrich et al., 2008 · Open in CIViC | civic |
| Imatinib Mesylate | Dermatofibrosarcoma Protuberans | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID10336In this non-controlled phase 2 clinical trial, 25 patients with primary or recurrent Dermatofibrosarcoma Protuberans (DFSP) were recruited. Only 21 had the t(17;22) COL1A-PDGFB fusion as detected thro… (full text at CIViC) PMID 20439456 · Kérob et al., 2010 · Open in CIViC | civic |
| 〃 | Dermatofibrosarcoma Protuberans | Predictive | B | Supports Sensitivity Response | 2 | submitted | EID10332Ten patients with Dermatofibrosarcoma Protuberans (DFSP) were enrolled in phase II study to investigate the response to imatinib in locally advanced or metastatic DFSP. Eight of the ten patients had l… (full text at CIViC) PMID 15681532 · McArthur et al., 2005 · Open in CIViC | civic |
| 〃 | Dermatofibrosarcoma Protuberans | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID10334In this study, DFSP-transformed cell lines (4A and 5A) were used in-vitro and in-vivo to investigate the possibility of blocking the autocrine loop that forms as a result of the t(17;22) COL1A1-PDGFB … (full text at CIViC) PMID 11291071 · Greco et al., 2001 · Open in CIViC | civic |
| 〃 | Dermatofibrosarcoma Protuberans | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID10335In this study, NIH3T3 cell lines were used to characterize the COLIA1/PDGFB fusion protein functionally and structurally in Dermatofibrosarcoma Protuberans (DFSP). The cell lines B5/5 (COLIA1/PDGFB tr… (full text at CIViC) PMID 10446987 · Shimizu et al., 1999 · Open in CIViC | civic |
| Sunitinib | Dermatofibrosarcoma Protuberans | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID7991A 37-year-old man presented with dermatofibrosarcoma protuberans (DFSP). Post resection, multiple nodular metastases were found in both lungs and the disease progressed following treatments with cytot… (full text at CIViC) PMID 29760553 · Xiao et al., 2018 · 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%). PMID 20197769 · Dômont et al., 2010 · Open in CIViC |
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| 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… (full text at CIViC) PMID 25341748 · van Broekhoven et al., 2015 · Open in CIViC |
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| 〃 | Desmoid FibromatosisALIAS | 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 | Desmoid FibromatosisALIAS | 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 | Desmoid FibromatosisALIAS | 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 |
| 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… (full text at CIViC) PMID 18832571 · Lazar et al., 2008 · Open in CIViC |
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| 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… (full text at CIViC) PMID 18832571 · Lazar et al., 2008 · Open in CIViC |
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| Celecoxib | Desmoid FibromatosisALIAS | 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 | Desmoid FibromatosisALIAS | 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 |
| Oncogenic |
| D |
| Supports Oncogenicity |
| 4 |
| accepted |
EID10379A novel EML4::NTRK3 fusion was identified in a 9-month-old male with a recurrent congenital fibrosarcoma. The in-frame fusion transcript contained exons 1-2 of EML4 fused to exon 14 of NTRK3 which is … (full text at CIViC) PMID 27148571 · Tannenbaum-Dvir et al., 2015 · Open in CIViC |
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| Entrectinib | Infantile FibrosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID11859In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included a patient with infantile… (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC | civic |
| Diagnostic |
| B |
| Supports Positive |
| 3 |
| accepted |
EID11277In this study, the ETV6::NTRK3 fusion was detected in 7 of 10 (70%) of congenital fibrosarcomas by RT-PCR but absent in 38 other control spindle cell tumors, including adult-type fibrosarcomas, leiom… (full text at CIViC) PMID 11242790 · Sheng et al., 2001 · Open in CIViC |
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| (oncogenic) | Infantile FibrosarcomaALIAS | Oncogenic | C | Supports Oncogenicity | 3 | accepted | EID10502A novel and recurrent t(12;15)(p13;q25) translocation was identified in all three cases of congenital fibrosarcoma (CFS) studied. Molecular cloning of the breakpoints revealed that this translocation … (full text at CIViC) PMID 9462753 · Knezevich et al., 1998 · Open in CIViC | civic |
| Entrectinib | Infantile FibrosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID11858In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included a patient with infantile… (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC | civic |
| Larotrectinib | Infantile FibrosarcomaALIAS | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID6099Four out of six patients with infantile fibrosarcoma and a ETV6-NTRK3 fusion had a partial response, the remaining two had a complete response with larotrectinib. Treatment was done within a multicent… (full text at CIViC) PMID 29606586 · Laetsch et al., 2018 · Open in CIViC | civic |
| 〃 | Infantile FibrosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID7418In a pediatric phase 1 trial (NCT02637687) after initial chemotherapy failure, two ETV6-NTRK3 positive children (2 year old and 5 month old) were treated with Larotrectinib, resulting in reduced tumor… (full text at CIViC) PMID 30204247 · DuBois et al., 2018 · Open in CIViC | civic |
| 〃 | Infantile FibrosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID10717This case report describes a male infant with a recurrent (post-resection) infantile fibrosarcoma (IFS) with lymph node involvement and ETV6-NTRK3 fusion. The tumor did not respond to chemotherapy but… (full text at CIViC) PMID 32223937 · Bielack et al., 2019 · Open in CIViC | civic |
| 〃 | Infantile FibrosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID6473Nagasubramanian et al reports on a case of refractory infantile fibrosarcoma (IFS) with constitutive activation of the tropomyosin‐related kinase (TRK) signaling pathway from an ETS variant gene 6–neu… (full text at CIViC) PMID 27093299 · Nagasubramanian et al., 2016 · Open in CIViC | civic |