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Variants & evidence
25 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 |
|---|---|---|---|---|---|---|---|---|
| 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 | 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 | civic |
| 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 |
| 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 | |||||||
| CREB3L1 Fusion3 | ||||||||
| (diagnostic) | Sclerosing Epithelioid Fibrosarcoma | Diagnostic | B | Supports Positive | 3 | accepted | EID12058In this 2017 study, the authors utilized SNP arrays, expression profiling, transcriptome, and whole-exome sequencing to further characterize sclerosing epithelioid fibrosarcoma (SEF) and low-grade fi… (full text at CIViC) PMID 28939748 · Arbajian et al., 2017 · Open in CIViC | civic |
| 〃 | Sclerosing Epithelioid Fibrosarcoma | Diagnostic | C | Supports Positive | 3 | accepted | EID12057In this 2014 study, the authors compared 10 primary sclerosing epithelioid fibrosarcomas (SEF), 4 cases of low-grade fibromyxoid sarcoma (LGFMS), and one primary hybrid SEF/LGFMS. Patients with SEF ra… (full text at CIViC) PMID 24441665 · Arbajian et al., 2014 · Open in CIViC | civic |
| 〃 | Sclerosing Epithelioid Fibrosarcoma | Diagnostic | C | Supports Positive | ||||
| CREB3L2 Fusion3 | ||||||||
| (diagnostic) | Low Grade Fibromyxoid Sarcoma | Diagnostic | B | Supports Positive | 4 | accepted | EID12061RT-PCR analysis of 59 low-grade fibromyxoid sarcomas (LGFMS) and 52 non-LGFMS tumors selected for their resemblance to LGFMS (LGFMS-like tumors), identified a FUS::CREB3L2 fusion in 45 cases, a FUS::C… (full text at CIViC) PMID 17721195 · Guillou et al., 2007 · Open in CIViC | civic |
| 〃 | Low Grade Fibromyxoid Sarcoma | Diagnostic | B | Supports Positive | 3 | accepted | EID12062In this study, an RT-PCR assay detected a FUS::CREB3L2 transcript in 14 of 16 (88%) low-grade fibromyxoid sarcoma (LGFMS) cases, whereas the fusion was not detected in any of the 123 other soft-tissue… (full text at CIViC) PMID 16931951 · Matsuyama et al., 2006 · Open in CIViC | civic |
| 〃 | Low Grade Fibromyxoid Sarcoma | Diagnostic | C | Supports Positive | ||||
| NTRK1 Fusion1 | ||||||||
| Crizotinib | Infantile FibrosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID8878A mass found at birth in a patient’s left arm became enlarged at age 2 and was resected and characterized as a high-grade spindle cell sarcoma. FISH and RT-PCR did not detect any common sarcoma transl… (full text at CIViC) PMID 30709876 · Bender et al., 2019 · Open in CIViC | civic |
| NTRK3 R248C1 | ||||||||
| (diagnostic) | Infantile FibrosarcomaALIAS | Diagnostic | A | Supports Positive | 4 | rejected | EID8331This 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 |
| MET Fusion1 | ||||||||
| Cabozantinib | Infantile FibrosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID8892We describe a novel RBPMS-MET driver fusion in association with a locally aggressive IFS-like tumor. MET functions as an oncogene and, when associated with the RNA binding protein RBPMS, forms an in-f… (full text at CIViC) PMID 33028644 · Gupta et al., 2020 · Open in CIViC | civic |
| NTRK1 Fusion2 | ||||||||
| Larotrectinib | Infantile FibrosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID6103One patient with infantile fibrosarcoma and a NTRK1-SQSTM1 fusion was treated with larotrectinib and exhibited a partial response. Treatment was done within a multicentre, open-label, phase 1/2 study … (full text at CIViC) PMID 29606586 · Laetsch et al., 2018 · Open in CIViC | civic |
| 〃 | Infantile FibrosarcomaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID8865In a pediatric phase 1 trial (NCT02637687), a 2 year old with infantile fibrosarcoma of the shoulder harbored the SQSTM1-NTRK1 fusion. After two surgical resections and multiple rounds of chemotherapy… (full text at CIViC) PMID 30204247 · DuBois et al., 2018 · Open in CIViC | civic |
Data updated 8 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.
| 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 |
| 3 |
| accepted |
EID12059In this 2015 study, the authors aimed to further characterize the molecular characteristics of pure sclerosing epithelioid fibrosarcoma (SEF) and hybrid SEF/low-grade fibromyxoid sarcoma (LGFMS) lesio… (full text at CIViC) PMID 25231134 · Prieto-Granada et al., 2015 · Open in CIViC |
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| 3 |
| accepted |
EID12060In this 2014 study, the authors compared 10 primary sclerosing epithelioid fibrosarcomas (SEF), 4 cases of low-grade fibromyxoid sarcoma (LGFMS), and one primary hybrid SEF/LGFMS. Patients with LGFMS … (full text at CIViC) PMID 24441665 · Arbajian et al., 2014 · Open in CIViC |
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