Cancer Family
Benign Connective and Soft Tissue Neoplasm
CI-CAN-00000074Explore in graph →
- NCIt
- C53684
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Cancer Family
CI-CAN-00000074Explore in graph →
Variants & evidence
11 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 |
|---|---|---|---|---|---|---|---|---|
| BRAF F595L1 | ||||||||
| Vemurafenib | Histiocytoma | Predictive | D | Supports Resistance | — | submitted | EID4426In an in vitro study, a Plat-E cell line expressing a BRAF F595L mutation was associated with resistance to vemurafenib treatment, as compared to Plat-E cells expressing vector, wild-type BRAF or BRAF… (full text at CIViC) PMID 26582644 · Kordes et al., 2016 · Open in CIViC | civic |
| BRAF V600E1 | ||||||||
| Vemurafenib | Histiocytoma | Predictive | C | Supports Sensitivity Response | — | submitted | EID3789A primary central nervous system (CNS)-histiocytic sarcoma patient harboring BRAF V600E mutation was associated with improved response to vemurafenib treatment. The patient was treated with vemurafeni… (full text at CIViC) PMID 25209580 · Idbaih et al., 2014 · 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 |
| GNA11 G209P1 | ||||||||
| (prognostic) | Congenital Hemangioma | Prognostic | C | Supports Poor Outcome | 3 | submitted | EID8640An infant was diagnosed prenatally at 20 weeks gestation with segmented vascular tumors involving her liver, umbilicus, and skin of the upper back and torso. She developed congestive heart failure imm… (full text at CIViC) PMID 32255239 · Smith et al., 2020 · Open in CIViC | civic |
| GNAQ G209P1 | ||||||||
| (prognostic) | Congenital Hemangioma | Prognostic | C | Supports Poor Outcome | 3 | submitted | EID8641A 33-week gestational age male infant was prematurely delivered due to ultrasound findings of a large mass on his upper trunk. Segmentally distributed purple plaques were revealed on his right chest a… (full text at CIViC) PMID 32255239 · Smith et al., 2020 · Open in CIViC | civic |
| 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 |
| NTRK1 Fusion1 | ||||||||
| Entrectinib | Myofibroma | Predictive | C | Supports Sensitivity Response | 1 | accepted | EID11861In 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 |
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.