Benign Neoplasm

In 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

A 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

Assessment of beta-catenin mutations in a large collections of pituitary adenomas (n=60) and craniopharynangiomas (n=41), identified CTNNB1 exon 3 mutations in 77% of craniopharynangiomas, all of the … (full text at CIViC)

PMID 15891929 · Buslei et al., 2005 · Open in CIViC

Whole-exome sequencing identified CTNNB1 mutations in 11 of 12 (92%) of adamantinomatous craniopharyngiomas examined. No other recurrent mutations or genomic aberrations were identified. Targeted se… (full text at CIViC)

PMID 24413733 · Brastianos et al., 2014 · Open in CIViC

DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103). Of the eight mature teratomas that were evaluated, one had a somatic mutation in D1810Y.

PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC

A comprehensive molecular profiling (whole exome and whole transcriptome sequencing) determined that CTNNB1 I35T and FBXW11 F517S missense mutations were mutually exclusive and collectively account fo… (full text at CIViC)

PMID 40389436 · Wong et al., 2025 · Open in CIViC

Whole-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

This 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

Whole-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

The 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

FOS 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

An 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

A 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

Behjati 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

Germline loss-of-function mutations in LZTR1 is a SMARCB1-independent predisposing factor that leads to Schwannomatosis, a late-onset tumor predisposition disorder.

PMID 24362817 · Piotrowski et al., 2014 · Open in CIViC

A 12-year-old child with Neurofibromatosis 1 (NF1) with multiple cutaneous and paraspinal neurofibromas responsible for impaired walking, motor deficiency and pain. A treatment with Trametinib was ini… (full text at CIViC)

PMID 30174724 · Papalia et al., 2018 · Open in CIViC

In a pediatric phase 2 trial of the MEK inhibitor selumetinib (NCT01362803), partial responses were seen in 70% (35 of 50) children with neurofibromatosis type 1 and symptomatic inoperable plexiform n… (full text at CIViC)

PMID 32187457 · Gross et al., 2020 · Open in CIViC

Treatment with selumetinib (NCT01362803) resulted in confirmed partial, long term responses in 17 of the 24 children with NF1 associated plexiform fibromas (71%) and decreases from baseline in neurofi… (full text at CIViC)

PMID 28029918 · Dombi et al., 2016 · Open in CIViC

Ten patients with Neurofibromatosis 2 were enrolled for treatment with Everolimus. At 12 months, no patients had reduction in tumor volume >20%, however, five patients had stable disease with a reduc… (full text at CIViC)

PMID 25567352 · Goutagny et al., 2015 · Open in CIViC

This study evaluates the genetic features of melanotic schwannoma (MS). Twelve cases of MS were examined. A hybrid capture-based next-generation sequencing (NGS) assay screened the coding exons for mu… (full text at CIViC)

PMID 26031761 · Wang et al., 2015 · Open in CIViC

RT-PCR in 215 cases of Schwannomas in a diverse cohort resulted in 29 out of 215 harboring SH3PXD2A::HTRA1 fusion (in-frame fusion between SH3PXD2A (exon 6) and HTRA1 (exon 2)). Histological analysis … (full text at CIViC)

PMID 38219951 · Lee et al., 2024 · Open in CIViC

This study described the genomic landscape of sporadic schwannomas. Among the 125 cases, 12 (10%) of them were identified to bear in-frame SH3PXD2A-HTRA1 fusion with RNA-seq. The fusion was found to b… (full text at CIViC)

PMID 27723760 · Agnihotri et al., 2016 · Open in CIViC

In 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

In a molecular analysis comparing 46 apocrine cutaneous mixed tumors (CMTs) with 45 salivary gland pleomorphic adenomas (PAs), TRPS1::PLAG1 was the predominant PLAG1 fusion in CMTs and was significant… (full text at CIViC)

PMID 39468990 · Alsugair et al., 2024 · Open in CIViC