Connective and Soft Tissue Neoplasm

In this 2024 study, the authors analyzed 40 myoepithelial tumors of soft tissue and bone arising in patients ≤21 years of age. The cohort included 22 females and 18 males, with ages ranging from 3 mon… (full text at CIViC)

PMID 38782103 · Logan et al., 2024 · Open in CIViC

In this 2011 study the authors analyzed 18 cutaneous myoepithelial tumors arising in 7 female and 11 male patients, with a median age of 56 years (range 34–86 years). Tumors included 9 mixed tumors, 8… (full text at CIViC)

PMID 21725291 · Flucke et al., 2011 · Open in CIViC

In this report the authors described a 9-year-old boy with a myoepithelioma arising in the right posterior mediastinum. The tumor’s deep location is exceptionally rare, with only four well-documented … (full text at CIViC)

PMID 36190002 · Du et al., 2022 · Open in CIViC

In an analysis of a cohort of desmoplastic small round cell tumor, evidence of a functional EWSR1::WT1 fusion was detected in 25 of 26 cases. In these cases, the genomic breakpoints in WT1 was in in… (full text at CIViC)

PMID 9738572 · Gerald et al., 1998 · Open in CIViC

In an analysis of 6 desmoplastic small round cell tumors, chimeric EWSR1::WT1 transcripts were detected in 4. The translocation resulted in an in-frame fusion of the N terminus (first 7 exons) of EWS… (full text at CIViC)

PMID 7862627 · Gerald et al., 1995 · Open in CIViC

116 Ewing's sarcoma tumor samples were analyzed in this study. 2 patient's samples underwent whole genome sequencing, tumor samples from 51 patients underwent exome sequencing and expression analysis,… (full text at CIViC)

PMID 26179511 · Agelopoulos et al., 2015 · Open in CIViC

Targeting of FGFR1 by RNA interference and small-molecule inhibitors (PD173074, AZD4547, BGJ398) revealed that the requirement for FGFR1 signaling in STS cells is dictated by FGFR1 expression levels, … (full text at CIViC)

PMID 27535980 · Chudasama et al., 2017 · Open in CIViC

116 Ewing's sarcoma tumor samples were analyzed in this study. 2 patient's samples underwent whole genome sequencing, tumor samples from 51 patients underwent exome sequencing and expression analysis,… (full text at CIViC)

PMID 26179511 · Agelopoulos et al., 2015 · Open in CIViC

Clinical trial of soft tissue sarcoma patients found no responses to pazopanib + trametinib combination in Ewing sarcoma patients. Comparison was done to previously treated Ewing sarcoma that responde… (full text at CIViC)

PMID 28377484 · Subbiah et al., 2017 · Open in CIViC

Clinical trial of soft tissue sarcoma patients found no responses to pazopanib + trametinib combination in Ewing sarcoma patients. Comparison was done to previously treated Ewing sarcoma that responde… (full text at CIViC)

PMID 28377484 · Subbiah et al., 2017 · Open in CIViC

FGFR4 tyrosine kinase domain mutations were found among 7 of 94 (7.5%) primary human RMS tumors. The mutants K535 and E550 increased autophosphorylation, Stat3 signaling, tumor proliferation, and meta… (full text at CIViC)

PMID 19809159 · Taylor et al., 2009 · Open in CIViC

Indeed, cell lines expressing the highest levels of FGFR4 (above a relative level of six) were the most sensitive to ponatinib (Figure 1C, p = 0.0344). These results, therefore, suggest that increased… (full text at CIViC)

PMID 24124571 · Li et al., 2013 · Open in CIViC

FGFR4 tyrosine kinase domain mutations were found among 7 of 94 (7.5%) primary human RMS tumors. The mutants K535 and E550 increased autophosphorylation, Stat3 signaling, tumor proliferation, and meta… (full text at CIViC)

PMID 19809159 · Taylor et al., 2009 · Open in CIViC

One patient with angiosarcoma was initially treated with sorafenib, an inhibitor of VEGFR2, and developed progressive disease. The patient then received pazopanib, an inhibitor of VEGFR2 and VEGFR3 an… (full text at CIViC)

PMID 27160228 · Ravi et al., 2016 · Open in CIViC

Clinical trial of soft tissue sarcoma patients found no responses to pazopanib + trametinib combination in Ewing sarcoma patients. Comparison was done to previously treated Ewing sarcoma that respond… (full text at CIViC)

PMID 28377484 · Subbiah et al., 2017 · Open in CIViC

This case study was on a 43-year-old female patient with an FN1-ALK gene fusion. In several case reports and phase 1b/phase 2 studies, responses of ALK-positive IMTs to crizotinib have been shown. Cri… (full text at CIViC)

PMID 33007314 · Reinhart et al., 2020 · Open in CIViC

In the STARTRK-NG Phase 1/2 trial of entrectinib in pediatric patients, with extracranial solid tumors or primary CNS tumors, aged <22 years with relapsed or refractory disease, tumors with fusions… (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · 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

In this study, the authors investigated a case of pseudomyogenic hemangioendothelioma in a 33-year-old woman presenting with multifocal lytic bone lesions. Previous studies had demonstrated recurrent … (full text at CIViC)

PMID 31243110 · Panagopoulos et al., 2019 · 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

RT-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

In 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

Both RT-PCR and PCR were used to detect and confirm the presence of fusion transcripts in RNA extracted from the surgical resections of 74 liposarcomas and 98 lipomas. FUS-DDIT3 (TLS-CHOP) was found … (full text at CIViC)

PMID 20332486 · Kubo et al., 2010 · Open in CIViC

In this 1992 paper, 9 of 26 liposarcoma patients had a histopathologic diagnosis of myxoid liposarcoma. Cytogenetic analysis revealed 6 of these patients had t(12;16)(q13;p11). 2 patients had a cyt… (full text at CIViC)

PMID 1568170 · Sreekantaiah et al., 1992 · Open in CIViC

An analysis of 85 small blue round cell tumors (SBRCTs) that were negative for EWSR1, CIC, or BCOR by FISH identified 6 FUS::ERG and 1 FUS::FEV fusions. Clinicopathologic characterization of these 7 … (full text at CIViC)

PMID 26690869 · Chen et al., 2016 · Open in CIViC

An analysis of 85 small blue round cell tumors (SBRCTs) that were negative for EWSR1, CIC, or BCOR by FISH identified 6 FUS::ERG and 1 FUS::FEV fusions. Clinicopathologic characterization of these 7 … (full text at CIViC)

PMID 26690869 · Chen et al., 2016 · Open in CIViC

This analysis of small round cell tumors of the bone identified 3 with EWSR1::NFATC2 fusions and 1 with a FUS::NFATC2 fusion. The authors extended their review to an additional 45 cases in the litera… (full text at CIViC)

PMID 31078563 · Diaz-Perez et al., 2019 · Open in CIViC

This is the first study to identify the FUS::NFATC2 gene fusion. Using multi-omics approach and targeted sequencing, the authors comprehensively characterized the molecular landscape of a large cohort… (full text at CIViC)

PMID 25010205 · Brohl et al., 2014 · Open in CIViC

This 2018 study highlighted the diagnostic role of the FUS::TFCP2 fusion in spindle cell/sclerosing rhabdomyosarcoma (sRMS) through a single-case study of a primary spindle cell rhabdomyosarcoma of bo… (full text at CIViC)

PMID 29758589 · Dashti et al., 2018 · Open in CIViC

A 31 year old male initially thought to have a mandibular osteosarcoma that was resected and treated with adjuvant radiation and cisplatin-doxorubicin. He had a mandibular recurrence with multiple pul… (full text at CIViC)

PMID 39302072 · Csizmok et al., 2024 · Open in CIViC

A 31 year old male initially thought to have a mandibular osteosarcoma that was resected and treated with adjuvant radiation and cisplatin-doxorubicin. He had a mandibular recurrence with multiple pul… (full text at CIViC)

PMID 39302072 · Csizmok et al., 2024 · 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

In this study, the authors analyzed 53 cases of giant cell tumour of bone using capillary sequencing and massively parallel sequencing. They identified histone 3.3 mutations in 49/53 cases (92%). All … (full text at CIViC)

PMID 24162739 · Behjati et al., 2013 · Open in CIViC

In this 2015 study, formalin-fixed paraffin-embedded (FFPE) tissue samples were retrieved from the diagnostic pathology archives of the Royal National Orthopaedic Hospital (RNOH) and the Basel Bone Tu… (full text at CIViC)

PMID 27499898 · Presneau et al., 2015 · 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

A HEY1-NCOA2 fusion joining exon 4 of HEY1 to exon 13 of NCOA2 was identified in 10 mesenchymal chondrosarcomas but was absent from all other sarcoma types tested including other chondrosarcoma subtyp… (full text at CIViC)

PMID 22034177 · Wang et al., 2012 · Open in CIViC

Meningeal hemangiopericytoma (HPC) and mesenchymal chondrosarcoma (MC) are aggressive neoplasms with overlapping clinical presentations and morphology. Thirteen FFPE samples of MC (9 females, 4 males)… (full text at CIViC)

PMID 24124145 · Fritchie et al., 2013 · Open in CIViC