Mesenchymal Cell Neoplasm

A 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

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

EML6::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

The ERCC2 K751Q variant was significantly correlated with a lower response to cisplatin chemotherapy in osteosarcoma patients and shorter event-free survival. 91 osteosarcoma patients with a median ag… (full text at CIViC)

PMID 19434073 · Caronia et al., 2009 · Open in CIViC

This 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

In 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

In 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

In 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

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. EWSR1-DDIT3 (EWS-CHOP) was foun… (full text at CIViC)

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

Identified two cases of myxoid liposarcoma with translocations (between 12q13 and 22q12) giving rise to EWSR1-DDIT3 (EWS-CHOP) fusions instead of the more common FUS-DDIT3.

PMID 8637704 · Panagopoulos et al., 1996 · Open in CIViC

In this single-arm, open-label phase 2 trial, extraskeletal myxoid chondrosarcoma patients treated with pazopanib were reported and 22/23 patients (one patient died before the primary analysis) were e… (full text at CIViC)

PMID 31331701 · Stacchiotti et al., 2019 · Open in CIViC

his report confirms the therapeutic activity of sunitinib in extraskeletal myxoid chondrosarcoma. Genotype/phenotype analyses support a correlation between response and EWSR1-NR4A3 fusion.

PMID 24703573 · Stacchiotti et al., 2014 · Open in CIViC

In a sub-analysis of a randomized phase II trial in extraskeletal myxoid chondrosarcoma (EWSR1-NR4A3 and TAF15-NR4A3 fusions; n = 2) and mesenchymal chondrosarcoma (HEY1-NCOA2 fusion, n = 6)(trabected… (full text at CIViC)

PMID 27418251 · Morioka et al., 2016 · Open in CIViC

This study presented clinicopathological and molecular findings of TFCP2-rearranged rhabdomyosarcomas with epithelioid and/or spindle cell morphology. The cohort comprised 14 cases, including 3 index … (full text at CIViC)

PMID 31383960 · Le Loarer et al., 2020 · Open in CIViC

This study reported clinicopathologic and molecular features of 25 cases of fusion-driven spindle cell/sclerosing rhabdomyosarcoma (SCSRMS). The tumors occurred in bone (n=19) and soft tissue (n=6). T… (full text at CIViC)

PMID 37422156 · Dehner et al., 2023 · 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

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

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

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

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

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