Sarcoma

Case report of a 27-year old female patient with spindle cell sarcoma. Initial treatment consisted of eight cycles of alternating vincristine-doxorubicin-cyclophosphamide and ifosfamide-etoposide plus… (full text at CIViC)

PMID 35050712 · Panet et al., 2022 · Open in CIViC

Western blot analyses were performed for HR23b (RAD23B) expression sarcoma cell lines after treatment with vorinostat, belinostat, mocetinostat and entinostat. All HDACi were able to regulate prolifer… (full text at CIViC)

PMID 27499916 · Angelika Ihle et al., 2016 · Open in CIViC

Using next-generation DNA and RNA sequencing, three cases harboring NTRK fusions were identified in a cohort of 113 osteosarcomas, including primary tumors and metastases. All three cases exhibited hi… (full text at CIViC)

PMID 32022484 · Ameline et al., 2020 · Open in CIViC

The study investigated the sensitivity of RB1-mutant osteosarcoma cell lines to PARPi. It found that cell viability, measured by AUC values after 5 days, was significantly lower in RB1-defective cell … (full text at CIViC)

PMID 34862364 · Zoumpoulidou et al., 2021 · Open in CIViC

We 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

SLFN11 is an ETS transcription factor response gene and a predictive marker for therapeutic response to topoisomerase I inhibitors and temozolomide-PARP inhibitor combinations in ETS-activated cancers… (full text at CIViC)

PMID 25779942 · Tang et al., 2015 · Open in CIViC

In this phase II, multicenter study of tazemetostat (EZH2 inhibitor) in adults with INI1-negative tumors or relapsed/refractory synovial sarcoma, subjects were enrolled into one of 7 cohorts. Cohort #… (full text at CIViC)

PMID 33035459 · Gounder et al., 2020 · Open in CIViC

This study aimed to characterize the spectrum of SMARCB1 gene abnormalities in epithelioid sarcoma. 19/21 patients were SMARCB1 immunohistochemistry-negative. Multiplex ligation dependent probe amplif… (full text at CIViC)

PMID 23060122 · Sullivan et al., 2013 · Open in CIViC

In the dose expansion of phase I pediatric trial (NCT02601937) of the EZH2 inhibitor tazemetostat, the overall response in 9 patients with SMARCB1-deficient epithelioid sarcoma was 22%, with 1 complet… (full text at CIViC)

Open in CIViC

Treatment with tazemetostat , a small-molecule inhibitor of EZH2, results in concentration-dependent cell growth inhibition and cell death specifically in SS18-SSX-positive, SMARCB1-deficient synovial… (full text at CIViC)

PMID 27391784 · Kawano et al., 2016 · Open in CIViC

One 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

In 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

A t(X;18) translocation resulting in the fusion SYT-SSX (SS18-SSX1 or SS18-SSX2) is detected cytogenetically in over 90% of synovial sarcomas, regardless of histologic subtype. The prevalence of this … (full text at CIViC)

PMID 11607825 · Ladanyi, 2001 · Open in CIViC

In this review, the author summarize the role of this fusion in diagnosis of synovial sarcomas. Cytogenetic studies have repeatedly demonstrated the t(X;18)(p11;q11) translocation in approximately 90%… (full text at CIViC)

PMID 11122430 · Pfeifer et al., 2000 · Open in CIViC

A t(X;18) is detected cytogenetically in over 90% of synovial sarcomas, regardless of histologic subtype. This translocation results primarily in two fusions. SYT-SSX1 (aka SS18-SSX1) and SYT-SSX2 (ak… (full text at CIViC)

PMID 11607825 · Ladanyi, 2001 · Open in CIViC

A characteristic SYT-SSX fusion gene resulting from the chromosomal translocation t(X;18)(p11;q11) is detectable in almost all synovial sarcomas. SYT (aka SS18) pairs with various 3' partners know as … (full text at CIViC)

PMID 9428816 · Kawai et al., 1998 · Open in CIViC

Three synovial sarcomas were assayed for SYT-SSX fusion messenger RNA by nested RT-PCR. In a single case an SYT-SSX4 (SS18-SSX4) fusion was detected. The majority of synovial sarcomas are characterize… (full text at CIViC)

PMID 10359553 · Skytting et al., 1999 · Open in CIViC

In a study of 96 Ewing sarcoma tumors, 15% showed heterogenous loss of STAG2 expression in IHC analysis. Of those with STAG2 expression loss, 88% presented with metastatic disease compared to only 27… (full text at CIViC)

PMID 25186949 · Crompton et al., 2014 · Open in CIViC

One Patient with soft tissue sarcoma and a STRN-NTRK2 fusion had a partial Response with larotrectinib. Treatment was done within a multicentre, open-label, phase 1/2 study and enrolled infants, child… (full text at CIViC)

PMID 29606586 · Laetsch et al., 2018 · Open in CIViC

This study evaluated 641 cases of rhabdomyosarcoma (RMS) that were enrolled in the Children’s Oncology Group (COG) trials from 1998 to 2017 and the UK malignant mesenchymal tumor and RMS2005 trails fr… (full text at CIViC)

PMID 34166060 · Shern et al., 2021 · Open in CIViC

19 advanced sarcoma patients treated with pazopanib were retrospectively assessed for mutations associated with response using the Foundation one sarcoma/heme panel. Progression-free survival (PFS) of… (full text at CIViC)

PMID 26646755 · Koehler et al., 2016 · Open in CIViC

In the phase I study of pazopanib and vorinostat in 36 patients with advanced solid tumors, detection of hotspot TP53 mutation was associated with a higher rate of SD ≥6 months/PR, longer median PFS (… (full text at CIViC)

PMID 25669829 · Fu et al., 2015 · Open in CIViC

Several preclinical studies were testing drug resistance mechanisms of TP53-R273H variant. Saos-2 cells were transfected with TP53-R273H mutation and these cells were used in the study. Using a wester… (full text at CIViC)

PMID 17363498 · Wong et al., 2007 · Open in CIViC

Intron 1 rearrangements of TP53 were identified in 46 of 288 osteosarcoma cases (16%). No fusions were detected in 1090 other tumors screened. Fusions were associated with loss of TP53 expression.

PMID 25762628 · Ribi et al., 2015 · Open in CIViC

TP53 fusions were identified in 10 of 25 osteosarcoma cases. The resulting inactivation of p53 was demonstrated by a deficiency of the radiation-induced DNA damage response.

PMID 26672768 · Lorenz et al., 2016 · Open in CIViC

Four patients with infantile fibrosarcoma and soft tissue sarcoma and a TPM3::NTRK1 fusion were treated with larotrectinib. All four patients had a partial or complete response in the target lesion. T… (full text at CIViC)

PMID 29606586 · Laetsch et al., 2018 · Open in CIViC

In a pediatric phase 1 trial (NCT02637687), a 12-year-old boy with TPM3-NTRK1 fusion was treated with Larotrectinib as first line treatment as no standard treatment options were available. Following a… (full text at CIViC)

PMID 30204247 · DuBois et al., 2018 · Open in CIViC

TYK2 protein overexpression was observed in 60% of MPNST cases using an independently generated tissue microarray, regardless of NF1 status. A total of 3 women and 4 men with NF1-MPNST were studied (m… (full text at CIViC)

PMID 27875628 · Hirbe et al., 2017 · Open in CIViC

Using next-generation DNA and RNA sequencing, three cases harboring NTRK fusions were identified in a cohort of 113 osteosarcomas (including both primary tumors and metastases). Each of the three case… (full text at CIViC)

PMID 32022484 · Ameline et al., 2020 · Open in CIViC

Patient was 34-year-old woman with vaginal sarcoma, which was excised with positive surgical margins. Fluorescence in situ hybridization testing of her tumor revealed anaplastic lymphoma kinase gene … (full text at CIViC)

PMID 26942346 · Forde et al., 2016 · Open in CIViC

In this 2017 study, the authors analyzed molecular features of 26 pediatric spindle cell and sclerosing rhabdomyosarcoma (SRMS) cases. The cohort included 11 congenital/infantile patients (age 0–1 yea… (full text at CIViC)

PMID 26501226 · Alaggio et al., 2016 · Open in CIViC

In this 2015 study, the authors analyzed 26 pediatric spindle cell and sclerosing rhabdomyosarcoma (SRMS) cases, including 11 congenital/infantile cases, using a combination of RNA sequencing, FISH, t… (full text at CIViC)

PMID 26501226 · Alaggio et al., 2016 · Open in CIViC

In this 2025 retrospective study, 14 spindle cell rhabdomyosarcoma (SCRMS) cases previously identified as possessing ZFP64::NCOA2 or ZFP64::NCOA3 fusions were pulled from clinical archives to assess c… (full text at CIViC)

PMID 41075874 · Dehner et al., 2025 · Open in CIViC

In this 2016 study, the authors analyzed 26 pediatric spindle and sclerosing rhabdomyosarcomas (SRMS) using FISH, targeted DNA, and whole transcriptome sequencing to define their molecular landscape. … (full text at CIViC)

PMID 26501226 · Alaggio et al., 2016 · Open in CIViC

In a Phase 1/2 study involving 15 pediatric patients with infantile fibrosarcoma or soft tissue sarcoma, 8 patients had NTRK1 fusions. The patients were administered Larotrectinib, and 7 out of 8 pati… (full text at CIViC)

PMID 29606586 · Laetsch et al., 2018 · Open in CIViC

LOXO-101 is an orally administered inhibitor of the TRK kinase and is highly selective only for the TRK family of receptors. The tumor of a 41-year-old woman with soft-tissue sarcoma metastatic to the… (full text at CIViC)

PMID 26216294 · Doebele et al., 2015 · Open in CIViC

Using next-generation DNA and RNA sequencing, three cases harboring NTRK fusions were identified in a cohort of 113 osteosarcomas (including primary tumors and metastases). Each of the three cases had… (full text at CIViC)

PMID 32022484 · Ameline et al., 2020 · Open in CIViC