Connective and Soft Tissue Neoplasm

Pericytoma with t(7;12) is a soft tissue tumor characterized by fusion of the ACTB and GLI genes through the translocation t(7;12)(p22;q13). In this study the genomic breakpoints of 5 cases were chara… (full text at CIViC)

PMID 15555571 · Dahlén et al., 2004 · Open in CIViC

In this 2019 study, targeted RNA sequencing using the Archer FusionPlex technology was validated and implemented to detect oncogenic fusion transcripts in 62 genes recurrently rearranged in solid tumo… (full text at CIViC)

PMID 30459475 · Zhu et al., 2019 · Open in CIViC

In a patient with RANBP2::ALK-positive inflammatory myofibroblastic tumor, acquisition of the ALK F1174L mutation following crizotinib treatment was associated with acquired resistance. Ba/F3 studies … (full text at CIViC)

PMID 21030459 · Sasaki et al., 2010 · Open in CIViC

In a phase 3 trial (NCT03785964) involving 142 adults with progressing desmoid tumors, the gamma-secretase inhibitor nirogacestat demonstrated a significant progression-free survival benefit compared … (full text at CIViC)

PMID 36884323 · Gounder et al., 2023 · Open in CIViC

Alveolar soft part sarcoma (ASPS) is characterized by the presence of an unbalanced translocation der(17)t(X;17)(p11;q25). In this 2001 paper, FISH with YAC and cosmid probes was used to localize the… (full text at CIViC)

PMID 11244503 · Ladanyi et al., 2001 · Open in CIViC

In this 2012 paper, the authors assessed potential characteristic markers in 24 alveolar soft part sarcoma (ASPS cases), age range from 13 to 61 years, and 23 non-ASPS tumors. Nuclear immunoreactivity… (full text at CIViC)

PMID 21835426 · Tsuji et al., 2012 · Open in CIViC

90% out of 700 sarcoma samples (comprising 45 histologies) demonstrated loss or reduction of argininosuccinate synthetase 1 expression. Arginine auxotrophy confers sensitivity to arginine deprivation.… (full text at CIViC)

PMID 27735949 · Bean et al., 2016 · Open in CIViC

In primary soft tissue sarcoma cultures (UPS n = 25, SS n = 12), tumors with at least one mutation in apoptosis pathway genes (TP53, ATM, PIK3CB, PIK3R1, NTRK1 or CSF2RB; Mut+ n = 10, Mut− n = 27) wer… (full text at CIViC)

PMID 35406568 · Kirilin et al., 2022 · Open in CIViC

Loss of the chromatin-remodeling protein ATRX associates with ALT in cancers. Inhibition of the protein kinase ATR, a critical regulator of recombination recruited by RPA, disrupts ALT and triggers ch… (full text at CIViC)

PMID 25593184 · Flynn et al., 2015 · Open in CIViC

Jadun et al. reported an adolescent girl with a skull-base meningothelial meningioma, WHO grade 1. Initial germline testing of NF2, LZTR1, and SMARCB1 was negative. Subsequent paired tumor-normal geno… (full text at CIViC)

PMID 41442315 · Jadun et al., 2026 · Open in CIViC

This study consists of a cohort of 42 pediatric and adult patients with sarcomas that were classified as undifferentiated. Six of the forty two patients had BCOR::CCNB3 fusions detected by whole trans… (full text at CIViC)

PMID 25360585 · Peters et al., 2015 · Open in CIViC

Kao, et al. (2018) presented 36 BCOR::CCNB3 sarcoma cases (86% were males; mean and median age at presentation was 15 years (range from 2 to 44 years); 78% showed mainly primitive round cells morpholo… (full text at CIViC)

PMID 29300189 · Kao et al., 2018 · Open in CIViC

BCOR expression was evaluated in a cohort of 25 small blue round cell tumors (SBRCTs) with BCOR fusions (BCOR::MAML3, BCOR::CCNB3), BCOR exon 15 ITDs, or YWHAE-NUTM2B fusion (which is known to upregul… (full text at CIViC)

PMID 27428733 · Kao et al., 2016 · Open in CIViC

BCOR internal tandem duplications (ITDs) were found frequently in cases of clear cell sarcoma of kidney (CCSK), a rare pediatric renal cancer. The study initially evaluated 3 CCSK samples by whole exo… (full text at CIViC)

PMID 26573325 · Roy et al., 2015 · Open in CIViC

27 cases of CCSK were profiled by whole exome sequencing and whole transcriptomics, identifying BCOR ITDs in the majority (23/27, 85%). BCOR encodes a key constituent of a variant polycomb repressive… (full text at CIViC)

PMID 26573325 · Roy et al., 2015 · Open in CIViC

This phase II clinical trial of regorafenib (NCT01068769) examined the long term safety and efficacy of regorafenib monotherapy in patients with metastatic and/or unresectable gastrointestinal stromal… (full text at CIViC)

PMID 27371698 · Ben-Ami et al., 2016 · Open in CIViC

This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and efficacy in advanced gastrointestinal stromal tumor (GIST) patients refractory to at least imatinib a… (full text at CIViC)

PMID 22614970 · George et al., 2012 · Open in CIViC

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

In a case report, a clear cell sarcoma patient harboring BRAF V600E mutation with distant metastases was associated with a complete response to vemurafenib monotherapy at 8 weeks of treatment. Prior t… (full text at CIViC)

PMID 26286452 · Protsenko et al., 2015 · Open in CIViC

In a malignant peripheral nerve sheath tumor patient harboring a BRAF V600E mutation, response to vemurafenib monotherapy was reported. Upon identification of the BRAF V600E mutation, the patient was … (full text at CIViC)

PMID 24335681 · Kaplan, 2013 · Open in CIViC

In-vitro and in-vivo sensitivity to DR5 antibody conatumumab was correlated with expression of caspase-8.

PMID 26291055 · Kang et al., 2015 · Open in CIViC

Dufresne et al. identified a CCDC171::NTRK1 fusion by whole-exome RNA sequencing in one undifferentiated pleomorphic sarcoma from an ambispective cohort of NTRK-rearranged mesenchymal tumors. The fusi… (full text at CIViC)

PMID 37054503 · Dufresne et al., 2023 · Open in CIViC

In a phase 2 clinical trial, NCT01209598, 30 patients with CDK4-amplified and RB-expressing well differentiated and dedifferentiated liposarcomas (WDLS/DDLS) were treated with a selective CDK 4/6 inhi… (full text at CIViC)

PMID 23569312 · Dickson et al., 2013 · Open in CIViC

A total of 59 patients with well-differentiated or dedifferentiated liposarcomas were enrolled in a phase 2 study to evaluate palbociclib efficacy. Half of the patients had received prior treatment an… (full text at CIViC)

PMID 27124835 · Dickson et al., 2016 · Open in CIViC

A preclinical study to explore the efficacy of CDK4/6 inhibition with palbociclib, in a panel of sarcoma cell lines and sarcoma tumor xenografts (PDXs). The responsiveness of these cell lines correlat… (full text at CIViC)

PMID 26528855 · Perez et al., 2015 · Open in CIViC

Analysis of the antiproliferative effects of pharmacologic CDK4/6 inhibitors provided initial evidence of this notion, as lowest CDK4- expressing Rh28 cells showed the highest sensitivity to both LEE0… (full text at CIViC)

PMID 25810375 · Olanich et al., 2015 · Open in CIViC

In a phase 2 trial, patients with GIST bearing CDKN2A gene loss were treated with Palbociclib. 86.4% of patients had PD at 4 months.

PMID 30979737 · Toulmonde et al., 2019 · Open in CIViC

An imatinib-resistant cell line, DFSP105, was established from a dermatofibrosarcoma protuberans which had progressed to a high-grade fibrosarcomatous DFSP. The disease-associated COL1A1-PDGFB fusion … (full text at CIViC)

PMID 25852058 · Eilers et al., 2015 · Open in CIViC

A patient-derived xenograft (PDX) from a patient with cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) loss and FUS-ERG fusion positive Ewing's sarcoma was created. The PDX was treated in four cohort… (full text at CIViC)

PMID 27286459 · Murakami et al., 2016 · Open in CIViC

A preclinical study to explore the efficacy of CDK4/6 inhibition with palbociclib, in a panel of sarcoma cell lines and sarcoma tumor xenografts (PDXs). The responsiveness of these cell lines/PDX corr… (full text at CIViC)

PMID 26528855 · Perez et al., 2015 · Open in CIViC

A patient-derived xenograft (PDX) from a patient with cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) loss and FUS-ERG fusion positive Ewing's sarcoma was created. The PDX was treated in four cohort… (full text at CIViC)

PMID 27286459 · Murakami et al., 2016 · Open in CIViC

This study consists of a cohort of 115 patients with a class of sarcomas that had similar morphology to Ewing sarcoma. The presence of a CIC rearrangement was detected in all the cases by FISH. Previo… (full text at CIViC)

PMID 28346326 · Antonescu et al., 2017 · Open in CIViC

The authors recognize that differentiating between Ewing sarcoma and CIC::DUX4 fusion associated sarcoma can be challenging due to overlapping histological and immunohistochemical phenotypes. In this… (full text at CIViC)

PMID 35151033 · Song et al., 2022 · Open in CIViC

The cohort included 44 CIC-rearranged sarcomas (CIC-RS), comprising 18 central nervous system (CNS) and 26 extra-CNS tumors. RNA sequencing (n=27) identified CIC::DUX4 (n=15), CIC::NUTM1 (n=4), CIC::L… (full text at CIViC)

PMID 39985394 · Koo et al., 2025 · Open in CIViC

This study analyzed 27 formalin-fixed-paraffin-embedded samples of patients with known dermatofibrosarcoma protuberans (DFSP) using a newly designed multiplex RT-PCR assay. The assay identified COL1A1… (full text at CIViC)

PMID 17950782 · Patel et al., 2008 · Open in CIViC