Intermediate 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

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

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

The authors studied 27 archival formalin-fixed, paraffin-embedded (FFPE) samples of dermatofibrosarcoma protuberans (DFSP) cases obtained from Texas Children's Hospital and University of Texas MD Ande… (full text at CIViC)

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

This study illustrates the prevalence of CTNNB1 mutations in sporadic desmoid tumors, and examines whether the presence of CTNNB1 mutations correlates with the disease outcome. CTNNB1 mutations (inclu… (full text at CIViC)

PMID 23960186 · Mullen et al., 2013 · Open in CIViC

An analysis of 260 typical desmoid tumors and 191 cases of spindle cell lesions (which can be difficult to distinguish morphologically from desmoid tumors) identified CTNNB1 mutations in 88% of desmoi… (full text at CIViC)

PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC

Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutat… (full text at CIViC)

PMID 18832571 · Lazar et al., 2008 · Open in CIViC

In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in CTNNB1. A mutation in exon 3 of the CTNNB1 gene was identified in 223 (88%) of the 254 cases. The C… (full text at CIViC)

PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC

Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutat… (full text at CIViC)

PMID 18832571 · Lazar et al., 2008 · Open in CIViC

In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in CTNNB1. A mutation in exon 3 of the CTNNB1 gene was identified in 223 (88%) of the 254 cases. The C… (full text at CIViC)

PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC

Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutat… (full text at CIViC)

PMID 18832571 · Lazar et al., 2008 · Open in CIViC

In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in CTNNB1. A mutation in exon 3 of the CTNNB1 gene was identified in 223 (88%) of the 254 cases. The C… (full text at CIViC)

PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC

A patient with a recurrent, metastatic uterine myxoid neoplasm and a DCTN1-ALK fusion experienced both clinical and radiographic improvement with crizotinib and pazopanib. The patient was initially di… (full text at CIViC)

PMID 26062823 · Subbiah 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 inflammat… (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

This study, involving 20 pediatric patients, looked at molecular alterations in Lipofibromatosis. RNA sequencing detected EGFR::BRAF fusion in Patient 19 (6-year-old male). The fusion was picked up by… (full text at CIViC)

PMID 30310176 · Al-Ibraheemi et al., 2019 · Open in CIViC

In a cohort of 20 patients with dermatofibrosarcoma protuberans that were previously negative for COL1A1::PDGFB fusion with fluorescence in situ hybridization, RNA-sequencing was applied. novel and re… (full text at CIViC)

PMID 29955147 · Dadone-Montaudié et al., 2018 · Open in CIViC

In this study, the authors analyzed 14 cases of angiomatoid fibrous histiocytoma (AFH). The EWSR1::CREB1 fusion associated with t(2;22)(q33;q12) was detected in 13 of 14 tumors by dual‑color and four‑… (full text at CIViC)

PMID 18094413 · Rossi et al., 2007 · Open in CIViC

In this study, the authors analyzed 9 cases of angiomatoid fibrous histiocytoma (AFH). The EWSR1::CREB1 fusion was identified as the predominant molecular alteration, detected in 8 of 9 tumors by RT‑P… (full text at CIViC)

PMID 17724745 · Antonescu et al., 2007 · 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

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

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

This study identified a recurrent MALAT1::GLI1 fusion in 4 of 4 (100%) gastroblastomas from patients ranging in age from 9 to 56 years old. Initially, the fusion was identified using transcriptome seq… (full text at CIViC)

PMID 37165307 · Hamada et al., 2023 · Open in CIViC

In this 2017 study the authors included four cases of gastroblastoma with control cases of histologic mimics. Gastroblastoma patients were aged 9, 27, 28 and 56 years. RNASeq identified a MALAT1::GLI1… (full text at CIViC)

PMID 28731043 · Graham et al., 2017 · Open in CIViC