Connective and Soft Tissue Neoplasm

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

In this study, paraffin-embedded tissue microarray (TMA) evaluation of translocation t(17;22)(q22;q13) was performed on 40 tissue samples from 24 female and 16 male DFSP patients (37 primary tumors, 3… (full text at CIViC)

PMID 21111450 · Segura et al., 2011 · Open in CIViC

In this study, 57 cases of dermatofibrosarcoma protuberans (DFSP) were evaluated. The COL1A1-PDGFB fusion was detected in 42 (74%) out of the 57 sample after performing targeted PCR amplification and … (full text at CIViC)

PMID 17431412 · Takahira et al., 2007 · Open in CIViC

In this 2022 study by Peng et al., the authors performed whole-genome sequencing on 53 tumor-normal pairs from patients with Dermatofibrosarcoma Protuberans (DFSP) to define its comprehensive genomic … (full text at CIViC)

PMID 35441365 · Peng et al., 2022 · Open in CIViC

The is a cytogenetic case study of a 10-year-old female with pure pigmented dermatofibrosarcoma protuberans (DFSP), also called Bednar tumor, on her right shoulder. Karyotype of tumor cells was 47,XX … (full text at CIViC)

PMID 16843106 · Craver et al., 2006 · Open in CIViC

In this phase II, open-label, single-arm trial, 106 patients with 40 different malignancies were enrolled (78.5% solid tumors, 21.5% hematologic malignancies), including 12 with COL1A1-PDGFB fusion-po… (full text at CIViC)

PMID 18451237 · Heinrich et al., 2008 · Open in CIViC

In this non-controlled phase 2 clinical trial, 25 patients with primary or recurrent Dermatofibrosarcoma Protuberans (DFSP) were recruited. Only 21 had the t(17;22) COL1A-PDGFB fusion as detected thro… (full text at CIViC)

PMID 20439456 · Kérob et al., 2010 · Open in CIViC

Ten patients with Dermatofibrosarcoma Protuberans (DFSP) were enrolled in phase II study to investigate the response to imatinib in locally advanced or metastatic DFSP. Eight of the ten patients had l… (full text at CIViC)

PMID 15681532 · McArthur et al., 2005 · Open in CIViC

In this study, DFSP-transformed cell lines (4A and 5A) were used in-vitro and in-vivo to investigate the possibility of blocking the autocrine loop that forms as a result of the t(17;22) COL1A1-PDGFB … (full text at CIViC)

PMID 11291071 · Greco et al., 2001 · Open in CIViC

In this study, NIH3T3 cell lines were used to characterize the COLIA1/PDGFB fusion protein functionally and structurally in Dermatofibrosarcoma Protuberans (DFSP). The cell lines B5/5 (COLIA1/PDGFB tr… (full text at CIViC)

PMID 10446987 · Shimizu et al., 1999 · Open in CIViC

A 37-year-old man presented with dermatofibrosarcoma protuberans (DFSP). Post resection, multiple nodular metastases were found in both lungs and the disease progressed following treatments with cytot… (full text at CIViC)

PMID 29760553 · Xiao et al., 2018 · Open in CIViC

23 patients were enrolled in the phase 2 extension study. The chosen phase 2 dose of PLX3397 was 1000 mg per day. 12/23 patients with tenosynovial giant-cell tumors had a partial response and 7 patien… (full text at CIViC)

PMID 26222558 · Tap et al., 2015 · Open in CIViC

In the phase II trial (NCT02992743) of letetresgene autoleucel (lete-cel) in human leukocyte antigen ((HLA)-A*02:01–, HLA-A*02:05–, and/or HLA-A*02:06–positive), NY-ESO-1 (CTAG1B)-expressing advanced … (full text at CIViC)

PMID 39836945 · D'Angelo et al., 2025 · 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

In this retrospective circulating biomarker study, in two cohorts of osteosarcoma patients, the cytokine in blood samples was measured by Luminex assay. The cutoff values for cytokine was determined b… (full text at CIViC)

PMID 27529817 · Flores et al., 2017 · 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

Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified a somatic RNase IIIb DICER1 mutation in 8 of 9 cases (89… (full text at CIViC)

PMID 28862265 · Wu et al., 2018 · Open in CIViC

An analysis of DICER1 mutations in anaplastic sarcoma of the kidney identified RNase IIIb DICER1 mutations in 8 of 9 cases (89%). An in vitro cleavage assay of miR122 demonstrated that three of the DI… (full text at CIViC)

PMID 28862265 · Wu et al., 2018 · Open in CIViC

Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified at least 1 RNase IIIb DICER1 mutation in 8 of 9 cases (… (full text at CIViC)

PMID 28862265 · Wu et al., 2018 · 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

To determine if EML4::NTRK3 fusions were recurrent in tumors types known to harbor ETV6::NTRK3 fusions, the authors screened 63 cases with varying diagnoses (infantile fibrosarcoma, congenital mesobla… (full text at CIViC)

PMID 29099503 · Church et al., 2018 · Open in CIViC

This case study detailed a 9-month-old male with congenital fibrosarcoma with subsequent metastasis to the lungs. The patient had a history of hemimelia in the same limb as the congenital fibrosarcoma… (full text at CIViC)

PMID 27148571 · Tannenbaum-Dvir et al., 2015 · 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

Case study of a 2-year-old male with a slowly enlarging mass and gradual loss of function in right hand. First considered to be a vascular malformation. Tumor involved soft tissue spaces around a… (full text at CIViC)

PMID 34464935 · Chen et al., 2021 · 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