Connective and Soft Tissue Neoplasm

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

In this study, SYT-SSX fusion transcripts (SS18-SSX1 and SS18-SSX2) were detected in 29 (64%) and 16 (36%) of the tumors, respectively. There was a significant relationship (P=0.003) between histologi… (full text at CIViC)

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

This study collected data on SYT-SSX fusion type, pathology, and clinical course in a retrospective multi-institutional study of 243 patients (age range, 6-82) with synovial sarcoma. SYT-SSX1 and SYT-… (full text at CIViC)

PMID 11782370 · Ladanyi et al., 2002 · 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

Case report of a pediatric patient with treatment-refactory inflammatory myofibroblastic tumor negative for ALK expression and rearrangement. Next generation sequencing of the patient revealed a TFG-R… (full text at CIViC)

PMID 24875859 · Lovly et al., 2014 · 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 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

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

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

This case study was on a 40-year-old male with dyspnea and a productive cough. He was found to have a right upper lobe opacity on a chest X-ray. Subsequent investigations, including CT and PET, showed… (full text at CIViC)

PMID 32868646 · Wong et al., 2020 · Open in CIViC

An intra-chromosomal TPR::NTRK1 fusion was found in a superficial soft tissue tumor located on the hand of a 7-year-old girl. The tumor had a prominently infiltrative growth pattern reminiscent of lip… (full text at CIViC)

PMID 27259011 · Agaram et al., 2016 · 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

Fluorescence in situ hybridization with a probe flanking the ALK gene at 2p23 and immunohistochemistry revealed ALK expression, suggesting ALK fusions in three cases of IMT.

PMID 10383129 · Griffin et al., 1999 · Open in CIViC

In this single-arm, open-label, phase 1/2 trial 137 patients who had advanced malignancies, including ALK-rearranged NSCLC and two patients with inflammatory myofibroblastic tumour (IMT) were enrolled… (full text at CIViC)

PMID 27836716 · Gettinger 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

Among pediatric fibroblastic and myofibroblastic proliferating superficial lesions, lipofibromatosis (LPF), composed of an admixture of adipose tissue and fibroblastic elements, has been variously cla… (full text at CIViC)

PMID 27259011 · Agaram 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

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

In this study, the authors investigated the diagnostic role of TFCP2 fusions in spindle cell/sclerosing rhabdomyosarcoma (SC/S-RMS), a rare and aggressive subtype of rhabdomyosarcoma. While SC/S-RMS e… (full text at CIViC)

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

This study investigated the role of TFCP2-related gene fusions in primary intraosseous rhabdomyosarcomas (PIOS), particularly within spindle cell and sclerosing rhabdomyosarcoma subtypes. The analysis… (full text at CIViC)

PMID 30720533 · Agaram et al., 2019 · Open in CIViC

In this study, the authors evaluated 60 Xp11 translocation neoplasms, including 8 perivascular epithelioid cell tumors (PEComas), to characterize the diagnostic significance of TFE3 fusion variants. U… (full text at CIViC)

PMID 26975036 · Argani et al., 2016 · Open in CIViC

In this study the authors examined six gynecologic tract perivascular epithelioid cell tumors (PEComas) that were previously diagnosed as PEComa but demonstrated unusual morphology suggestive of TFE3 … (full text at CIViC)

PMID 25517951 · Schoolmeester et al., 2015 · Open in CIViC

In this 2012 study O’Meara et al. included 51 clear cell sarcoma of kidney (CCSK). Using an index CCSK with the t(10;17)(q22;p13) identified by cytogenetics, they were able to map the breakpoints and … (full text at CIViC)

PMID 22294382 · O'Meara et al., 2012 · Open in CIViC