Soft Tissue Neoplasm

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

In this study, 141 spindle cell sarcomas were evaluated for the presence of t(X;18) by RT-PCR. 85% of the synovial sarcomas were positive for this event. The study did not indicate the specific fusion… (full text at CIViC)

PMID 11144931 · O'Sullivan et al., 2000 · 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

This study used RT-PCR assays to screen tumor blocks for SS18::SSX1 fusion transcripts in 134 synovial sarcomas cases. 194 normal tissue and samples from unrelated tumor types were used as negative co… (full text at CIViC)

PMID 17334349 · Amary et al., 2007 · 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

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

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

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 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

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

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 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

In this 2020 study Kenny et al. included 68 cases of clear cell sarcoma of the kidney (CCSK). Using RT-PCR with RNA extracted from FFPE tumour tissue they detected a YWHAE::NUTM2 fusion transcript in… (full text at CIViC)

PMID 32364435 · Kenny et al., 2020 · Open in CIViC