Childhood Connective and Soft Tissue Neoplasm

In this 2018 study, the authors aimed to identify driver events in 'double negative' clear cell sarcoma of the kidney (CCSK) where neither BCOR ITDs nor the YWHAE::NUTM2 gene fusion are detected. Elev… (full text at CIViC)

PMID 28833375 · Wong et al., 2018 · Open in CIViC

In this 2020 study, the authors report two patients with BCOR::CCNB3 fusion-positive clear cell sarcoma of the kidney (CCSK). Cases were males aged 10 and 14 years who presented with advanced disease.… (full text at CIViC)

PMID 31876361 · Han et al., 2020 · Open in CIViC

In this 2017 study, the authors describe two primary renal sarcomas harboring BCOR::CCNB3 gene fusions and compare the morphological and immunochemical features to typical clear cell sarcoma of the ki… (full text at CIViC)

PMID 28817404 · Argani et al., 2017 · 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 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

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

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

A mass found at birth in a patient’s left arm became enlarged at age 2 and was resected and characterized as a high-grade spindle cell sarcoma. FISH and RT-PCR did not detect any common sarcoma transl… (full text at CIViC)

PMID 30709876 · Bender et al., 2019 · 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

We describe a novel RBPMS-MET driver fusion in association with a locally aggressive IFS-like tumor. MET functions as an oncogene and, when associated with the RNA binding protein RBPMS, forms an in-f… (full text at CIViC)

PMID 33028644 · Gupta et al., 2020 · Open in CIViC

One patient with infantile fibrosarcoma and a NTRK1-SQSTM1 fusion was treated with larotrectinib and exhibited a partial response. Treatment was done within a multicentre, open-label, phase 1/2 study … (full text at CIViC)

PMID 29606586 · Laetsch et al., 2018 · Open in CIViC

In a pediatric phase 1 trial (NCT02637687), a 2 year old with infantile fibrosarcoma of the shoulder harbored the SQSTM1-NTRK1 fusion. After two surgical resections and multiple rounds of chemotherapy… (full text at CIViC)

PMID 30204247 · DuBois et al., 2018 · 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