Childhood Malignant 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

Across a multicenter cohort of CNS embryonal tumors (n = 9), recurrent BRD4::LEUTX fusions were identified by RNA sequencing, with all cases retaining LEUTX exon 2 and variable BRD4 breakpoints (exons… (full text at CIViC)

PMID 38500181 · Andreiuolo et al., 2024 · Open in CIViC

Predominantly high-level expression of BRD4 was found in the majority of medulloblastoma cell lines examined (HD-MB3, ONS-76, UW-228, D-341, and D-283); the exception being the Daoy cell line exhibiti… (full text at CIViC)

PMID 24231268 · Henssen et al., 2013 · Open in CIViC

Acute megakaryoblastic leukemia (AMKL) is a rare subtype of AML. CBFA2T3/GLIS2 and NUP98/KDM5A are recurrent aberrations, occurring in similar frequencies as RBM15/MKL1 and KMT2A-rearrangements. In th… (full text at CIViC)

PMID 27114462 · de Rooij et al., 2016 · Open in CIViC

Three patients displayed variable developmental conditions with predisposition to JMML. All cases included a copy neutral loss of heterozygosity of the 11q23 chromosomal region, encompassing the CBL l… (full text at CIViC)

PMID 20543203 · Pérez et al., 2010 · Open in CIViC

This is a report about CIC-LEUTX gene fusion (CIC exon 20 to LEUTX exon 3 ) in a CNS embryonal tumor from a 2-year-old male, and the report also reviewed the clinical and pathological features of 3 ot… (full text at CIViC)

PMID 33344249 · Hu et al., 2020 · Open in CIViC

A total of 51 medulloblastomas from two independent cohorts (19 and 32 cases) were assessed for evidence of Wnt/Wg pathway activation, alongside a genome-wide analysis of associated copy-number aberra… (full text at CIViC)

PMID 17172831 · Clifford et al., 2006 · Open in CIViC

This retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cat… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

Sanger sequencing of several pleuropulmonary blastoma tumor lines showed possible somatic missense mutation, D1810Y, in DicerI. All mutations thought to be somatic were found in the RNase IIIb domain.… (full text at CIViC)

PMID 24675358 · Seki et al., 2014 · Open in CIViC

These two mutations were identified in the tumor tissue in an NGS based panel and were not seen in the adjacent normal lung tissue. This confirms it as a rare case of somatically acquired Biallelic mu… (full text at CIViC)

PMID 24909177 · Pugh et al., 2014 · Open in CIViC

In an analysis of 22 cases of mesoblastic nephroma, 4 of 5 (80%) cellular mesoblastic nephromas harbored ETV6::NTRK3, 1 of 5 cellular mesoblastic nephromas harbored a KLHL7::BRAF fusion, 12 of 12 (100… (full text at CIViC)

PMID 32590884 · Zhao et al., 2020 · 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

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

PMID 29099503 · Church et al., 2018 · 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

EML6::NTRK3 fusion is seen in cases of Infantile fibrosarcoma and congenital mesoblastic nephroma. In general, these types of tumors more commonly harbor ETV6::NTRK3 fusions.

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

A frequent genetic alteration in congenital mesoblastic nephroma is the translocation t(12;15) resulting in a fusion of the ETV6 gene on 12p13 and the NTRK3 gene on 15p15 that occurs almost exclusivel… (full text at CIViC)

PMID 29286563 · Vokuhl et al., 2018 · Open in CIViC

Children with Down syndrome are at increased risk to developing Transient Abnormal Myelopoiesis (TAM) and Myeloid Leukemia associated with Down Syndrome (ML-DS). GATA1, a gene that encodes an essentia… (full text at CIViC)

PMID 27069254 · Arber et al., 2016 · Open in CIViC

This is a large international retrospective study of the association between fusion partner and outcome in 756 children with KMT2A-rearranged (also known as MLL-rearranged) AML from 11 study group inc… (full text at CIViC)

PMID 19528532 · Balgobind et al., 2009 · 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

Within a cohort of 71 pediatric B-ALL relapse cases, all 7 patients with NT5C2 mutations detected at relapse demonstrated early relapse (<36 months from initial diagnosis) with a median time to relaps… (full text at CIViC)

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samples sequenced for NT5C2 mutations. Sequencing revealed 3 early relapse cases with NT5C2 R238W enrich… (full text at CIViC)

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

Overexpression of NT5C2 R238W in Reh cells resulted in no change in response to cytarabine, gemcitabine, doxorubicin or prednisolone versus wildtype or GFP controls as indicated by similar apoptosis.

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

Lentiviral mediated overexpression of NT5C2 R367Q in Reh cells resulted in no change in apoptosis after exposure to cytarabine, gemcitabine, doxorubicin, or prednisolone compared to wildtype NT5C2 ove… (full text at CIViC)

PMID 23377183 · Meyer et al., 2013 · Open in CIViC