Childhood Malignant Neoplasm

71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samples sequenced for NT5C2 mutations. Sequencing revealed an early relapse case with NT5C2 R367Q enrich… (full text at CIViC)

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

Lentiviral-mediated overexpression of NT5C2 R367Q in Reh cells resulted in significant resistance against thiopurines (mercaptopurine and thioguanine) versus wildtype and GFP controls, as indicated by… (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 an early relapse case with NT5C2 S445F enrich… (full text at CIViC)

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

Overexpression of NT5C2 S445F 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

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

Patients from three (Guatemala, Singapore and Japan) separate cohorts harboring NUDT15 loss of function mutations displayed intolerance to Thiopurine treatment (p=0.021, 2.1e-5, & 0.0054). Patients wi… (full text at CIViC)

PMID 26878724 · Moriyama et al., 2016 · Open in CIViC

We identified missense mutations in PTPN11 in 21 of 62 individuals with JMML but without Noonan syndrome (34%; 95% confidence interval (c.i.) = 22–47%), with nine different molecular defects in exon 3… (full text at CIViC)

PMID 12717436 · Tartaglia et al., 2003 · Open in CIViC

AML (megakaryoblastic) with t(1;22)(p13.3;q13.3);RBM15-MKL1, is a defined diagnostic subgroup in the 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukem… (full text at CIViC)

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

In this study, the authors investigated the association of the RBM15::MRTFA fusion with acute megakaryoblastic leukemia (AMKL, FAB-M7), particularly in non-Down syndrome infants and young children. A… (full text at CIViC)

PMID 11431691 · Ma et al., 2001 · 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

Five of the 11 somatic mutations were non–RAS pathway mutations, involving SETBP1 (3 p.Asp868Asn alterations), JAK3 (1 p.Arg657Gln alteration) and SH3BP1 (1 p.Ser277Leu alteration), which had not been… (full text at CIViC)

PMID 23832011 · Sakaguchi et al., 2013 · 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