Hematopoietic and Lymphoid Cell Neoplasm

PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 K176N was detected only at rel… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Lentiviral-mediated overexpression of PRPS1 K176N in Reh cells resulted in significant resistance against mercaptopurine (6-MP) and thioguanine (6-TG) as indicated by IC50 increases and reduced apopto… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Lentiviral-mediated overexpression of PRPS1 K176N in Reh cells resulted no difference in response to Methotrexate, Cytarabine, Daunorubicin, or L-Asparginase compared to empty vector and wildtype PRPS… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 L191F was detected only at rel… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Lentiviral-mediated overexpression of PRPS1 L191F in Reh cells resulted in sensitivity to cytarabine (Ara-C) treatment as indicated by reduced cell viability and IC50 compared to empty vector and wild… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Lentiviral-mediated overexpression of PRPS1 M115T in Reh cells resulted in similar cytotoxic response (IC50 and apoptosis %) compared to controls (empty vector and wildtype PRPS1 overexpression) after… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Sequencing revealed relapse specific PRPS1 mutations in 24/358 (6.7%) relapsed childhood B-ALL cases derived from multiple cohorts. In the Chinese cohort, 18/138 (13%) cases harbored relapse specific … (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 N114D was detected only at rel… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Lentiviral-mediated overexpression of PRPS1 N114D in Reh cells resulted in significant resistance against mercaptopurine (6-MP) and thioguanine (6-TG) as indicated by IC50 increases and reduced apopto… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 N144S was detected only at rel… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Lentiviral-mediated overexpression of PRPS1 N144S in Reh cells resulted in sensitivity to cytarabine (Ara-C) treatment as indicated by reduced cell viability and IC50 compared to empty vector and wild… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 S103I was detected only at rel… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Lentiviral-mediated overexpression of PRPS1 S103I in Reh cells resulted in significant resistance against mercaptopurine (6-MP) and thioguanine (6-TG) as indicated by IC50 increases and reduced apopto… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 S103N was detected only at rel… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Lentiviral-mediated overexpression of PRPS1 S103N in Reh cells resulted in significant resistance against mercaptopurine (6-MP) and thioguanine (6-TG) as indicated by IC50 increases and reduced apopto… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 S103T was detected only at rel… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Treatment with the GART inhibitor, Lometrexol (de novo purine synthesis inhibitor), sensitized Reh cells overexpressing PRPS1 S103T to 6-MP as evidenced by significant reduction of the cell line's 6-M… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 T303S was detected only at rel… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Lentiviral-mediated overexpression of PRPS1 T303S in Reh cells resulted in significant resistance against mercaptopurine (6-MP) and thioguanine (6-TG) as indicated by IC50 increases and reduced apopto… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Lentiviral-mediated overexpression of PRPS1 V53A in Reh cells resulted in similar cytotoxic response to controls (empty vector and overexpression of known reduced-function PRPS1 mutants) after exposur… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Lentiviral-mediated overexpression of PRPS1 Y311C in Reh cells resulted in similar cytotoxic response to controls (empty vector and overexpression of known reduced-function PRPS1 mutants) after exposu… (full text at CIViC)

PMID 25962120 · Li et al., 2015 · Open in CIViC

Described in multiple studies of BL

PMID 30617194 · Grande et al., 2019 · 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

This study included 1389 cases of high-risk pediatric B-ALL, of which 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on Ph-like… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · Open in CIViC

B-ALL cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine Ph-like status. 2 of 2 patients (ages 2.7 and 12.… (full text at CIViC)

PMID 25207766 · Roberts et al., 2014 · Open in CIViC

The authors report a case of a 6-year-old child with leukemia and the clinical and morphologic characteristics of acute promyelocytic leukemia (APL), but without evidence of the expected t(15;17) or a… (full text at CIViC)

PMID 34432867 · Astolfi et al., 2021 · Open in CIViC

The authors report a TTMV-RARA (viral fusion) in a 39-year-old patient with leukemia and blasts that were APL-like with increased promyelocytes. The fusion was identified by targeted long read sequenc… (full text at CIViC)

PMID 35420676 · Sala-Torra et al., 2022 · Open in CIViC

This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC)

PMID 28985567 · Reddy et al., 2017 · 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

AML (megakaryoblastic) with t(1;22)(p13.3;q13.3);RBM15-MKL, is a defined subgroup of AML in the WHO 2016 classification of myeloid neoplasms and acute leukemias. In this manuscript by O'Brien et al, o… (full text at CIViC)

PMID 22918081 · O'Brien et al., 2013 · Open in CIViC

Authors studied five patients with B-ALL and potential RCSD1-ABL1 fusion. Patients’ age ranged from 11 to 40 years. Patient 1 was previously reported in PMID 17541395. Sequencing showed that the first… (full text at CIViC)

PMID 23168614 · De Braekeleer et al., 2013 · Open in CIViC

This study included 1389 cases of high-risk pediatric B-ALL, of which 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on Ph-like… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · Open in CIViC