Hematopoietic and Lymphatic System Neoplasm

Foundation panel results of baseline tumour samples from 48 patients with diffuse large B cell lymphoma identified PIM1 mutations in 6 patient samples, 5 of which were the DLBCL-ABC subtype. Four out … (full text at CIViC)

PMID 27904766 · Kuo et al., 2016 · Open in CIViC

Foundation panel results of baseline tumour samples from 48 patients with diffuse large B cell lymphoma identified PIM1 mutations in 6 patient samples, 5 of which were the DLBCL-ABC subtype. Four out … (full text at CIViC)

PMID 27904766 · Kuo et al., 2016 · Open in CIViC

This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes

PMID 29641966 · Schmitz et al., 2018 · Open in CIViC

The PLCG1 S345F mutation has been reported as a hotspot mutation in adult T-cell Leukemia/Lymphoma (ATL). This study performed in vitro characterization of the mutation by identifying an ATL cell line… (full text at CIViC)

PMID 36442790 · Prawiro et al., 2023 · Open in CIViC

The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC)

PMID 32232486 · Lucas et al., 2020 · Open in CIViC

Whole exome sequencing was performed on baseline and relapse samples from six patients with CLL. One relapse sample had mutations in BTK and PLCG2, and a second relapse sample only had a mutation in … (full text at CIViC)

PMID 24869598 · Woyach et al., 2014 · Open in CIViC

The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC)

PMID 32232486 · Lucas et al., 2020 · Open in CIViC

Mutations in the B2 domain of PML in the PML-RARa fusion have been shown to be associated with resistance to standard ATRA treatment in patients with acute promyelocytic leukemia.

PMID 23670176 · Tomita et al., 2013 · Open in CIViC

A novel seven amino acid deletion (p.K227_T233del) in the RARA region was detected in a refractory APL patient. The PML-RARA mutant was transduced into HL-60 cells and these in-vitro PML-RARA expressi… (full text at CIViC)

PMID 30289902 · Hattori et al., 2018 · Open in CIViC

The presence of the PML-RARa fusion protein is a diagnostic marker of Acute Promyelocytic Leukemia, or M3 AML.

PMID 7628753 · Diverio et al., 1995 · Open in CIViC

In this study, the authors explored the role of retinoic acid receptor alpha (RARα) gene rearrangements in acute promyelocytic leukemia (APL) and their connection to the t(15;17) chromosomal transloca… (full text at CIViC)

PMID 2170850 · de Thé et al., 1990 · Open in CIViC

ive point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these patients was amplified using polymerase chain… (full text at CIViC)

PMID 26537301 · Liu et al., 2016 · Open in CIViC

Five point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these 9 patients was cloned into flag-tagged pCag … (full text at CIViC)

PMID 26537301 · Liu et al., 2016 · Open in CIViC

The mutation A216V in the B2 domain of PML in the PML-RARa fusion was seen in a patient with ATRA-resistant acute promyelocytic leukemia.

PMID 21613260 · Goto et al., 2011 · Open in CIViC

The PML L218P mutation in the PML-RARa fusion was observed in a patient with previously ATRA-treated, relapsed acute promyelocytic leukemia refractory to arsenic trioxide.

PMID 21613260 · Goto et al., 2011 · Open in CIViC

Five point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these 9 patients was cloned into flag-tagged pCag … (full text at CIViC)

PMID 26537301 · Liu et al., 2016 · Open in CIViC

In previously untreated patients with chronic lymphocytic leukemia, POT1 mutations (N=13) were associated with shorter overall survival than wildtype POT1 (N=148) in univariate and multivariate analys… (full text at CIViC)

PMID 27226433 · Herling et al., 2016 · Open in CIViC

Through targeted sequencing of 22 genes and comparing matched follicular and diffuse large B-cell lymphoma transformation pairs, mutations in this gene were identified as more common in the matched DL… (full text at CIViC)

PMID 30802265 · González-Rincón et al., 2019 · Open in CIViC

The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations.

PMID 29713087 · Chapuy et al., 2018 · Open in CIViC

In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC)

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

In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease.The PPFIBP1-JAK2 fusion is rare; In this study inv… (full text at CIViC)

PMID 27870571 · Roberts et al., 2017 · Open in CIViC

Biopsies from 520 DLBCL patients treated with R-CHOP were evaluated for PRDM1 mutations or protein (BLIMP-1) expression. Patients with a homozygous deletion of PRDM1 (7%, N=19) had a significantly sho… (full text at CIViC)

PMID 27568520 · Xia et al., 2017 · Open in CIViC

In 177 patients with activated B-cell diffuse large B-cell lymphoma (ABC-DLBCL), PRDM1 mutations (N=46) were associated with worse overall (P=0.016) and progression-free (P=0.023) survival compared to… (full text at CIViC)

PMID 27568520 · Xia et al., 2017 · Open in CIViC

PRKCB was mutated in 33% of ATLL cases. 93% of these mutations were within the catalytic domain at Asp427. This gene has not been reported to be significantly mutated in any other cancers. Indeed thi… (full text at CIViC)

PMID 26437031 · Kataoka et al., 2015 · Open in CIViC

For aggressive adult T cell leukemia/lymphoma (ATL), PRKCB mutations were associated with an adverse outcome (Hard Ratio: 2.07; 95% CI: 1.29-3.31; P-value: 0.003). In this study, 414 ATL patients were… (full text at CIViC)

PMID 29084771 · Kataoka et al., 2018 · Open in CIViC

The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations.

PMID 29713087 · Chapuy et al., 2018 · Open in CIViC

This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes

PMID 29641966 · Schmitz et al., 2018 · 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 A190T 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 A190T to mercaptopurine (6-MP) as evidenced by significant reduction of th… (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 A190V was detected only at rel… (full text at CIViC)

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

Lentiviral-mediated overexpression of PRPS1 A190V 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 A87T 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

Lentiviral-mediated overexpression of PRPS1 C77S 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 D139G 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

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 D183E was detected only at rel… (full text at CIViC)

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

Lentiviral-mediated overexpression of PRPS1 D183E 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 D183H in Reh cells resulted in significant resistance against mercaptopurine (6-MP) and thioguanine (6-TG) as indicated by IC50 increases and reduced apoptosis co… (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 G174E was detected only at rel… (full text at CIViC)

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

Lentiviral-mediated overexpression of PRPS1 G174E 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