Lymphoma

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

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

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

Described in multiple studies of BL

PMID 30617194 · Grande et al., 2019 · 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

Amplification of REL is shown to be associated with germinal-center B-cell–like diffuse large-B-cell lymphomas.

PMID 12075054 · Rosenwald et al., 2002 · Open in CIViC

Described in multiple genome-wide studies of BL

PMID 30617194 · Grande et al., 2019 · Open in CIViC

One of the first genes found to be affected by aberrant somatic hypermutation in DLBCL

PMID 11460166 · Pasqualucci et al., 2001 · Open in CIViC

Described in multiple genome-wide studies of BL

PMID 30617194 · Grande et al., 2019 · Open in CIViC

Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including S1PR1.

PMID 32160292 · Pararajalingam et al., 2020 · 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

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

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · 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

Described in multiple genome-wide studies of BL

PMID 30617194 · Grande et al., 2019 · 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

Described in multiple genome-wide studies

PMID 30617194 · Grande et al., 2019 · Open in CIViC

The authors found that approximately 25% of diffuse large B-cell lymphoma and follicular lymphomas had SOCS1 mutations and they concluded these were likely caused by aberrant somatic hypermutation

PMID 19734449 · Mottok et al., 2009 · Open in CIViC

Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including SP140.

PMID 32160292 · Pararajalingam et al., 2020 · 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

The authors sequenced exons 19–24 of STAT3 (the region where the hot spot has been reported in other malignancies) in 48 diffuse large B-cell lymphoma samples.

PMID 24837465 · Ohgami et al., 2014 · Open in CIViC

Mutations in the Src homology 2 (SH2) domain (exon 21) of STAT3 were found in 31 of 77 patients (40%) with large granular lymphocytic leukemia. Recurrent mutational hot spots included Y640F, D661V, D6… (full text at CIViC)

PMID 22591296 · Koskela et al., 2012 · Open in CIViC

The authors analyzed exome data from 38 relapsed DLBCLs and 138 diagnostic DLBCLs and identified genes enriched for mutations in the former relative to the latter.

PMID 26647218 · Morin et al., 2016 · Open in CIViC

The authors applied exome sequencing to14 relapsed/refractory (R/R) DLBCL patients and implicated these genes

PMID 26608593 · Mareschal et al., 2016 · Open in CIViC

First described in Schmitz but has been observed in multiple other BL studies

PMID 22885699 · Schmitz et al., 2012 · 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

Mutations in this gene have been described in several genome-wide studies

PMID 30617194 · Grande et al., 2019 · Open in CIViC

The authors analyzed 96 diffuse large B-cell lymphomas and identified several recurrently mutated genes

PMID 28327945 · Albuquerque et al., 2017 · Open in CIViC

Focusing on ABC DLBCL, the authors showed that >50% of cases have somatic mutations in regulators of NF-KB with TNFAIP3 among the most common.

PMID 19412164 · Compagno et al., 2009 · Open in CIViC

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

Low coverage WGS and WES was performed on 752 multiple myleoma patients. Structural variants (copy number gains, templated insertions, and or translocations) of TNFRS17 were found in 19 (2.5%) patient… (full text at CIViC)

PMID 33392515 · Rustad et al., 2020 · 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

Described in many studies

PMID 30617194 · Grande et al., 2019 · Open in CIViC

This study confirmed clinical associations between TP53 and NOTCH1 with poor outcome.

PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si…

In mouse models, the R248Q variant had accelerated onset of all tumor types and accelerated death rate. Endogenous R248Q proteins are devoid of several important wildtype tp53 tumor-suppressor functio… (full text at CIViC)

PMID 23538418 · Hanel et al., 2013 · Open in CIViC

A 73 y.o. male with Waldenström's Macroglobulinemia, a rare type of non-Hodgkin's lymphoma, donated bone marrow upon cancer recurrence to establish the cell line MWCL1. The bone marrow was initially … (full text at CIViC)

PMID 21415268 · Hodge et al., 2011 · 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

Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including UBR5. This gene has also been reported… (full text at CIViC)

PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC

Described in multiple genome-wide studies of BL

PMID 30617194 · Grande et al., 2019 · Open in CIViC

In a phase I study of the efficacy of ceritinib in ALK fusion positive cancer, a single patient with anaplastic large cell lymphoma was treated with 750mg daily ceritinb and had a partial response. Du… (full text at CIViC)

PMID 24670165 · Shaw et al., 2014 · Open in CIViC