Lymphoid Neoplasm

This study performed exome sequencing on 55 DLBCL tumor samples and identified several significantly mutated genes including ACTB.

PMID 22343534 · Lohr et al., 2012 · Open in CIViC

The authors describe two cases of B-lymphoblastic leukemia (B-ALL) with the t(1;9)(p34;q34) rearrangement, resulting in a fusion between the pre-mRNA processing protein gene SFPQ and the ABL1 kinase g… (full text at CIViC)

PMID 21388681 · Duhoux et al., 2011 · Open in CIViC

A 34-year-old woman was hospitalized because of weakness and mild fever. Physical examination revealed multiple and superficial lymph nodes. Peripheral blood counting showed a 47% blasts. Bone marrow … (full text at CIViC)

PMID 27894117 · Sheng et al., 2017 · Open in CIViC

In frame AGGF1:PDGFRb (exons 1-10 and exons 11-23) containing the PDGFRb tyrosine kinase domain, with no additional mutations, was observed in a 4 year old patient with T-ALL, found by RNAseq and conf… (full text at CIViC)

PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC

A 4 yr old boy presented with a history of 1 week with fatigue, weakness, fever and vomiting. Physical examination showed prominent hepatosplenomegaly and white blood cell count of 622.8x109/L with … (full text at CIViC)

PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC

A 4 yr old boy was diagnosed with precursor B-cell ALL. Patient had normal karyotype. The patient was refractory to prolonged induction therapy. Presence of PDGFRB rearrangement was indicated by F… (full text at CIViC)

PMID 29434033 · Zhang et al., 2018 · Open in CIViC

A 4 yr old boy with AGGF1::PDGFRB Fusion, and Ph-Like B-ALL was refractory to chemotherapy and did not respond to induction therapy. The patient was given imatinib, and within 8 weeks leukemia clearan… (full text at CIViC)

PMID 29434033 · Zhang et al., 2018 · Open in CIViC

Ba/F3 cells with AGGF1:PDGFRb showed IL3 independent growth. Patient derived cells and Ba/F3, both with AGGF1:PDGFRb, were treated with erlotinib, gefitinib, ibrutinib, and vandetanib. IC50 for inhibi… (full text at CIViC)

PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC

Primary mononuclear cells from a 4 year old patient with AGGF1:PDGFRb were treated with PDGFRb inhibitors, which resulted in cell death. IC50 for reduction in cell viability were approximately Ponatin…

A 4 year old boy with normal karyotype relapsed, refractory B-cell ALL had initial but not sustained response to TKIs including imatinib, dasatinib and nilotinib, followed by a bone marrow transplant.… (full text at CIViC)

PMID 29434033 · Zhang et al., 2018 · Open in CIViC

In an in vitro study, a FL5.12 cell line expressing NPM1-ALK (a known sensitizing alteration to crizotinib) and an ALK F1174L co-mutation, demonstrated resistance to ceritinib treatment (IC50: 140.45 … (full text at CIViC)

PMID 27009859 · Amin et al., 2016 · Open in CIViC

In an in vitro study, a FL5.12 cell line expressing NPM1-ALK (a known sensitizing alteration to crizotinib) and an ALK G1269A co-mutation, demonstrated resistance to crizotinib treatment (IC50: 871.75… (full text at CIViC)

PMID 27009859 · Amin et al., 2016 · Open in CIViC

In an in vitro study, Karpas299CR cells expressing NPM-ALK fusion (a known sensitizing alteration to crizotinib) and an ALK I1171T co-mutation, demonstrated resistance to crizotinib treatment compared… (full text at CIViC)

PMID 24509625 · Zdzalik et al., 2014 · Open in CIViC

In an in vitro study, cell lines expressing NPM-ALK L1196Q, K299CR06 (endogenous expression) and Ba/F3 (overexpression), demonstrated resistance to crizotinib treatment (IC50: 948 nmol/L and 212 nmol/… (full text at CIViC)

PMID 23239810 · Ceccon et al., 2013 · Open in CIViC

In a patient with nasal type extranodal NK/T-cell lymphoma harboring ALK R214H mutation, ALK R214H was associated with response to crizotinib monotherapy. Prior to identification of the ALK R214H muta… (full text at CIViC)

PMID 27594191 · Thanarajasingam et al., 2016 · Open in CIViC

This study sequenced 73 DLBCL tumors (34 with matched constitutional DNA) and reported 322 genes they deemed recurrently mutated. Only genes that have been confirmed by other similar studies were adde… (full text at CIViC)

PMID 23292937 · Zhang et al., 2013 · Open in CIViC

Reported as significantly mutated in BL per the cited study. An arbitrarily selected variant from the study is included here.

PMID 30617194 · Grande et al., 2019 · 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 ATF7IP-JAK2 fusion is rare; in this study inv… (full text at CIViC)

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

This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC)

PMID 28985567 · Reddy et al., 2017 · Open in CIViC

Two ATM deficient mantle cell lymphoma (MCL) cell lines were more sensitive to PARP-1 inhibition with olaparib or PJ-34 than 4 other MCL cell lines. shRNA mediated ATM knockdown in a cell line increas… (full text at CIViC)

PMID 20124459 · Williamson et al., 2010 · Open in CIViC

Mantle cell lymphoma is characterized by inactivation of the ATM gene

PMID 10706620 · Schaffner et al., 2000 · 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

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

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… (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

This study identified BCL2 F104I mutation in one Follicular Lymphoma patient who developed resistance to venetoclax. Codon 104 is located at the venetoclax binding site of BCL2.

PMID 31234236 · Blombery et al., 2019 · Open in CIViC

Rs4;11 cells overexpressing BCL2 F104I exhibited >40-fold greater resistance to venetoclax after 24-hour treatment (IC50 not reached) than Rs4;11 overexpressing BCL2 WT cells as determined by cell tit… (full text at CIViC)

PMID 31234236 · Blombery et al., 2019 · Open in CIViC

In a multivariate analysis, BCL2 mutations and high FL international prognostic index were independent risk factors for transformation and death due to lymphoma. Some mutant Bcl-2 proteins exhibited e… (full text at CIViC)

PMID 25452615 · Correia et al., 2015 · Open in CIViC

In patients with Diffuse Large B-Cell Lymphoma, those with increased levels of BCL2 were shown to have decreased overall, disease-free, and relapse-free survival.

PMID 9207459 · Gascoyne et al., 1997 · Open in CIViC

In patients with Diffuse Large B-Cell Lymphoma, those with increased levels of BCL2 were shown to have decreased OS, DFS, and RFS.

PMID 9207459 · Gascoyne et al., 1997 · Open in CIViC

This translocation is a hallmark feature of follicular lymphoma. Although it is not present in every case, it is one of the most common genetic features of FL. FISH or IHC staining for BCL2 is part of… (full text at CIViC)

PMID 3537802 · Yunis et al., 1987 · Open in CIViC

The t(14;18) transloaction of BCL2 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

The combination of these genetic features are diagnostic for this newly defined entity as per the latest ICC and WHO guidelines

PMID 35653592 · Campo et al., 2022 · 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

This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC)

PMID 28985567 · Reddy et al., 2017 · Open in CIViC

Mutations in this gene have been described in several studies including the one referenced here.

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

In this 1999 study the authors included 1322 B-lymphoblastic leukemia (B-ALL) cases in patients under the age of 21 years. Cytogenetic data showed that 30 cases (2.3%) had the t(9;22)(q34;q11) known t… (full text at CIViC)

PMID 10194126 · Uckun et al., 1999 · Open in CIViC

In this 1991 study the authors included 363 children diagnosed with B-lymphoblastic leukemia (B-ALL). Cytogenetic analysis idenitified a t(9;22) (q34;q11) also known as BCR::ABL1 in 15 cases (4.1%). T… (full text at CIViC)

PMID 1991160 · Fletcher et al., 1991 · Open in CIViC

In a phase 2, open-label trial, 449 patients with either CML or Philadelphia chromosome-positive ALL or has a BCR-ABL T315I mutation were enrolled and administered once daily 45 mg ponatinib. In the 3… (full text at CIViC)

PMID 24180494 · Cortes et al., 2013 · Open in CIViC

70 yo with t(8;22)(p11;q11) and BCR::FGFR1 rearrangement presenting as pre-B ALL with complex cytogenetic abnormalities. Flow cytometric analysis at diagnosis showed B cell immunophenotype. BCR-FGFR1 … (full text at CIViC)

PMID 20594995 · Baldazzi et al., 2010 · Open in CIViC

In this study which included 1389 cases of high-risk pediatric B-ALL, 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on the 129… (full text at CIViC)

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