B-Cell Malignant Neoplasm

This study is a follow-up report after the original publication (PMID 30514704). D103E mutation was identified in combination with other BCL2 mutations including G101V in 4 CLL patients with venetocla… (full text at CIViC)

PMID 31951646 · Blombery et al., 2020 · Open in CIViC

The authors demonstrated that BCL2 Asp103Glu imparts resistance to venetoclax in vitro by investigating the in vitro binding profile of the Asp103Glu to both venetoclax and proapoptotic proteins in co… (full text at CIViC)

PMID 31951646 · Blombery et al., 2020 · Open in CIViC

This study is a follow-up report after the original publication (PMID 30514704). D103V mutation was identified in combination with other BCL2 mutations including G101V in 2 CLL patients with venetocla… (full text at CIViC)

PMID 31951646 · Blombery et al., 2020 · Open in CIViC

This study is a follow-up report after the original publication (PMID 30514704). D103Y mutation was identified in combination with other BCL2 mutations including G101V in 5 CLL patients with venetocla… (full text at CIViC)

PMID 31951646 · Blombery et al., 2020 · Open in CIViC

This study identified D103Y in one CLL patient with resistance to venetoclax. D103Y was presented in this patient after 39 months of venetoclax treatment in peripheral blood with a VAF of 7% which inc… (full text at CIViC)

PMID 31004028 · Tausch et al., 2019 · 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

Associated with venetoclax resistance in 2 high-risk CLL patients post ibrutinib in "progressive CLL"

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

Associated with venetoclax resistance in high-risk CLL post ibrutinib in "progressive CLL"

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

Associated with venetoclax resistance in high-risk CLL post ibrutinib in "progressive CLL"

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

This study identified G101V mutation in BCL2 emerged in 7 out of 15 patients with CLL progression treated with Venetoclax. In addition, this study demonstrated that the G101V mutation impairs binding … (full text at CIViC)

PMID 30514704 · Blombery et al., 2019 · Open in CIViC

Four of six heavily pretreated, high-risk CLL patients with a 17p deletion from the phase 2 trial M13-9824 with continuous venetoclax treatment, who were treated with venetoclax for a period longer th… (full text at CIViC)

PMID 31004028 · Tausch et al., 2019 · Open in CIViC

Associated with venetoclax resistance in high-risk CLL post ibrutinib in "progressive CLL"

PMID 32232486 · Lucas et al., 2020 · 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 study is a follow-up report after the original publication (PMID 30514704). R107_R110dup mutation was identified in combination with other BCL2 mutations including G101V in 5 CLL patients with ve… (full text at CIViC)

PMID 31951646 · Blombery et al., 2020 · Open in CIViC

Associated with venetoclax resistance in high-risk CLL patients post ibrutinib in 2 cases of "progressive CLL" and 1 case of Richter transformation

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

This study is a follow-up report after the original publication (PMID 30514704). R129L mutation was identified in combination with other BCL2 mutations including G101V in 2 CLL patients with venetocla… (full text at CIViC)

PMID 31951646 · Blombery et al., 2020 · 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 is a follow-up report after the original publication (PMID 30514704). V156D mutation was identified in combination with other BCL2 mutations including G101V in 6 CLL patients with venetocla… (full text at CIViC)

PMID 31951646 · Blombery 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

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

In this study involving 574 pediatric B-ALL patients (from a Dutch/German cohort), 77 were shown to be Ph-like cases identified by hierarchical clustering of gene expression data. In one male patient … (full text at CIViC)

PMID 27894077 · Boer et al., 2017 · Open in CIViC

A 47-year-old man was diagnosed with pre-B-cell acute lymphoblastic leukemia. FISH and nested PCR revealed the patient had a t(4;22)(q12;11) translocation that created an in-frame BCR-PDGFRA fusion. T… (full text at CIViC)

PMID 12944919 · Trempat et al., 2003 · Open in CIViC

A 39-year-old Chinese man was hospitalized in May 2021 with concerns of thirst and weight loss. Immature B lymphocytes were detected in blood (83.8%) and bone marrow (87%) and FISH showed the absence … (full text at CIViC)

PMID 41143846 · Hua et al., 2024 · Open in CIViC

BIRC3 mutations have been described in MCL in multiple studies

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

BIRC3 mutations were identified in 23 of 919 screened CLLs. They are strongly linked to non-mutated IGHV genes (18/23, P = 0.0001), a widely recognized prognostic signature for poor outcome.

PMID 24943832 · Baliakas et al., 2015 · 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

A preclinical study investigated BTK inhibitor ibrutinib as a potential inhibitor for patients with pre-BCR + B cell acute lymphoblastic leukemia (B-ALL). In validating the significance of BTK and BLK… (full text at CIViC)

PMID 28031181 · Kim et al., 2017 · Open in CIViC