Hematopoietic and Lymphatic System Neoplasm

Atypical Chronic Myeloid Leukemia has the same symptoms as CML, but it lacks the BCR-ABL1 fusion. The researchers transfected 293T cells with SETBP1 G870S, a variant found to be associated with poor p… (full text at CIViC)

PMID 23222956 · Piazza et al., 2013 · 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 cancer-associated SF3B1-K700E mutation compromises homologous recombination repair and increases the sensitivity to ionising radiation and DNA damaging agents, such as etoposide or small molecule … (full text at CIViC)

PMID 35027467 · Lappin et al., 2022 · Open in CIViC

In a study of 406 previously untreated CLL cases, a multivariate analysis indicated SF3B1 mutations (N=51) were significantly associated with reduced time to first treatment (HR: 1.73; 95%CI: 1.05-2.8… (full text at CIViC)

PMID 26837699 · Nadeu et al., 2016 · Open in CIViC

In a multivariate analysis of 774 CLL patients, SF3B1 mutations were significantly correlated with shorter time to first treatment (HR=1.644; 95% CI=1.134-2.383). This finding was independent of IGHV … (full text at CIViC)

PMID 24943832 · Baliakas et al., 2015 · 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

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 SMU1-JAK2 fusion is rare; in this study invol… (full text at CIViC)

PMID 27870571 · Roberts et al., 2017 · 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 SNX29-JAK2 fusion is rare; in this study invo… (full text at CIViC)

PMID 27428428 · Liu et al., 2016 · Open in CIViC

This retrospective study intended to clarify clinical characteristics of patients with B-lymphoblastic leukemia/lymphoma (B-ALL) and kinase fusions that are not well described (excluding ETV6-RUNX1, E… (full text at CIViC)

PMID 27176795 · Imamura et al., 2016 · 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

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

This study describes a 32-year-old female with atypical chronic myeloid leukemia (aCML) and a complex translocation [(t(2;13;2;21)(p13;q12;q33;q11.2)] resulting in a novel in frame SPTBN1::FLT3 fusion… (full text at CIViC)

PMID 17764812 · Grand et al., 2007 · Open in CIViC

Patients with Acute Myeloid Leukemia showed an synergistic mortality rate with ASXL1 and SRSF2 co-mutations such that individual mutations of either ASXL1 or SRSF2 resulted in ~20% probability of surv… (full text at CIViC)

PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC

Several splicing factors known to drive myeloid neoplasms (including SRSF2) require phosphorylation by CLK family kinases for nuclear translocation. The authors describe development of an inhibiter of… (full text at CIViC)

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The SRSF2 P95L mutation, located in the RNA recognition motif domain, is a statistically significant hotspot in myeloid malignancies. In vitro studies using HeLa and K562 cells show that P95L disrupts… (full text at CIViC)

PMID 26124281 · Komeno et al., 2015 · Open in CIViC

Several splicing factors known to drive myeloid neoplasms (including SRSF2) require phosphorylation by CLK family kinases for nuclear translocation. The authors describe development of an inhibiter o… (full text at CIViC)

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Patients originated from 4 international (UK, Netherlands, Germany, and US) studies, and included 16 B-cell precursor ALL (B-ALL) patients (aged 2-29 years) with SSBP2-CSF1R fusions arising from diffe… (full text at CIViC)

PMID 33197935 · Schwab et al., 2021 · Open in CIViC

A multicenter, retrospective study that included 1389 consecutively enrolled, newly diagnosed patients with B-lineage acute lymphoblastic leukemia (B-ALL). There were 3 patients that harbored SSPB2-CS… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · 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 CRLF2 n… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · 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 SSBP2-JAK2 fusion is rare; In this study invol… (full text at CIViC)

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

The STAG2 p.His421Thrfs*4 mutation is a truncating frameshift variant located in exon 14 of the STAG2 gene, a core component of the cohesin complex. Truncating mutations in STAG2 are recurrent across … (full text at CIViC)

PMID 22135298 · Hornbeck et al., 2012 · Open in CIViC

Sequencing of 93 secondary acute myeloid leukemias (AML) compared to 180 TCGA de novo AMLs identified STAG2 mutations had >95% sensitivity for being diagnostic of secondary AML, identifying a patient … (full text at CIViC)

PMID 25550361 · Lindsley et al., 2015 · Open in CIViC

In a retrospective cohort study of 389 uniformly treated acute myeloid leukemia (AML) patients, 23 patients harbored mutations in genes of the cohesin complex including 5 who harbored mutations in STA… (full text at CIViC)

PMID 24335498 · Thol et al., 2014 · 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

Meta-analysis of 275 T-cell prolymphocytic leukemia (T-PLL) patients from 10 different studies. Sequencing data from each study (Sanger sequencing, targeted amplicon sequencing, whole exome sequencing… (full text at CIViC)

PMID 31766351 · Wahnschaffe et al., 2019 · 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

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

A case report of a 74 year old female who was diagnosed with MPAL, B/myeloid with bone marrow blasts were positive for myeloperoxidase, CD19, and CD22. Chromosome analysis showed 46,XX,+1,der(1;18)(q1… (full text at CIViC)

PMID 27607436 · Yamamoto et al., 2016 · 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 BCR-ABL1-like (Ph-like) gene expression signature. RT-PCR or RNAseq perf… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · 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