Hematopoietic and Lymphoid Cell Neoplasm

In this study, 560 cases of B-ALL were analyzed by RNAseq, 22 (3.9%) of which (3.9%) demonstrated rearrangements of MEF2D at chromosome 1q21–22, encoding myocyte enhancer factor 2D, representing 15 of… (full text at CIViC)

PMID 27824051 · Gu et al., 2016 · Open in CIViC

MEF2D encodes myocyte enhancer factor 2D and is mapped to chromosome 1q21–22. It is expressed throughout B-cell differentiation and inactivation of Mef2c/d results in an arrest in B-lymphoid maturatio… (full text at CIViC)

PMID 27824051 · Gu et al., 2016 · Open in CIViC

Tumor DNA sequencing identified MEN1 mutations at several residues in the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting five variants identified a total of 4 patients fro… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

Tumor DNA sequencing identified the MEN1 G326R (aka G331R) variant in one patient (#2, who also had a MEN1 M322I) on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting fiv… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

Tumor DNA sequencing identified the MEN1 M322I (aka M327I) variant in two patients (#5 & 6) on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting five variants identified … (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

Tumor DNA sequencing identified the MEN1 M322V (aka M327V) variant in two patients (#1 & 3) with KMT2A rearranged AML on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targetin… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

In follow up analyses of the AUGMENT-101 trial of revumenib in patients with acute leukemia, the authors identify MEN1 variants in bone marrow specimens obtained after treatment. These variants were n… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

The S155C (S160C) variant was detected in one of 22 patient derived xenograft of several AML models after long term treatment with the MENIN inhibitor VTP-50469. In this graft, it co-occured with a M… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

Tumor DNA sequencing identified the MEN1 S155T (aka S160T) variant in one patient (#3, who also had a MEN1 M322V) on the AUGMENT-101 phase 1 trial of Revumenib. The S155T variant was NOT detected in a… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · Open in CIViC

Tumor DNA sequencing identified the MEN1 T344M (aka T349M) variant in one patient (#4) on the AUGMENT-101 phase 1 trial of Revumenib. An additional ddPCR assay targeting five variants identified a tot… (full text at CIViC)

PMID 36922589 · Perner et al., 2023 · 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

Novel BRAF gene fusion in Langerhans Cell Histiocytosis lesions results in constitutive ERK activation that is responsive to second-generation BRAF and MEK inhibitors, but not to a BRAF-V600E inhibito… (full text at CIViC)

PMID 27729324 · Chakraborty et al., 2016 · Open in CIViC

The authors performed an integrative analysis of genomes, exomes and transcriptome data from DLBCL and identified recurrent coding and non-coding loci that are commonly mutated in DLBCL

PMID 30275490 · Arthur et al., 2018 · Open in CIViC

Diagnostic criterion for essential thrombocytemia according to the World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues 2016.

PMID 27069254 · Arber et al., 2016 · Open in CIViC

In a study of activation mutations in MPL were prognostically informative for overall survival. They occur in 4% with ET and 8% with Primary Myelofibrosis.

PMID 25037629 · Tefferi et al., 2014 · Open in CIViC

Comprehensive genomic characterization was undertaken in a total of 2035 patients including 1321 patients with essential thrombocythemia, 356 with polycythemia vera, 309 with myelofibrosis, and 49 wit… (full text at CIViC)

PMID 30304655 · Grinfeld et al., 2018 · Open in CIViC

Found MPL W515L mutation in 4/45 MF patients' bone marrow but not cheek DNA. Expression of the mutated gene in cell cultures (BaF3, 3D, or UT-7 cells) resulted increased cell growth, and in mice (via … (full text at CIViC)

PMID 16834459 · Pikman et al., 2006 · Open in CIViC

A targeted sequencing study of 135 relapsed/refractory DLBCL patients identified an association between missense mutations in MS4A1 and acquired resistance to R-CHOP.

PMID 32589730 · Rushton et al., 2020 · Open in CIViC

Acute basophilic leukemia is a very rare subtype of acute myeloid leukemia. This study reports 4 cases of ABL with a t(X;6)(p11;q23) translocation occurring in male infants. Authors performed multiple… (full text at CIViC)

PMID 21474671 · Quelen et al., 2011 · Open in CIViC

In this 2014 genomic profiling study of 1,725 patients with precursor B-cell acute lymphoblastic leukemia (B-ALL), the authors define the high-risk "Philadelphia chromosome-like" (Ph-like or BCR::ABL1… (full text at CIViC)

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

Four myeloma cell lines were treated with two different BET inhibitors (I-BET151 or JQ1). Proliferation of three cell lines (KMS11, RPMI8226 and MM1S) but not U266 (only partial inhibition) was strong… (full text at CIViC)

PMID 27276402 · Suzuki et al., 2016 · Open in CIViC

BET inhibition by JQ1 downregulates MYC transcription, followed by genome-wide downregulation of Myc-dependent target genes. In experimental models of multiple myeloma, a Myc-dependent hematologic mal… (full text at CIViC)

PMID 21889194 · Delmore et al., 2011 · Open in CIViC

MYC translocations, often (but not always) involving immunoglobulin loci, are common in DLBCL and one of two defining features of high-grade B-cell lymphoma with MYC and BCL2 rearrangements

PMID 35653592 · Campo et al., 2022 · Open in CIViC

MYC and BCL2 rearrangements together are defining diagnostic features of this new entity

PMID 35653592 · Campo et al., 2022 · Open in CIViC

In 2016 the WHO added a new category of lymphoma, separate from diffuse large B-cell lymphoma, termed high-grade B-cell lymphoma with MYC AND [BCL2 OR BCL6] translocations. These represent less than 1… (full text at CIViC)

PMID 28600333 · Friedberg, 2017 · Open in CIViC

A meta-analysis of 40 published studies on 2736 DLBCL patients. The MYD88 L265P mutation was significantly associated with old age and poor overall survival, but not with sex and clinical stage. This … (full text at CIViC)

PMID 28496180 · Lee et al., 2017 · Open in CIViC

MYD88 mutations were identified in 24 of 1080 screened CLLs. They were exclusively seen in instances of mutated IGHV genes (18/23, P = 0.0001), a widely recognized prognostic signature for better out… (full text at CIViC)

PMID 24943832 · Baliakas et al., 2015 · Open in CIViC

This study describes a novel MYO18A::FLT3 fusion in a 47-year-old male with mixed myelodysplastic/myeloproliferative features. He presented with leukocytosis, splenomegaly, and atypical chronic myeloi… (full text at CIViC)

PMID 30559310 · Zhang 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

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 NFKBIE.

PMID 32160292 · Pararajalingam et al., 2020 · 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 authors performed an integrative analysis of genomes, exomes and transcriptome data from DLBCL and identified recurrent coding and non-coding loci that are commonly mutated in DLBCL

PMID 30275490 · Arthur et al., 2018 · Open in CIViC

The authors performed an integrative analysis of genomes, exomes and transcriptome data from DLBCL and identified recurrent coding and non-coding loci that are commonly mutated in DLBCL

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

In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC)

PMID 16614245 · Breit et al., 2006 · Open in CIViC

In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC)

PMID 16614245 · Breit et al., 2006 · Open in CIViC

In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC)

PMID 16614245 · Breit et al., 2006 · Open in CIViC

In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC)

PMID 16614245 · Breit et al., 2006 · Open in CIViC

In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC)

PMID 16614245 · Breit et al., 2006 · Open in CIViC

In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC)

PMID 16614245 · Breit et al., 2006 · Open in CIViC

In a study of 157 patients under 18 years of age, with T-cell lymphoblastic leukemia (T-ALL), the frequency of NOTCH1 mutations was 52.2% (82/157). Patients with these mutations were associated with i… (full text at CIViC)

PMID 16614245 · Breit et al., 2006 · Open in CIViC

Genetic evaluation of a single patient with a complete response in a phase 1 trial of PF-03084014 revealed the presence of a known activating NOTCH1 mutation, L1678P.

PMID 26407235 · Papayannidis et al., 2015 · Open in CIViC

In a study of 406 previously untreated CLL cases, a multivariate analysis indicated clonal NOTCH1 mutations (N=55) were significantly associated with reduced overall survival (HR: 1.5; 95%CI: 1.13-1.9… (full text at CIViC)

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

In a multivariate analysis of 774 CLL patients, NOTCH1 mutations were not significantly correlated with shorter time to first treatment (HR=1.305; 95% CI=0.923-1.847).

PMID 24943832 · Baliakas et al., 2015 · Open in CIViC