Hematopoietic and Lymphatic System Neoplasm

This study showed that CREBBP and EP300 were recurrently mutated in DLBCL

PMID 21390126 · Pasqualucci et al., 2011 · Open in CIViC

Mullighan et al analyzed a cohort of 71 diagnosis-relapse cases and 270 acute leukaemia cases that did not relapse. The authors found that 18.3% of relapse cases had sequence or deletion mutations of … (full text at CIViC)

PMID 21390130 · Mullighan et al., 2011 · Open in CIViC

Lymphoma cell lines with CREBBP R1446C mutations demonstrated heightened sensitivity to the HDAC3 inhibitor BRD3308. Both CREBBP R1446C and CREBBP KO cell lines showed significantly greater inhibition… (full text at CIViC)

PMID 31915197 · Mondello et al., 2020 · Open in CIViC

In vitro expression experiments of CRLF2 F232C in murine BaF3 cells and human UT7 cells show that this mutation leads to constitutive dimerization and cytokine-independent signaling. This leads to tra… (full text at CIViC)

PMID 20018760 · Yoda et al., 2010 · Open in CIViC

The CRLF2 Phe232Cys somatic mutation was identified in 3/14 adult B-ALL specimens overexpressing CRLF2. Functional studies in BaF3 cells demonstrated constitutive dimerization, and retains ability to … (full text at CIViC)

PMID 20018760 · Yoda et al., 2010 · Open in CIViC

CRLF2 is overexpressed in 7% of B cell ALL. In KZF1-mutated, BCR-ABL1-negative ALL, also refers as “Ph-like ALL” , 50 % of these “Ph-like ALL” carry rearrangements of CRLF2 (CRLF2r). In particular, IG… (full text at CIViC)

PMID 22897847 · Roberts et al., 2012 · Open in CIViC

To investigate the therapeutic potential of JAK inhibitors in pediatric B-ALL, the authors examined the efficacy of rapamycin in murine xenograft models of 8 pediatric B-ALL cases. Five xenografts (I … (full text at CIViC)

PMID 22955920 · Maude et al., 2012 · Open in CIViC

Lack of association of CRLF2 V2del with any clinical value in acute lymphocytic leukemia.

PMID 29449437 · Sinclair et al., 2018 · Open in CIViC

Type evidence here

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

Study found that mutations in CSF3R are enriched in patients with Chronic Neutrophilic Leukemia (CNL) or Atypical Chronic Myeloid Leukemia (16/27, 59%) when compared to other blood disorders (AML=1/29… (full text at CIViC)

PMID 23656643 · Maxson et al., 2013 · Open in CIViC

Study found that mutations in CSF3R are enriched in patients with Chronic Neutrophilic Leukemia (CNL) or Atypical Chronic Myeloid Leukemia (16/27, 59%) when compared to other blood disorders (AML=1/29… (full text at CIViC)

PMID 23656643 · Maxson et al., 2013 · Open in CIViC

Tarlock et al. (2020) report the incidence of CSF3R mutations in a large cohort of pediatric AML; CSF3R mutations almost always cooccured mutually exclusively with either CEBPA variants or t(8;21). Th… (full text at CIViC)

PMID 32187354 · Tarlock et al., 2020 · Open in CIViC

Case report of a patient treated with ruxolitinib, an FDA-approved JAK1/2 inhibitor, which resulted in dramatic improvement of his blood counts. He also had significant reduction of spleen volume and … (full text at CIViC)

PMID 25180155 · Dao et al., 2014 · Open in CIViC

Clinical responses to NY-ESO-1/LAGE-1 TCR-engineered T-cells were observed in 16 of 20 patients (80%) with advanced multiple myeloma expressing NY-ESO-1 and/or LAGE-1 in this Phase 1/2a trial showing … (full text at CIViC)

PMID 26193344 · Rapoport et al., 2015 · Open in CIViC

Clinical responses to NY-ESO-1/LAGE-1 TCR-engineered T-cells were observed in 16 of 20 patients (80%) with advanced multiple myeloma expressing NY-ESO-1 and/or LAGE-1 in this Phase 1/2a trial showing … (full text at CIViC)

PMID 26193344 · Rapoport et al., 2015 · Open in CIViC

A 67-year-old Caucasian female with stage IVA Sezary syndrome presented refractory to traditional therapy and was enrolled in a whole genome study trial. Sequencing revealed a CTLA4-CD28 fusion protei… (full text at CIViC)

PMID 25802883 · Sekulic et al., 2015 · Open in CIViC

Identified from whole genome sequencing of DLBCL

PMID 23131835 · Khodabakhshi et al., 2012 · Open in CIViC

DAZAP1 has been demonstrated to be recurrently mutated in multiple studies of MCL

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

dddd

PMID 23463675 · Ponti et al., 2013 · Open in CIViC

DDX3X mutations are one of the most common somatic alterations in BL. This is just an arbitrarily chosen example of a mutation observed in the cited study.

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

Identified from exome sequencing of 574 DLBCL biopsies

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

The G530D variant was identified in 8 patients with myeloid neoplasm who had somatic status confirmed by buccal swab or sorted T-cells; germline variants included none in 3 patients (one of whom had a… (full text at CIViC)

PMID 36322930 · Makishima et al., 2023 · Open in CIViC

DDX41 p.G530D (NM_016222.2) was detected in the germline of 5 family members. Family H's pedigree can be seen in Fig. 1H - which includes: 1) III.6 (proband) was diagnosed with AML at 50 (CBC paramete… (full text at CIViC)

PMID 26712909 · Lewinsohn et al., 2016 · Open in CIViC

In a cohort of 5,801 patients with hematologic malignancies evaluated using next-generation sequencing (NGS)–based myeloid panels, 90 patients were identified with at least one DDX41 alteration at >40… (full text at CIViC)

PMID 33585199 · Bannon et al., 2020 · Open in CIViC

Eight members of larger pedigree spanning four generations with inherited hematological cancers were sequenced with whole exome sequencing or sanger sequencing of DDX41 exons 5 and 6. A mutation c.490… (full text at CIViC)

PMID 26712909 · Lewinsohn et al., 2016 · Open in CIViC

In adult patients with early (n = 30), cortical (n = 30), mature (n = 3) or unknown (n = 8) T-cell acute lymphoblastic leukemia, those with mutations in DNMT3A (n=12) had shorter overall survival than… (full text at CIViC)

PMID 23341344 · Grossmann et al., 2013 · Open in CIViC

In AML patients aged <60years, presence of a DNMT3A mutation associated with inferior CR rate (HR, 0.54; P=.05) and shorter OS (HR, 1.84; P<.001) in multivariate analyses. Mutated DNMT3A associated wi… (full text at CIViC)

PMID 27288520 · Metzeler et al., 2016 · Open in CIViC

Previously only reported in haematopoietic and lymphoid malignancies, P904 is a likely activating event, whose function has not been well characterized. In the tertiary protein structure, the mutation… (full text at CIViC)

PMID 21415852 · Walter et al., 2011 · Open in CIViC

AML patients with DNMT3A mutations (59% of which were R882) showed worse survival (event-free and overall) outcome than those without DNMT3A mutation.

PMID 21067377 · Ley et al., 2010 · Open in CIViC

In AML patients with FLT3-ITD mutations, concurrent DNMT3A mutations (including R882) were associated with worse overall survival compared to those without DNMT3A mutation.

PMID 21067377 · Ley et al., 2010 · Open in CIViC