Hematopoietic and Lymphoid Cell Neoplasm

A targeted copy number screen of 131 precursor B-ALL cases revealed that IKZF1 deletions are significantly associated with poor relapse-free and overall survival rates. Furthermore non-high-risk patie… (full text at CIViC)

PMID 20445578 · Kuiper et al., 2010 · Open in CIViC

The authors showed that in addition to the commonly observed exon 4-7 deletions and whole-gene deletions, rare IKZF1 deletions (DEL 2-7, DEL 2-8 and others) were also associated with inferior prognos… (full text at CIViC)

PMID 26202931 · Boer et al., 2016 · Open in CIViC

This study reports on a cohort of NCI high-risk, Ph-negative pediatric patients with B-ALL. Twenty eight out of 94 patients (~30%) were found to harbor IKZF1 deletions, which were associated with male… (full text at CIViC)

PMID 29507076 · Tran et al., 2018 · Open in CIViC

An analysis of clinical and molecular data (n=239) from acute lymphoblastic leukemia (B-ALL) revealed that deletion of the tumor suppressor IKZF1 results in poor prognosis of B-ALL in Hispanic/Latino … (full text at CIViC)

PMID 33531655 · Raca et al., 2021 · Open in CIViC

This prospective study reports on the prognosis of patients with B-ALL and an IKZF1 deletion and the impact of intensification of treatment in this subgroup. In 50 patients from the MS2003 cohort, th… (full text at CIViC)

PMID 30044693 · Yeoh et al., 2018 · Open in CIViC

83 of 991 cases of pediatric B-cell precursor (BCP) acute lymphoblastic leukemia (ALL) were found to have IKZF1 deletion, previously reported as an independent factor associated with a poor prognosis.… (full text at CIViC)

PMID 29498923 · Stanulla et al., 2018 · Open in CIViC

Based on a larger collection of 325 de novo DLBCL cases, the authors identified tumors with DLBCL morphology and a primary mediastinal B-cell lymphoma gene expression signature and identified mutation… (full text at CIViC)

PMID 33684939 · Duns et al., 2021 · Open in CIViC

Activating exon 6 IL7R mutations were found in 17 out of 201 pediatric T-ALL cases (9%). These mutations consisted of in-frame insertions of several amino-acid residues, including cysteine, in the ex… (full text at CIViC)

PMID 21892159 · Zenatti et al., 2011 · Open in CIViC

The manuscript shows that somatic gain-of-function mutations in IL7R occur in the cases of pediatric B-lymphoblastic leukemias characterized by aberrant expression of cytokine receptor-like factor 2 (… (full text at CIViC)

PMID 21536738 · Shochat et al., 2011 · 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

mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had significant evidence for recurrent mutation and positive selective pressure (Table 1). This is one of tho… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · 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

A patient derived Ph-like B-ALL Xenograft (V) harboring the JAK1 S646F mutation was treated with ruxolitinib. Compared to vehicle, the ruxolitinib treated Xenograft had lower peripheral and splenic b… (full text at CIViC)

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

A 17-year-old Native American female with B-ALL had persistent MRD at the end of induction. In addition to a complex karyotype, sequencing revealed a novel F694L mutation in JAK2, a p.Cys119_Ile121del… (full text at CIViC)

PMID 27860260 · Mayfield et al., 2017 · Open in CIViC

In a phase II study of JAK2 inhibitor ruxolitinib, patients with advanced relapsed or refractory Hodgkin lymphoma examined potential JAK2 amplification in 12 patients which found JAK1 amplification to… (full text at CIViC)

PMID 29351986 · Van Den Neste et al., 2018 · Open in CIViC

JAK2 V617F is not associated with lymphoid leukemia (B-lineage ALL, T-ALL or CLL).

PMID 16081687 · Levine et al., 2005 · Open in CIViC

JAK2 V617F is associated with myeloid malignanices (AML, MDS, CMML/atypical CML).

PMID 16081687 · Levine et al., 2005 · Open in CIViC

Mice transplanted with bone marrow progenitor cells expressing JAK3 mutants (including M511I) developed a long-latency transplantable T-ALL-like disease, characterized by an accumulation of immature C… (full text at CIViC)

PMID 25193870 · Degryse et al., 2014 · Open in CIViC

This is an international retrospective study by International Berlin-Frankfurt-Munster (I-BFM) AML study group including 543 pediatric AML patients from 18 countries diagnosed between 1995-2005. The a… (full text at CIViC)

PMID 23974201 · Coenen et al., 2013 · Open in CIViC

This manuscript is the first report of a unique expression profile in pediatric AML with KAT6A::CREBBP gene fusion (known also as MOZ::CBP or MYST3::CREBBP). Genomic studies and gene expression profil… (full text at CIViC)

PMID 20630590 · Serravalle et al., 2010 · Open in CIViC

An array of KDM6 deficient AMP cells showed increased sensitivity to PARP inhibition. In a mouse model xenotransplant with a KDM6A loss of function AMP cell line increased susceptibility to PARP block… (full text at CIViC)

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Dual targeting of PARP (olipartinib) and BCL2 (venetoclax) was reported to be superior to either PARP or BCL2 inhibition alone in inducing primary AML cell apoptosis, and loss of KDM6A further enhance… (full text at CIViC)

Open in CIViC

28 yo with acute B-lymphoblastic leukemia. RNA seq showed KIF5B::FGFR1 fusion. Fusion was reported to be in-frame. The FGFR1 fusion and its protein expression were validated by Sanger sequencing and W… (full text at CIViC)

PMID 38023217 · Zhang et al., 2023 · Open in CIViC

In an in vitro kinase study, the recombinant RET V804L mutant kinase demonstrated resistance to dasatinib treatment at concentrations of 1μM and 10μM (activity %: 101 and 91) when compared to wild typ… (full text at CIViC)

PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC

In an in vitro study, the recombinant KIT D816H mutation kinase was associated with increased sensitivity to bosutinib treatment (IC50: 32nM), as compared to wild-type KIT (IC50: 6313 nM). Sensitivit… (full text at CIViC)

PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC

In an in vitro study, the recombinant KIT D816H mutation kinase was associated with increased sensitivity to dasatinib treatment(IC50: 2.6nM vs. 93.0nM), as compared to the wild-type KIT kinase. Sensi… (full text at CIViC)

PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC

In acute myloid leukemia patients, D816 mutation is associated with earlier relapse and poorer prognosis than wildtype KIT.

PMID 16384925 · Cairoli et al., 2006 · Open in CIViC

The D816V+ advanced systemic mastocytosis patients with additional mutations in SRSF2 (N=30), ASLX1 (N=20), or RUNX1 (N=16) exhibited lower overall survival over 14 years as compared to D816V+ patient… (full text at CIViC)

PMID 26464169 · Jawhar et al., 2016 · Open in CIViC