Lymphoid Neoplasm

This is a case report from MD Anderson Cancer Center. A 40yo Caucasian male patient was diagnosed with B-ALL with IGH::EPOR fusion. The patient received 4 cycles of R-hyper-CVAD and archived CR with M… (full text at CIViC)

PMID 32330662 · Liu et al., 2020 · Open in CIViC

This 2021 study reports 3 adolescent/young adult patients with IGH::EPOR-positive B-ALL treated with post-induction chemotherapy combined with JAKi ruxolitinib or TKI ponatinib. Patient 1 was hispanic… (full text at CIViC)

PMID 34196168 · Niswander et al., 2021 · Open in CIViC

In this 2019 study, the authors included 8 patients with B-ALL presenting with t(5;14)(q31;q32) and reviewed another 16 patients from the literature. The median age at onset was 14.3 years (range of 4… (full text at CIViC)

PMID 31921638 · Fournier et al., 2019 · Open in CIViC

In this 2021 study the authors include four B-ALL cases with an IGH::IL3 gene fusion that initially were unable to be fully characterized by conventional methods. Patients' ages ranged from 6 to 19 ye… (full text at CIViC)

PMID 33991782 · Guenzel et al., 2021 · Open in CIViC

This prospective study reports 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, the 5-… (full text at CIViC)

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

A meta-analysis of 15 published studies including 5021 patients with B-ALL showed that IKZF1 had an unfavorable impact on event-free survival (HR=2.32) and overall survival (HR=2.56). The correlation … (full text at CIViC)

PMID 25335741 · Jia et al., 2014 · 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

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

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

This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes

PMID 29641966 · Schmitz et al., 2018 · 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

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

B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged, is a well- defined subgroup in the current WHO classification of hematologic malignancies.

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

In this study, the authors used long-distance inverse PCR and sequencing to comprehensively analyze KMT2A (MLL) gene rearrangements in 2,345 acute leukemia patients, including those with B-lymphoblast… (full text at CIViC)

PMID 28701730 · Meyer et al., 2018 · Open in CIViC

In this publication, the authors conducted a comprehensive genomic analysis of 2,754 pediatric acute lymphoblastic leukemia (ALL) cases using integrated whole genome, exome, and transcriptome sequenci… (full text at CIViC)

PMID 36050548 · Brady et al., 2022 · Open in CIViC

The rate of KMT2C/MLL3 mutations reported in DLBCL was above 20% in the Zhang study but much lower in other studies (around 5%). Although the mutations do continue to be observed, the relevance and fr… (full text at CIViC)

PMID 23292937 · Zhang et al., 2013 · Open in CIViC

MLL2 was found to be the most frequently mutated gene in a sample of 31/35 follicular lymphoma patients and was not mutated in normal centroblast samples. Furthermore, MLL2 mutations were as frequentl… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

One of the most common mutations in DLBCL

PMID 21796119 · Morin et al., 2011 · Open in CIViC

More common in DLBCL but also mutated in BL

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

[the study] identified 25 significantly mutated genes, including known drivers such as ataxia-telangectasia mutated (ATM), cyclin D1 (CCND1), and the tumor suppressor TP53; mutated genes encoding the …

Fusion of the KMT2E promoter with the complete coding sequence of ASNS was observed in two relapsed ETP-ALL patients treated with l-asparaginase. The variant was shown to significantly increase ASNS e… (full text at CIViC)

PMID 28069604 · Khater et al., 2017 · Open in CIViC

In a retrospective study of 439 patients with multiple myeloma enrolled in a clinical trial, 28 had mutations in KRAS (22/28 in G12/G13). Those with KRAS (but not NRAS) mutations had worse overall (me… (full text at CIViC)

PMID 18528420 · Chng et al., 2008 · Open in CIViC

The presence of KRAS mutations in MM patients is prognostic for shorter overall and progression free survival.

PMID 18528420 · Chng et al., 2008 · Open in CIViC

In a study of patients receiving melphalan-based therapy, those with KRAS codon 12 mutations were less likely to have a positive response than those with wildtype KRAS (26.9% vs. 58.3%, P=0.015).

PMID 19284554 · Greco et al., 2009 · Open in CIViC

Activating mutations in KRAS or NRAS were observed more frequently in multiple myeloma patients than in patients with monoclonal gammopathy of uncertain significance (MGUS) (31% vs. 5% ). Another stu… (full text at CIViC)

PMID 11524732 · Bezieau et al., 2001 · Open in CIViC