Hematopoietic and Lymphoid Cell Neoplasm

A multicenter, retrospective, cohort study that included 122 pediatric patients (aged 1-18 years) with newly diagnosed ABL-class fusion B-cell acute lymphocytic leukemia who had not received tyrosine-… (full text at CIViC)

PMID 33357483 · den Boer et al., 2021 · Open in CIViC

Transcriptome and whole genome sequencing were performed on 15 cases of B-lymphoblastic leukemia/lymphoma (B-ALL) that were previously shown to have a BCR-ABL1-like (Ph-like) expression signature. Two… (full text at CIViC)

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

Of 40 patients with BCR::ABL1-like (Ph-like) B-cell acute lymphoblastic leukemia (B-ALL), one 16-year-old male was found to have a NUP214::ABL1 fusion identified by genomic profiling (RT-PCR, next-gen… (full text at CIViC)

PMID 25049327 · Roberts et al., 2014 · Open in CIViC

A 26-year-old female with Philadelphia chromosome-like (Ph-like) B-cell acute lymphoblastic leukemia (B-ALL) had a NUP214::ABL1 fusion detected by a next-generation sequencing panel experienced persis… (full text at CIViC)

PMID 31014138 · Aldoss et al., 2019 · Open in CIViC

Functional activity and treatment response were evaluated for several fusions identified in patients with gene expression profiles showing BCR::ABL1-like B-ALL. Phosphoflow on leukemic samples from 2 … (full text at CIViC)

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

A 21-year-old patient with refractory B-cell acute lymphoblastic leukemia (B-ALL) had a NUP214::ABL1 fusion identified by clinical next-generation sequencing failed multiple prior treatment regimens, … (full text at CIViC)

PMID 37933765 · Shumock et al., 2023 · Open in CIViC

A 15-year-old girl with B-cell precursor ALL was placed into the very high risk group after showing corticoid resistance on treatment day 8, and induction failure on day 35 (MRD >0.01). The patient re… (full text at CIViC)

PMID 26681761 · Duployez et al., 2016 · Open in CIViC

In a cohort of six patients with NUP214::ABL1-positive Ph-like B-ALL, detected by multiplex molecular assays for fusion transcript identification, including RNA sequencing, treatment with ABL-directed… (full text at CIViC)

PMID 31434701 · Tanasi et al., 2019 · Open in CIViC

A 15-year-old male was diagnosed with B-cell ALL with a normal male karyotype by microarray (no aberrations >5Mb), normal FISH (including BCR::ABL1 and ABL1 breakapart) and aberrant phenotype B-lympho… (full text at CIViC)

PMID 36172171 · Stukaite-Ruibiene et al., 2022 · Open in CIViC

A 22-year-old male with B-cell acute lymphoblastic leukemia was treated with induction therapy. FISH using a BCR-ABL1 probe demonstrated 50-80 extrachromosomal copies of ABL1; FISH using probes to the… (full text at CIViC)

PMID 23175662 · Eyre et al., 2012 · Open in CIViC

Acute megakaryoblastic leukemia (AMKL) is a rare subtype of AML. CBFA2T3/GLIS2 and NUP98/KDM5A are recurrent aberrations, occurring in similar frequencies as RBM15/MKL1 and KMT2A-rearrangements. In th… (full text at CIViC)

PMID 27114462 · de Rooij et al., 2016 · Open in CIViC

In this study >1000 well-characterized pediatric and adult AML cases were screened using a NUP98/NSD1-specific RT-PCR. In the pediatric cohort (n = 293; age, 0-18 years), NUP98/NSD1 was present in 16.… (full text at CIViC)

PMID 21813447 · Hollink et al., 2011 · Open in CIViC

This publication examines coexpression of NUP98/NSD1 and FLT3/ITD in AML, remission, and survival rate in 1421 patients. The CR rate for patients with and without FLT3/ITD was 63% and 82%, respectivel… (full text at CIViC)

PMID 25145343 · Ostronoff et al., 2014 · Open in CIViC

In this 2016 study the authors included 153 pediatric non-Down syndrome patients diagnosed with acute megakaryoblastic leukemia (AMKL) which is a rare subtype of acute myeloid leukemia. All patients w… (full text at CIViC)

PMID 27114462 · de Rooij et al., 2016 · Open in CIViC

In this 2011 study the authors included pediatric and adult cohorts of patients diagnosed with acute myeloid leukemia (AML). Initially, using RT-PCR, they detected the cytogenetically cryptic NUP98::N… (full text at CIViC)

PMID 21813447 · Hollink et al., 2011 · Open in CIViC

To identify potentially druggable kinase fusions, this study of 278 B-ALL patients (all BCR-ABL1 negative), 34 (12.2%) harbored an IKZF1 deletion as determined by MLPA. Sufficient RNA from 16/34 of th… (full text at CIViC)

PMID 26404892 · Yano et al., 2015 · Open in CIViC

In this study involving 373 high risk pediatric B-ALL cases with no recurrent fusions, 29 were kinase-fusion positive as determined by mRNA-seq or mRT-PCR and validated by RT-PCR and Sanger. One case,… (full text at CIViC)

PMID 27176795 · Imamura et al., 2016 · 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

CRLF2 overexpression was examined in 90 adult B-ALL patients with demographic data that lacked characteristic rearrangements and identified overexpression in 15/90 (16.67%). Disease-free survival was … (full text at CIViC)

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

CRLF2 overexpression was performed by Q-PCR, IHC, and gene-expression profiling of 254 adult B-ALL samples. CRLF2 overexpression was identified in 15/120 (12.5%) or adult B-ALL cases that lacked chara… (full text at CIViC)

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

This study performed exome sequencing on 55 DLBCL tumor samples and identified several significantly mutated genes including.

PMID 22343534 · Lohr et al., 2012 · Open in CIViC

Mutations in this gene are common in BL according to several studies

PMID 25274307 · Muppidi et al., 2014 · 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

In a study using whole genome, exome and transcriptome sequencing of 2,754 childhood ALL patients, one patient with Ph-like B-ALL had PAG1::ABL2 reported. Patient ID was SJBALL020980. RNAseq, WES, WGS… (full text at CIViC)

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

The PAX5::AUTS2 represents a rare primary oncogenic driver in B-lymphoblastic Leukemia/lymphoma (B-ALL). An international cohort of 50 patients—including 16 previously reported cases—was assembled, w… (full text at CIViC)

PMID 39702796 · Caye-Eude et al., 2025 · 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

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

RNA-seq transcriptome analysis in a discovery cohort of 170 B-cell precursor acute lymphoblastic leukemia (BCP-ALL) cases negative for the common classifying cytogenetic aberrations identified severa… (full text at CIViC)

PMID 30510083 · Passet et al., 2019 · Open in CIViC

In a large-scale international study RNA sequencing was performed to delineate the transcriptome landscape of 1,223 B-cell ALL cases. Twenty two cases were found to have P80R misense mutation in the D… (full text at CIViC)

PMID 30487223 · Li et al., 2018 · Open in CIViC

Described in several BL studies after this one

PMID 26173642 · Wagener et al., 2015 · Open in CIViC

The 2016 World Health Organization guidelines for the classification of myeloid malignancies and acute leukemia describes a new class of disease defined by myeloid or lymphoid neoplasms associated wit… (full text at CIViC)

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

The PCM1-JAK2 fusion is typically associated with 'myeloid/lymphoid neoplasms with eosinophilia and gene rearrangements', which is a specific disease entity according to WHO classification. However, i… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · Open in CIViC

In this study, 18 patients with PCM1-JAK2 (n = 8), BCR-JAK2 (n = 1), and ETV6-ABL1 (n = 9) fusion genes were enrolled. RT-PCR was performed for confirmation of PCM1-JAK2, BCR-JAK2 and ETV6-ABL1 fusion… (full text at CIViC)

PMID 32279331 · Schwaab et al., 2020 · Open in CIViC

In an in vitro kinase study, the recombinant PDGFRA D842V mutant kinase demonstrated sensitivity to bosutinib treatment at concentrations of 1μM and 10μM (activity %: 25 and 6) when compared to wild t… (full text at CIViC)

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

Ba/F3 cells expressing two clinically relevant, imatinib-resistant, mutant forms of FIP1L1-PDGFRA, namely T674I and D842V were tested for growth inhibition by 8 PDGFR-blocking TKIs. Cells expressing D… (full text at CIViC)

PMID 24407160 · Sadovnik et al., 2014 · Open in CIViC

In a retrospective cohort study of 39 pediatric AML patients carrying PICALM::MLLT10 fusions, both the 5-year event-free survival rate (22%) and 5-year overall survival rate (26%) were poor.

PMID 37743097 · Mark et al., 2024 · Open in CIViC

Foundation panel results of baseline tumour samples from 48 patients with diffuse large B cell lymphoma identified PIM1 mutations in 6 patient samples, 5 of which were the DLBCL-ABC subtype. Four out … (full text at CIViC)

PMID 27904766 · Kuo et al., 2016 · Open in CIViC

This is one of the first of many genes identified as targets of aberrant somatic hypermutation in DLBCL

PMID 11460166 · Pasqualucci et al., 2001 · Open in CIViC

Foundation panel results of baseline tumour samples from 48 patients with diffuse large B cell lymphoma identified PIM1 mutations in 6 patient samples, 5 of which were the DLBCL-ABC subtype. Four out … (full text at CIViC)

PMID 27904766 · Kuo et al., 2016 · Open in CIViC