Acute Lymphoblastic Leukemia

This study highlights the diagnostic significance of DUX4 gene rearrangements in a distinct molecular subtype of B-lymphoblastic leukemia/lymphoma (B-ALL). Among 1,913 B-ALL cases, including 1,347 chi… (full text at CIViC)

PMID 27776115 · Zhang et al., 2016 · Open in CIViC

In this study, the authors analyzed the fusion gene landscape in pediatric B-lymphoblastic leukemia (B-ALL) across 195 cases using RNA sequencing. Fusion genes were identified in 127 cases (65%), incl… (full text at CIViC)

PMID 27265895 · Lilljebjörn et al., 2016 · Open in CIViC

This study highlights the diagnostic significance of DUX4 rearrangements in identifying a distinct molecular subtype of B-lymphoblastic leukemia/lymphoma (B-ALL). Using transcriptome sequencing of 1,9… (full text at CIViC)

PMID 30643249 · Gu et al., 2019 · Open in CIViC

IKZF1 deletions in patients with BCR-ABL–positive adult acute lymphoblastic leukemia were associated with reduced disease-free survival compared to wild type patients.

PMID 19770381 · Martinelli et al., 2009 · Open in CIViC

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

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

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

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

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

KMT2A, also called MLL (MIXED- LINEAGE-LEUKAEMIA) gene is mapped to chromosome band 11q23, a region of recurrent rearrangements in acute leukemias. Collectively, acquired abnormalities in the 11q23 re… (full text at CIViC)

PMID 12057554 · Pui et al., 2002 · Open in CIViC

Cell lines with MEF2D-CSF1R fusion show sensitivity to the tyrosine kinase inhibitors Imatinib and GW-2580.

PMID 24186003 · Lilljebjörn et al., 2014 · 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

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

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

CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 D407A mutation had increased resistance to 6-mercaptopurine and 6-thioguanine treatment than cells expressing wildtype NT5C… (full text at CIViC)

PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC

CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (K359Q, R367Q or D407A) observed in relapsed T-ALL patients showed no difference in sensitivity to nelarabine or arabinosylguanine… (full text at CIViC)

PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC

The K359Q somatic mutation was significantly correlated with early disease recurrence and relapse in 103 T-cell ALL regardless of treatment course. The data was obtained from Berlin Frankfurt Münster … (full text at CIViC)

PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC

CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (K359Q, R367Q or D407A) observed in relapsed T-ALL patients showed no difference in sensitivity to nelarabine or arabinosylguanine… (full text at CIViC)

PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC

Within a cohort of 71 pediatric B-ALL relapse cases, all 7 patients with NT5C2 mutations detected at relapse demonstrated early relapse (<36 months from initial diagnosis) with a median time to relaps… (full text at CIViC)

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samples sequenced for NT5C2 mutations. Sequencing revealed 3 early relapse cases with NT5C2 R238W enrich… (full text at CIViC)

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

Overexpression of NT5C2 R238W in Reh cells resulted in no change in response to cytarabine, gemcitabine, doxorubicin or prednisolone versus wildtype or GFP controls as indicated by similar apoptosis.

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

Lentiviral mediated overexpression of NT5C2 R367Q in Reh cells resulted in no change in apoptosis after exposure to cytarabine, gemcitabine, doxorubicin, or prednisolone compared to wildtype NT5C2 ove… (full text at CIViC)

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 R367Q mutation had increased resistance to 6-mercaptopurine and 6-thioguanine treatment than cells expressing wildtype NT5C… (full text at CIViC)

PMID 23377281 ·

71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samples sequenced for NT5C2 mutations. Sequencing revealed an early relapse case with NT5C2 S445F enrich… (full text at CIViC)

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

Overexpression of NT5C2 S445F in Reh cells resulted in no change in response to cytarabine, gemcitabine, doxorubicin or prednisolone versus wildtype or GFP controls as indicated by similar apoptosis.

PMID 23377183 · Meyer et al., 2013 · Open in CIViC

Patients from three (Guatemala, Singapore and Japan) separate cohorts harboring NUDT15 loss of function mutations displayed intolerance to Thiopurine treatment (p=0.021, 2.1e-5, & 0.0054). Patients wi… (full text at CIViC)

PMID 26878724 · Moriyama et al., 2016 · 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

Ba/F3 cells transduced with PAG1::ABL2 Fusion were found to show IL3 independent growth. Phosphoflow cytometric analysis showed increased phospho-STAT5, phospho-CRKL, and phospho-S6 over control Ba/F3… (full text at CIViC)

PMID 29296813 · Roberts 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