Hematologic Malignancy
B Acute Lymphoblastic Leukemia
CI-CAN-00001854B-ALLExplore in graph →
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Hematologic Malignancy
CI-CAN-00001854B-ALLExplore in graph →
Variants & evidence
27 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| PDGFRA Fusion1 | ||||||||
| Imatinib | B Acute Lymphoblastic LeukemiaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID7990A 47-year-old man was diagnosed with pre-B-cell acute lymphoblastic leukemia. FISH and nested PCR revealed the patient had a t(4;22)(q12;11) translocation that created an in-frame BCR-PDGFRA fusion. T… (full text at CIViC) PMID 12944919 · Trempat et al., 2003 · Open in CIViC | civic |
| BLK Expression1 | ||||||||
| Ibrutinib | B Acute Lymphoblastic LeukemiaALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID9288A preclinical study investigated BTK inhibitor ibrutinib as a potential inhibitor for patients with pre-BCR + B cell acute lymphoblastic leukemia (B-ALL). In validating the significance of BTK and BLK… (full text at CIViC) PMID 28031181 · Kim et al., 2017 · Open in CIViC | civic |
| BTK Expression1 | ||||||||
| Ibrutinib | B Acute Lymphoblastic LeukemiaALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID9287A preclinical study investigated BTK inhibitor ibrutinib as a potential inhibitor for patients with pre-BCR + B cell acute lymphoblastic leukemia (B-ALL). In validating the significance of BTK and BLK… (full text at CIViC) PMID 28031181 · Kim et al., 2017 · Open in CIViC | civic |
| PDGFRB Fusion2 | ||||||||
| (oncogenic) | B Acute Lymphoblastic LeukemiaALIAS | Oncogenic | D | Supports Oncogenicity | 4 | submitted | EID13181A somatic out-of-frame CD74intr::PDGFRB rearrangement joined CD74 exon 1 to PDGFRB exon 11 and retained 75 bp of CD74 intronic sequence containing a premature stop codon. Rather than producing a conve… (full text at CIViC) PMID 36810896 · Sadras et al., 2023 · Open in CIViC | civic |
| Dasatinib | B Acute Lymphoblastic LeukemiaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID13182A 22-month-old patient with high-risk Philadelphia chromosome-like B-cell acute lymphoblastic leukemia harboring CD74intr::PDGFRB had 46.3% residual bone marrow blasts at the end of induction therapy.… (full text at CIViC) PMID 36810896 · Sadras et al., 2023 · Open in CIViC | civic |
| CRLF2 F232C1 | ||||||||
| (prognostic) | Adult B Acute Lymphoblastic LeukemiaALIAS | Prognostic | D | Supports Poor Outcome | 4 | submitted | EID6094In 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 | civic |
| DUX4 Fusion + DUX4 Fusion1 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS | Diagnostic | B | Supports Positive | 4 | submitted | EID11523Integrated genomic analysis of was performed for 1,988 childhood and adult B-ALL cases. 106 cases (5.3%) showed DUX4 rearrangements, commonly with the IGH region. These cases were characterized by a u… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC | civic |
| ABL2 Fusion1 | ||||||||
| (oncogenic) | B Acute Lymphoblastic LeukemiaALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID12493In a study of 176 ALL patients, consisting of 136 B- and 40 T-lineage, multiplex nested RT-PCR was used to look for ETV6 fusions. One patient had ETV6::ABL2 fusion. Patient was a 17 year old with kary… (full text at CIViC) PMID 22373549 · Zhou et al., 2012 · Open in CIViC | civic |
| EZH2 A692V1 | ||||||||
| GSK126 | B Acute Lymphoblastic LeukemiaALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID11707The A687V EZH2-mutant SUP-B8 B-ALL cell line exhibited the greatest sensitivity to EZH2 inhibitor (GSK126) compared to 7 other EZH2 wild-type B-ALL cell lines by cell proliferation assay. The increase… (full text at CIViC) PMID 25253781 · Ott et al., 2014 · Open in CIViC | civic |
| FLT3 Overexpression1 | ||||||||
| Sunitinib | Adult B Acute Lymphoblastic LeukemiaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1528A 25-year-old Caucasian male presented with a second relapse of B-ALL. RNA sequencing revealed FLT3 overexpression (also confirmed by IHC). The patient was treated with 22 days of sunitinib, permittin… (full text at CIViC) PMID 27181063 · Griffith et al., 2016 · Open in CIViC | civic |
| CRLF2 Fusion1 | ||||||||
| (prognostic) | Adult B Acute Lymphoblastic LeukemiaALIAS | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID7212CRLF2 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 | civic |
| DUX4 Fusion4 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12248This study identifies DUX4 rearrangements, specifically IGH::DUX4 fusions, as diagnostic markers for a distinct molecular subtype of Philadelphia chromosome-negative (Ph−) B-lymphoblastic leukemia/lym… (full text at CIViC) PMID 27019113 · Yasuda et al., 2016 · Open in CIViC | civic |
| 〃 | B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12249This 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 | civic |
| 〃 | B Acute Lymphoblastic Leukemia with DUX4 Rearrangement | |||||||
| JAK2 F694L1 | ||||||||
| Ruxolitinib | B Acute Lymphoblastic LeukemiaALIAS | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID7021A 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 | civic |
| FGFR1 e15::e111 | ||||||||
| (oncogenic) | B Acute Lymphoblastic LeukemiaALIAS | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID1172528 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 | civic |
| KMT2A Rearrangement1 | ||||||||
| (diagnostic) | B Acute Lymphoblastic LeukemiaALIAS | Diagnostic | A | Supports Positive | 5 | submitted | EID8601B-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 | civic |
| MEF2D MEF2D Rearrangement1 | ||||||||
| (prognostic) | B Acute Lymphoblastic LeukemiaALIAS | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID8624MEF2D 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 | civic |
| CRLF2 Fusion2 | ||||||||
| (prognostic) | Adult B Acute Lymphoblastic LeukemiaALIAS | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID7211CRLF2 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 | civic |
| (diagnostic) | Adult B Acute Lymphoblastic LeukemiaALIAS | Diagnostic | B | Supports Positive | 4 | submitted | EID7213CRLF2 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 | civic |
| PAX5 P80R4 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with PAX5 P80R MutationALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID11519RNA-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 | civic |
| 〃 | B Acute Lymphoblastic Leukemia with PAX5 P80R MutationALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID7290In 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 | civic |
| 〃 | B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation | |||||||
| ABL2 Fusion2 | ||||||||
| (oncogenic) | Adult B Acute Lymphoblastic LeukemiaALIAS | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12963A 16.6-year-old Taiwanese male (Case #299) with B-ALL harbored a ZC3HAV1(exon 12)::ABL2(exon 2) fusion and concurrent deletions of CDKN2A/2B, PAX5 (exons 2–5), and IKZF1 (exons 2–8). The fusion was de… (full text at CIViC) PMID 33707599 · Hsu et al., 2021 · Open in CIViC | civic |
| Chemotherapy + DasatinibCombination | B Acute Lymphoblastic LeukemiaALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID12969A 38-year-old male with Ph-negative B ALL was found to harbor a ZC3HAV1 ABL2 rearrangement identified by massively parallel DNA sequencing (MPDS), consistent with a Philadelphia-like genotype. The leu… (full text at CIViC) PMID 28430957 · Chen et al., 2016 · Open in CIViC | civic |
Data updated 21 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
| Diagnostic |
| B |
| Supports Positive |
| 4 |
| accepted |
EID12250In 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 |
| civic |
| 〃 | B Acute Lymphoblastic Leukemia with DUX4 RearrangementALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12251This 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 | civic |
| Diagnostic |
| B |
| Supports Positive |
| 3 |
| accepted |
EID7291Integrated genomic analysis was performed for 1,988 childhood and adult B-ALL cases. Forty four cases (2.2%) showed the P80R substitution in the DNA binding domain for the PAX5 transcription factor ge… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC |
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| (oncogenic) | B Acute Lymphoblastic Leukemia with PAX5 P80R MutationALIAS | Oncogenic | D | Supports Oncogenicity | 4 | submitted | EID11522To examine the effects of PAX5 P80R on B cell maturation, PAX5 WT, P80R, V26G, and P34Q were expressed in Pax5 depleted bone marrow cells. While PAX5 V26G and PAX5 P34Q could rescue B cell differentia… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC | civic |