Hematologic Malignancy
T Acute Lymphoblastic Leukemia
CI-CAN-00004056T-ALLExplore in graph →
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Hematologic Malignancy
CI-CAN-00004056T-ALLExplore in graph →
Variants & evidence
28 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|
| PDGFRB e10::e112 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 4 | submitted | EID13004In frame AGGF1:PDGFRb (exons 1-10 and exons 11-23) containing the PDGFRb tyrosine kinase domain, with no additional mutations, was observed in a 4 year old patient with T-ALL, found by RNAseq and conf… (full text at CIViC) PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC | civic |
| Dasatinib | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID13003A 4 yr old boy presented with a history of 1 week with fatigue, weakness, fever and vomiting. Physical examination showed prominent hepatosplenomegaly and white blood cell count of 622.8x109/L with … (full text at CIViC) PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC | civic |
| PDGFRB Fusion2 | |||||||
| Erlotinib + Gefitinib + Ibrutinib + VandetanibSubstitutes | Predictive | D | Does Not Support Sensitivity Response | 3 | submitted | EID13006Ba/F3 cells with AGGF1:PDGFRb showed IL3 independent growth. Patient derived cells and Ba/F3, both with AGGF1:PDGFRb, were treated with erlotinib, gefitinib, ibrutinib, and vandetanib. IC50 for inhibi… (full text at CIViC) PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC | civic |
| Crenolanib + Dasatinib + Imatinib + Nilotinib + Ponatinib + Sorafenib + SunitinibSubstitutes | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID13005Primary mononuclear cells from a 4 year old patient with AGGF1:PDGFRb were treated with PDGFRb inhibitors, which resulted in cell death. IC50 for reduction in cell viability were approximately Ponatin… (full text at CIViC) PMID 29284681 · Zabriskie et al., 2018 · Open in CIViC | |
| DNMT3A Mutation1 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID469In adult patients with early (n = 30), cortical (n = 30), mature (n = 3) or unknown (n = 8) T-cell acute lymphoblastic leukemia, those with mutations in DNMT3A (n=12) had shorter overall survival than… (full text at CIViC) PMID 23341344 · Grossmann et al., 2013 · Open in CIViC | civic |
| FBXW7 R465H1 | |||||||
| (predisposing) | Predisposing | D | Supports Predisposition | 4 | submitted | EID7174In mouse models, constitutive NOTCH signaling contributes to the genesis of breast cancer, medulloblastoma, and T cell leukemia, whereas in human cancer its role is best exemplified by T cell acute ly… (full text at CIViC) PMID 17646409 · O'Neil et al., 2007 · Open in CIViC | civic |
| IL7R exon 6 mutations1 | |||||||
| (diagnostic) | Diagnostic | C | Supports Positive | 4 | submitted | EID6228Activating 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 | civic |
| JAK3 M511I1 | |||||||
| Tofacitinib | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID2977Mice 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 | civic |
| NOTCH1 F1592C1 | |||||||
| Prednisone | Predictive | C | Supports Sensitivity Response | — | submitted | EID2852In 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 | civic |
| NOTCH1 F1592S1 | |||||||
| Prednisone | Predictive | C | Supports Sensitivity Response | — | submitted | EID2821In 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 | civic |
| NOTCH1 L1574P1 | |||||||
| Prednisone | Predictive | C | Supports Sensitivity Response | — | submitted | EID2691In 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 | civic |
| NOTCH1 L1574Q1 | |||||||
| Prednisone | Predictive | C | Supports Sensitivity Response | — | submitted | EID2826In 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 | civic |
| NOTCH1 L1585R1 | |||||||
| Prednisone | Predictive | C | Supports Sensitivity Response | — | submitted | EID2823In 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 | civic |
| NOTCH1 L1600P1 | |||||||
| Prednisone | Predictive | C | Supports Sensitivity Response | — | submitted | EID2690In 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 | civic |
| NOTCH1 L1600Q1 | |||||||
| Prednisone | Predictive | C | Supports Sensitivity Response | — | submitted | EID2822In 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 | civic |
| NOTCH1 Mutation2 | |||||||
| Prednisone | Predictive | C | Supports Sensitivity Response | — | submitted | EID2692In 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 | civic |
| 〃 | Predictive | C | Supports Sensitivity Response | — | submitted | EID2693In 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 | civic |
| NOTCH1 V1577A1 | |||||||
| Prednisone | Predictive | C | Supports Sensitivity Response | — | submitted | EID2824In 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 | civic |
| NOTCH1 V1577E1 | |||||||
| Prednisone | Predictive | C | Supports Sensitivity Response | — | submitted | EID2825In 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 | civic |
| NT5C2 D407A2 | |||||||
| Mercaptopurine + ThioguanineSubstitutes | Predictive | D | Supports Resistance | 4 | accepted | EID632CCRF-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 | civic |
| Arabinosylguanine + NelarabineSubstitutes | Predictive | D | Does Not Support Resistance | 4 | accepted | EID635CCRF-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 | civic |
| NT5C2 K359Q2 | |||||||
| Arabinosylguanine + NelarabineSubstitutes | Predictive | D | Does Not Support Resistance | 4 | accepted | EID636CCRF-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 | civic |
| Mercaptopurine + ThioguanineSubstitutes | Predictive | D | Supports Resistance | 4 | accepted | EID631CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 K359Q 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 | civic |
| NT5C2 R367Q3 | |||||||
| Mercaptopurine + ThioguanineSubstitutes | Predictive | D | Supports Resistance | 4 | accepted | EID630CCRF-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 · Tzoneva et al., 2013 · Open in CIViC | civic |
| Arabinosylguanine + NelarabineSubstitutes | Predictive | C | Supports Sensitivity Response | 4 | rejected | EID634CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (R367Q, R359Q 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 | civic |
| 〃 | Predictive | D | Does Not Support Resistance | ||||
| BCL11B Fusion1 | |||||||
| (diagnostic) | Diagnostic | C | Supports Positive | 3 | submitted | EID8564TLX3, also known as HOX11L2 is a homeobox gene, located on the long arm of chromosome 5. TLX3 is not expressed in normal T-cell development. In this paper, the authors described a "new" cryptic transl… (full text at CIViC) PMID 11587205 · Bernard et al., 2001 · Open in CIViC | civic |
| ABL1 Fusion1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 3 | submitted | EID13210This retrospective study of COG ALL cases from a 5 year period identified 10 of 40 T-ALL cases with an ABL1 rearrangement. One 3 year old patient had a novel complex rearrangement between TNRC6B and A… (full text at CIViC) PMID 30803551 · Papenhausen et al., 2019 · 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.
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EID633CCRF-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 |
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