Cancer Family
Hematopoietic and Lymphoid Cell Neoplasm
CI-CAN-00000023Explore in graph →
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Cancer Family
CI-CAN-00000023Explore in graph →
Variants & evidence
2,011 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 |
|---|---|---|---|---|---|---|---|---|
| HLF Fusion2 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF RearrangementALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID12170In this 2023 study the authors investigated the occurrence and spectrum of TCF3 gene rearrangements in 203 patients with B-cell precursor acute lymphoblastic leukemia (BCP-ALL), aged 0-18. The study u… (full text at CIViC) PMID 37058324 · Zerkalenkova et al., 2023 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF RearrangementALIAS | Diagnostic | C | Supports Positive | 4 | accepted | EID12171In this 2015 study the authors applied genome and RNA sequencing to analyze a cohort of five diagnostic pre-treatment samples from patients aged between 7 and 17 years, all diagnosed with TCF3::HLF po… (full text at CIViC) PMID 26214592 · Fischer et al., 2015 · Open in CIViC | civic |
| TCF3 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11827First described in Schmitz but has been observed in multiple other BL studies PMID 22885699 · Schmitz et al., 2012 · Open in CIViC | civic |
| PBX1 Fusion7 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Diagnostic | A | Supports Positive | 5 | accepted | EID11771The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours listed TCF3::PBX1 rearrangement in the essential diagnostic criteria for “B-lymphoblastic leukaemia/lymphoma … (full text at CIViC) PMID 35732829 · Alaggio et al., 2022 · Open in CIViC | civic |
| 〃 | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Diagnostic | B | Supports Positive | 4 | rejected | EID11715This is a large cohort study led by St Jude Children's Research Hospital with extensive genome-wide molecular profiles of 2754 children with acute lymphoblastic leukemia(ALL). Consistent with the prof… (full text at CIViC) PMID 36050548 · Brady et al., 2022 · Open in CIViC | civic |
| 〃 | ||||||||
| TEK R849W1 | ||||||||
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | submitted | EID7517In an in vitro kinase study, the recombinant TEK R849W mutant kinase demonstrated resistance to bosutinib treatment at concentrations of 1μM and 10μM (activity %: 77 and 35) when compared to wild type… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| JAK2 Fusion2 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 4 | submitted | EID7703In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. The TERF2-JAK2 fusionis rare. This study was cond… (full text at CIViC) PMID 27894077 · Boer et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7702In 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 | civic |
| TET2 Mutation7 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 4 | accepted | EID415In a cohort of 783 young adult patients with acute myeloid leukemia, those with TET2 mutations did not have significantly different rates of complete recovery, refractory disease, or hypoplastic death… (full text at CIViC) PMID 22430270 · Gaidzik et al., 2012 · Open in CIViC | civic |
| 〃 | Myelodysplastic SyndromeCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID417In patients with myelodysplastic syndromes, those with TET2 mutations have been shown to have better overall survival than patients without TET2 mutations. PMID 19666869 · Kosmider et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | ||||||
| TFAP4 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11826Mutations in this gene have been described in several genome-wide studies PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| BCL11B Fusion1 | ||||||||
| (diagnostic) | T Acute Lymphoblastic LeukemiaCURATED_BROADER | 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 |
| TMSB4X Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11998The authors analyzed 96 diffuse large B-cell lymphomas and identified several recurrently mutated genes PMID 28327945 · Albuquerque et al., 2017 · Open in CIViC | civic |
| TNFAIP3 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11991Focusing on ABC DLBCL, the authors showed that >50% of cases have somatic mutations in regulators of NF-KB with TNFAIP3 among the most common. PMID 19412164 · Compagno et al., 2009 · Open in CIViC | civic |
| TNFRSF14 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11909This 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 | civic |
| TNFRSF17 Gain1 | ||||||||
| (oncogenic) | Multiple Myeloma | Oncogenic | B | Supports Oncogenicity | 1 | submitted | EID9226Low coverage WGS and WES was performed on 752 multiple myleoma patients. Structural variants (copy number gains, templated insertions, and or translocations) of TNFRS17 were found in 19 (2.5%) patient… (full text at CIViC) PMID 33392515 · Rustad et al., 2020 · Open in CIViC | civic |
| PDGFRB Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Does Not Support Positive | 1 | submitted | EID11626B-ALL cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine Ph-like status. 1 patient (6 years old) with a TN… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| PDGFRA Fusion1 | ||||||||
| Imatinib | Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene FusionsALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1838A patient harbouring a novel TNKS2–PDGFRA fusion in a myeloid neoplasm with eosinophilia demonstrated a dramatic and durable response upon treatment with Imatinib mono therapy. PMID 25658984 · Chalmers et al., 2015 · Open in CIViC | civic |
| ABL1 Fusion1 | ||||||||
| (oncogenic) | T Acute Lymphoblastic LeukemiaCURATED_BROADER | 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 |
| TOP2A TOP2A/902 | ||||||||
| Etoposide | Leukemia | Predictive | D | Supports Resistance | 4 | submitted | EID9634In an in vitro study, leukemia cells expressing TOP2A/90 show increased inhibition (p < 0.025) upon KD of TOP2A/90 when treated with etoposide. Moreover cells expressing TOP2A/170 but not TOP2A/90 sho… (full text at CIViC) PMID 29514855 · Kanagasabai et al., 2018 · Open in CIViC | civic |
| 4'-(9-acridinylamino)methanesulfon-m-anisidide + DVP Regimen + Etoposide + MVT Regimen + PixantroneSubstitutes | Leukemia | Predictive | D | Supports Resistance | 4 | submitted | EID9635In an in vitro study, leukemia cells expressing TOP2A/90 show increased IC50 compared to leukemia cells underexpressing TOP2A/90 when treated with etoposide, daunorubicin, mAMSA, mitoxantrone and pixa… (full text at CIViC) PMID 33446509 · Hernandez et al., 2021 · Open in CIViC | civic |
| TOX Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11993This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC | civic |
| TP53 Deleterious Mutation1 | ||||||||
| RG7112 | Leukemia | Predictive | B | Supports Resistance | 3 | accepted | EID2966Phase I Trial of MDM2 inhibitor RG7112 in 116 patients with AML, ALL, CML, CLL, sCLL demonstrated sustained clinical improvement and induction of TP53 target genes in subset of patients with wild type… (full text at CIViC) PMID 26459177 · Andreeff et al., 2016 · Open in CIViC | civic |
| TP53 Mutation17 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | A | Supports Poor Outcome | 5 | accepted | EID1507In a cohort of 406 patients with CLL, those patients with clonal or sub-clonal mutations in TP53 had significantly shorter overall survival (HR: 1.71; 95% CI: 1.28-2.26; P = .0001). PMID 26837699 · Nadeu et al., 2016 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID1452The authors analyzed 328 patients with CLL, of which 28 were identified to have TP53 mutations. Patients with TP53 mutations were found to have significantly shorter progression-free (HR = 3.8; P < 0.… (full text at CIViC) PMID 20697090 · Zenz et al., 2010 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 5 | accepted | ||
Data updated 2 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.
| B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS |
| Diagnostic |
| B |
| Supports Positive |
| 4 |
| accepted |
EID11717This study from 1991 (before the advent of next-generation sequencing) aimed to decipher molecular basis and oncogenic mechanisms of the t(1;19)(q23;p13), which was already known at the time as a rec… (full text at CIViC) PMID 1671560 · Hunger et al., 1991 · Open in CIViC |
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| 〃 | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID11772From 1101 patients enrolled in 4 consecutive acute lymphoblastic leukemia clinical trials at St Jude Children's Research Hospital (1979-1994), 45 of them were identified to bear t(1;19)(q23;p13) or d… (full text at CIViC) PMID 7989935 · Pui et al., 1994 · Open in CIViC | civic |
| (oncogenic) | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Oncogenic | E | Supports Oncogenicity | 3 | accepted | EID11719In an earlier study of 15 patients with TCF3::PBX1 B-ALL, 2 of the 15 had neonatal blood spots found to be positive for the TCF3::PBX1 fusion breakpoint using polymerase chain reaction (PCR). In this … (full text at CIViC) PMID 31434706 · Hein et al., 2019 · Open in CIViC | civic |
| HyperCVAD Regimen | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11720While it is not common in adult acute lymphoblastic leukemia (ALL), the t(1;19)(q23;p13) rearrangement is still a hallmark for favorable prognosis in a retrospective cohort study with 427 adult patien… (full text at CIViC) PMID 32955970 · Yilmaz et al., 2021 · Open in CIViC | civic |
| NCT00137111 | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11718Clinical trials conducted at St Jude Children's Research Hospital revealed that patients with pre-B acute lymphoblastic leukemia who have the TCF3::PBX1 fusion exhibit a favorable overall outcome when… (full text at CIViC) PMID 19282835 · Jeha et al., 2009 · Open in CIViC | civic |
| B |
| Supports Better Outcome |
| 4 |
| accepted |
EID419In patients with cytogenetically normal acute myeloid leukemia, those in the intermediate-I risk group with TET2 mutations had higher rates of complete remission. PMID 22430270 · Gaidzik et al., 2012 · Open in CIViC |
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| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports N/A | 4 | accepted | EID421In patients with cytogenetically normal acute myeloid leukemia, those in the intermediate-I risk group with TET2 mutations did not have significantly different rates of event-free survival, complete r… (full text at CIViC) PMID 21343549 · Metzeler et al., 2011 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID426In patients classified as intermediate-risk via cytogenetics, TET2 mutations have been shown to be correlated with poor prognosis. PMID 21828143 · Chou et al., 2011 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID427In patients with cytogenetically normal acute myeloid leukemia, those in the ELN favorable-risk group with TET2 mutations had shorter event-free survival, lower rates of complete remission, and shorte… (full text at CIViC) PMID 21343549 · Metzeler et al., 2011 · Open in CIViC | civic |
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11992This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC | civic |
EID1485In a multivariate analysis of 774 CLL patients, TP53 aberrations were significantly correlated with shorter time to first treatment (HR=2.081; 95% CI=1.431-3.021). This finding was independent of IGHV… (full text at CIViC) PMID 24943832 · Baliakas et al., 2015 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID520In children with bone marrow relapsed B-cell precursor acute lymphoblastic leukemia, in multivariate analysis those with mutations in TP53 had worse event-free survival than patients without mutations… (full text at CIViC) PMID 22699455 · Krentz et al., 2013 · Open in CIViC | civic |
| 〃 | Myelodysplastic SyndromeCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID521In patients with myelodysplastic syndrome, in a multivariate analysis those with mutations in TP53 had shorter overall survival than wild-type patients. PMID 24836762 · Bally et al., 2014 · Open in CIViC | civic |
| 〃 | Myeloid Neoplasm | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID522In patients with myeloma, those with mutations in TP53 had worse overall survival than those without. PMID 17215851 · Chng et al., 2007 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID640In relapsed B-ALL patients, TP53 mutations were associated with morphologic nonresponse to therapy (>5% blasts in the bone marrow after 9 weeks of treatment) as well as reduced event free and overall … (full text at CIViC) PMID 21747090 · Hof et al., 2011 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1018In a study of 97 patients with AML treated with HSCT, 40 had TP53 mutations comprising a total of 44 mutations. Patients with a TP53 mutation had a reduced three year probability of overall survival … (full text at CIViC) PMID 26771088 · Middeke et al., 2016 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1451In a study of 126 patients with long-term follow-up, TP53 mutations were significantly associated with shorter median survival in patients (P = 0.002) from time of diagnosis. The median survival from … (full text at CIViC) PMID 18689542 · Zenz et al., 2008 · Open in CIViC | civic |
| 〃 | Myelodysplastic SyndromeCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID6943In a study of 439 patients with myelodysplastic syndrome, patients with TP53 mutations (N=33) has worse overall survival than wildtype patients (N=406) (P<0.001 univariate). This difference was also o… (full text at CIViC) PMID 21714648 · Bejar et al., 2011 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1450A study of 53 patients with B-CLL found a significant resistance to chemotherapy and corresponding poor clinical outcomes among the 7 treated patients with p53 mutations compared to the 29 treated pat… (full text at CIViC) PMID 8241511 · el Rouby et al., 1993 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1478In the CLL4 trial assessing first line treatment with chlorambucil or fludarabine with or without cyclophosphamide, patients with TP53 mutations experienced poorer overall response rates (27% vs 83%),… (full text at CIViC) PMID 21483000 · Gonzalez et al., 2011 · Open in CIViC | civic |
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | civic |
| (prognostic) | Mantle Cell Lymphoma | Prognostic | E | Supports Poor Outcome | 4 | submitted | EID11894This study confirmed clinical associations between TP53 and NOTCH1 with poor outcome. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11913This 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 | civic |
| 〃 | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11893Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL (including TP53). PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| Alemtuzumab | Chronic Lymphocytic Leukemia | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID1481Thirty-six patients with CLL were treated with alemtuzumab. Partial or complete response was achieved in 6 of 15 patients with p53 mutations, compared to 4 of 21 without. These findings are not statis… (full text at CIViC) PMID 14726385 · Lozanski et al., 2004 · Open in CIViC | civic |