Hematologic Malignancy
Lymphoid Neoplasm
CI-CAN-00009335Explore in graph →
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Hematologic Malignancy
CI-CAN-00009335Explore in graph →
Variants & evidence
638 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 |
|---|---|---|---|---|---|---|---|---|
| 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 |
| 〃 | 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 | civic |
| 〃 | 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 |
| 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 Mutation1 | ||||||||
| (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 |
| 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 |
| 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 |
| 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 Mutation6 | ||||||||
| (prognostic) | 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 |
| 〃 | 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 |
| (oncogenic) | Burkitt Lymphoma | Oncogenic | ||||||
| TP53 V143A1 | ||||||||
| (diagnostic) | Lymphoplasmacytic Lymphoma | Diagnostic | C | Supports N/A | 2 | submitted | EID2891A 73 y.o. male with Waldenström's Macroglobulinemia, a rare type of non-Hodgkin's lymphoma, donated bone marrow upon cancer recurrence to establish the cell line MWCL1. The bone marrow was initially … (full text at CIViC) PMID 21415268 · Hodge et al., 2011 · Open in CIViC | civic |
| JAK2 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7675In 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 |
| TYK2 S431G1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-LikeALIAS | Diagnostic | B | Supports Positive | 4 | rejected | EID12804In this 2020 study, the authors analyzed bone marrow samples from 62 B-ALL patients at diagnosis using next-generation sequencing (NGS) to search for disease-associated TYK2 gene variants. The patient… (full text at CIViC) PMID 33260630 · Turrubiartes-Martínez et al., 2020 · Open in CIViC | civic |
| UBE2A Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11994This 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 |
| UBR5 Mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11897Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including UBR5. This gene has also been reported… (full text at CIViC) PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| JAK2 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7705In 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 USP25-JAK2 fusion is rare; this study involve… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
| USP7 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11824Described in multiple genome-wide studies of BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| ABL1 Fusion1 | ||||||||
| (oncogenic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | A | Supports Oncogenicity | 4 | submitted | EID6936The study showed association of the ABL1 fusions with partner genes other than BCR with a specific molecular/genetic subtype of B-lymphoblastic leukemia characterized by the expression signature simil… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| ABL2 Fusion2 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | A | Supports Positive | 3 | submitted | EID6963The study showed that in B-ALL the the presence of ABL2 fusions with different partner genes is diagnostic for the so-called BCR-ABL1-like (or Philadelphia (Ph)-like) molecular subtype of B-ALL. Ph-l… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Imatinib | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID7250The RCSD1-ABL2 fusion was identified in a 5 yo boy with Ph-like B-ALL and Klinefelter syndrome. Following standard induction therapy the patient had an MRD of 1.2% in bone marrow, and continued to be … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| ALK Fusion8 | ||||||||
| Ceritinib | Anaplastic Large Cell Lymphoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID7546In a phase I study of the efficacy of ceritinib in ALK fusion positive cancer, a single patient with anaplastic large cell lymphoma was treated with 750mg daily ceritinb and had a partial response. Du… (full text at CIViC) PMID 24670165 · Shaw et al., 2014 · Open in CIViC | civic |
| Crizotinib | Anaplastic Large Cell Lymphoma | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID11218This trial enrolled 26 patients with anaplastic large cell lymphoma (ALCL). The groups received twice daily crizotinib at doses of either 165 or 280 mg/m2. 83% of the 165 mg/m2 ALCL patients had a com… (full text at CIViC) PMID 28787259 · Mossé et al., 2017 · Open in CIViC | civic |
| 〃 | Anaplastic Large Cell Lymphoma | Predictive | B | Supports Sensitivity Response | ||||
| IRF4 Fusion3 | ||||||||
| (diagnostic) | Large B-Cell Lymphoma with IRF4 Rearrangement | Diagnostic | B | Supports Positive | 4 | accepted | EID12253In this 2011 study the authors screened B-cell lymphomas for a FISH pattern indicating an IGH break but lacking known common partners. After identifying the t(6;14)(p25;q32) with long distance inverse… (full text at CIViC) PMID 21487109 · Salaverria et al., 2011 · Open in CIViC | civic |
| 〃 | Large B-Cell Lymphoma with IRF4 Rearrangement | Diagnostic | B | Supports Positive | 4 | accepted | EID12255In this 2020 study the authors included twenty cases classified as IRF4 positive Large B-cell lymphomas (LBCL-IRF4). The patients were aged from 5 to 22 years (median of 14 years). All cases showed po… (full text at CIViC) PMID 31738823 · Ramis-Zaldivar et al., 2020 · Open in CIViC | civic |
| 〃 | Large B-Cell Lymphoma with IRF4 Rearrangement | Diagnostic | B | Supports | ||||
| JAK2 Fusion3 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | A | Supports Positive | 3 | accepted | EID6964In this study, 264 of 1725 precursor B-lymphoblastic leukemia (B-ALL) cases were identified as BCR::ABL1 (Ph)-like based on the expression signature similar to the BCR::ABL1 positive B-ALL; of those 2… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | A | Supports Positive | 3 | accepted | EID12287In this study, the authors characterized 77 pediatric Ph-like B-ALL cases from the Dutch Childhood Oncology Group trials and German Cooperative ALL trials, and identified 5 cases with activated JAK si… (full text at CIViC) PMID 27894077 · Boer et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | B | |||||
| LYN Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID12801In this 2017 study, the authors characterized 284 cases of Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) identified from a cohort of 1,389 pediatric patients with high-risk B… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
Data updated 22 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.
| E |
| Supports Oncogenicity |
| 4 |
| submitted |
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| (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 |
| 3 |
| accepted |
EID7361In this phase I/II study, 26 patients with relapsed/refractory ALK-positive ALCL were administered crizotinib orally twice daily in 28-day cycles as a single agent for an indefinite duration. Patients… (full text at CIViC) PMID 28787259 · Mossé et al., 2017 · Open in CIViC |
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| 〃 | Anaplastic Large Cell Lymphoma | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID1140417 patients with ALK-positive advanced anaplastic large‐cell lymphoma (ALCL) enrolled in the PROFILE 1013 (NCT01121588) phase 1b single-arm, open-label, multi-centre study received crizotinib. ORR was… (full text at CIViC) PMID 29352732 · Gambacorti-Passerini et al., 2018 · Open in CIViC | civic |
| 〃 | Anaplastic Large Cell Lymphoma | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID1240Crizotinib at 250mg daily was given to two patients with relapsed ALK-rearranged anaplastic large cell lymphoma (ALCL). Patient one, 26 yrs old, had been treated with the CHOP-15 chemotherapy regimen,… (full text at CIViC) PMID 21345110 · Gambacorti-Passerini et al., 2011 · Open in CIViC | civic |
| 〃 | Anaplastic Large Cell Lymphoma | Predictive | C | Supports Sensitivity Response | 3 | rejected | EID1242Four adult ALK-rearranged anaplastic large cell lymphoma (ALCL) patients were resistant to chemotherapy after 3 or more lines of treatment. The patients were administered 250 mg crizotinib twice dail… (full text at CIViC) PMID 23006951 · Foyil et al., 2012 · Open in CIViC | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID1264A 27 year old female patient with advanced-stage IV, CD20 negative diffuse large B cell lymphoma (DLBCL). ALK rearrangement was determined by FISH, but the ALK fusion partner was not determined due to… (full text at CIViC) PMID 24330038 · Wass et al., 2014 · Open in CIViC | civic |
| 〃 | Anaplastic Large Cell Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID7144Authors report the ALK inactivation in ALK-positive ALCL induces an increase in BCL2 levels, which could contribute to therapeutic failures of current ALK targeted therapies. Their data strongly sugge… (full text at CIViC) PMID 30679328 · Torossian et al., 2019 · Open in CIViC | civic |
| 3 |
| accepted |
EID12254In this 2020 study the authors included FFPE tumour tissue of patients <18 years of age with morphological follicular lymphoma (FL) and/or diffuse large B-cell lymphoma (DLBCL). FISH studies with IRF4… (full text at CIViC) PMID 32239695 · Au-Yeung et al., 2020 · Open in CIViC |
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| 4 |
| accepted |
EID12256JAK2 rerrangements were found to be one of genetic aberrations demonstrated in 15 cases of Ph-like ALL that were characterised using transcriptome and whole genome sequencing. As these are genetic alt… (full text at CIViC) PMID 22897847 · Roberts et al., 2012 · Open in CIViC |
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