Cancer
Neoplasm of Uncertain Histogenesis
CI-CAN-00000034Explore in graph →
Non-malignant20,272 active trials259 approved drugs3,813 evidence items
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Cancer
CI-CAN-00000034Explore in graph →
Variants & evidence
7,614 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 |
|---|---|---|---|---|---|---|---|---|
| NUTM2A Fusion + NUTM2B Fusion + NUTM2E FusionNUTM2ANUTM2BNUTM2E3 | ||||||||
| (diagnostic) | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11782In this 2012 study O’Meara et al. included 51 clear cell sarcoma of kidney (CCSK). Using an index CCSK with the t(10;17)(q22;p13) identified by cytogenetics, they were able to map the breakpoints and … (full text at CIViC) PMID 22294382 · O'Meara et al., 2012 · Open in CIViC | civic |
| 〃 | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | C | Supports Positive | 2 | accepted | EID11783In this 2020 study Kenny et al. included 68 cases of clear cell sarcoma of the kidney (CCSK). Using RT-PCR with RNA extracted from FFPE tumour tissue they detected a YWHAE::NUTM2 fusion transcript in… (full text at CIViC) PMID 32364435 · Kenny et al., 2020 · Open in CIViC | civic |
| 〃 | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | C | Supports Positive | 2 | accepted | EID11784In this 2016 study Kenny et al. included 159 cases of clear cell sarcoma of the kidney (CCSK). RNA was extracted from either snap-frozen or FFPE tumour tissue samples and real-time PCR used to identif… (full text at CIViC) PMID 27000436 · Kenny et al., 2016 · Open in CIViC | civic |
| FLT3 Fusion1 | ||||||||
| (diagnostic) | Myeloproliferative NeoplasmCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | submitted | EID13108A 64-year-old man presented with splenomegaly, peripheral eosinophilia, and bone marrow findings consistent with myeloproliferative neoplasm with eosinophilia. Cytogenetic analysis identified a balanc… (full text at CIViC) PMID 32866288 · Zhou et al., 2020 · Open in CIViC | civic |
| ABL2 Fusion9 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | B | Supports Positive | 2 | submitted | EID13064An adult patient (>18 years old) with B-ALL harbored an in-frame ZC3HAV1::ABL2 fusion, identified by targeted RNA sequencing, with no IKZF1 deletion, and presented with a white blood cell count of 72 … (full text at CIViC) PMID 33781217 · Norvilas et al., 2021 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | submitted | EID12962A 10-year-old female (Case #62) with B-ALL harbored a ZC3HAV1::ABL2 fusion and a PAX5 deletion. The fusion was identified by RNA sequencing and confirmed by RT-PCR and Sanger sequencing; breakpoints w… (full text at CIViC) PMID 27265895 · Lilljebjörn et al., 2016 · Open in CIViC | civic |
| (prognostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Prognostic | C | Supports | ||||
| ZEB1 Expression7 | ||||||||
| (prognostic) | Mantle Cell Lymphoma | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID12499In a tissue micro array from 46 cases histologically classified as MCL according to WHO criteria, 50% were positive for ZEB1 expression. ZEB1 expression correlated with beta catenin (Spearman correlat… (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID12501In a tissue micro array from 46 cases histologically classified as MCL according to WHO criteria, 50% were positive for ZEB1 expression. ZEB1 expression correlated with beta catenin (Spearman correlat… (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| Cytarabine + Doxorubicin + GemcitabineSubstitutes | Mantle Cell Lymphoma | Predictive | D | |||||
| ZEB1 Increased Expression1 | ||||||||
| Chemotherapy | Malignant NeoplasmALIAS | Predictive | E | Supports Resistance | 3 | submitted | EID12163ZEB1 is a key transcription factor that controls epithelial-to-mesenchymal transition (EMT) and may contribute to chemoresistance in cancer cells by enhancing DNA damage response (DDR) and repair mech… (full text at CIViC) PMID 32266287 · Drápela et al., 2020 · Open in CIViC | civic |
| ZEB1 Overexpression1 | ||||||||
| (prognostic) | Malignant Colon Neoplasm | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID8085In a cohort of 118 CC patients, ZEB1 had high expression in 66.9% and low expression in 33.1% of patients by IHC. Median OS was longer in the ZEB1 low expression group (14.0 months, 95% CI 11.63-14.97… (full text at CIViC) PMID 29151941 · Guo et al., 2017 · Open in CIViC | civic |
| PDGFRB e9::e91 | ||||||||
| (oncogenic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12480A male adolescent patient with study ID SJBALL267_D was reported by gene expression profile to have Ph-like non CRLF2 B-ALL. White blood count was 1.7. WGS and RNA-seq was performed. ZEB2::PDGFR joini… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| PDGFRB Fusion1 | ||||||||
| Dasatinib + ImatinibSubstitutes | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12481Xenograft models of 10 Ph-like ALL tumors including ZEB2-PDGFRB were generated from engrafting primary human leukemia cells into NOD-SCID IL2R gamma null mice. The authors state that the xenograft cel… (full text at CIViC) | civic |
| BZW1 Fusion + PDGFRB FusionPDGFRBBZW11 | ||||||||
| (oncogenic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12482A patient is reported with karyotype 46,XX,del(12)(p13)[6]/46,XX[19] to have Ph-like other ALL of B-ALL Lineage by expression profiling. Age at diagnosis was 16.674, termed Adolescent and Young Adult,… (full text at CIViC) PMID 36050548 · Brady et al., 2022 · Open in CIViC | civic |
| ZFP36L1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11997The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations. PMID 29713087 · Chapuy et al., 2018 · Open in CIViC | civic |
| MAML2 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | C | Supports Positive | 2 | accepted | EID11430In an analysis of 13 cases of supratentorial tumors with ZFTA rearrangements without RELA involvement, all were found to have DNA methylation profiles similar to ZFTA::RELA supratentorial ependymoma. … (full text at CIViC) PMID 34389065 · Tauziède-Espariat et al., 2021 · Open in CIViC | civic |
| NCOA1 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | C | Supports Positive | 2 | accepted | EID11428In an analysis of 13 cases of supratentorial glial tumors with ZFTA rearrangements without RELA involvement, all were found to have DNA methylation profiles similar to ZFTA::RELA supratentorial ependy… (full text at CIViC) PMID 34389065 · Tauziède-Espariat et al., 2021 · Open in CIViC | civic |
| NCOA2 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | C | Supports Positive | 2 | accepted | EID11429In an analysis of 13 cases of supratentorial glial tumors with ZFTA rearrangements without RELA involvement, all were found to have DNA methylation profiles similar to ZFTA::RELA supratentorial ependy… (full text at CIViC) PMID 34389065 · Tauziède-Espariat et al., 2021 · Open in CIViC | civic |
| RELA Fusion8 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | A | Supports Positive | 3 | accepted | EID8627Ependymoma RELA fusion-positive is a genetically defined ependymoma subtype accepted as a distinct entity in the 2016 WHO classification of CNS tumors. This variant accounts for the majority of suprat… (full text at CIViC) PMID 27157931 · Louis et al., 2016 · Open in CIViC | civic |
| (prognostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID8628Pajtler et al. generated genome-wide DNA methylation profiles for 500 ependymal tumors using the Illumina 450k methylation array. Tumors were classified into nine molecular subgroups of which 88 supra… (full text at CIViC) PMID 25965575 · Pajtler et al., 2015 · Open in CIViC | civic |
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | B | Supports | ||||
| ZHX2 Overexpression1 | ||||||||
| Sorafenib | Papillary Renal Cell Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID9114Efficacy of second-line sorafenib treatment (initially 12.5 mg/day, escalated to 25 mg/day) in a 82-year old male patient with type 2 papillary renal cell carcinoma was confirmed with a partial respon… (full text at CIViC) PMID 32743370 · Morinaga et al., 2019 · Open in CIViC | civic |
| BRAF Fusion1 | ||||||||
| Trametinib | Melanoma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1663Analysis of BRAF fusions in 20,573 tumors, across 12 distinct tumor types. BRAF fusions were identified in 55 (0.3%) patients and enriched in spitzoid melanoma, pilocytic astrocytomas, pancreatic acin… (full text at CIViC) PMID 26314551 · Ross et al., 2016 · Open in CIViC | civic |
| ABL1 Fusion11 | ||||||||
| (prognostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Prognostic | B | Supports Better Outcome | 4 | accepted | EID9149A multicenter, retrospective, cohort study that included 122 paediatric patients (aged 1-18 years) with newly diagnosed ABL-class fusion B-cell acute lymphocytic leukemia who had not received tyrosine… (full text at CIViC) PMID 33357483 · den Boer et al., 2021 · Open in CIViC | civic |
| (oncogenic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID12638In a multicentre retrospective cohort study of 122 paediatric patients (aged 1-18 years) with newly diagnosed ABL-class fusion (ABL1 fusion-positive, ABL2 fusion-positive, CSF1R fusion-positive, and P… (full text at CIViC) PMID 33357483 · den Boer et al., 2021 · Open in CIViC | civic |
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | |||||
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.
| 3 |
| submitted |
EID13063A male patient older than 10 years with B-ALL harbored a ZC3HAV1(exon 12)::ABL2(exon 3) fusion and a concomitant IKZF1 deletion, presenting with a white blood cell count >50 × 10⁹/L. He was enrolled o… (full text at CIViC) PMID 29507076 · Tran et al., 2018 · Open in CIViC |
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| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | submitted | EID11620B-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. 2 patients (ages 6.4 and 10.4 yea… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| (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 |
| Asciminib + BCR-ABL Inhibitor HS-10382Substitutes | B Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21ALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID12504ABL2-rearranged (ABL2r) acute lymphoblastic leukemia (ALL) is a high-risk subtype of Ph-like ALL, typically treated with intensive chemotherapy. The ZC3HAV1::ABL2 fusion is a rare mutation in ABL2r an… (full text at CIViC) PMID 40678005 · Lagonik et al., 2025 · 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 |
| Imatinib | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID9804An 18-year-old male with B-ALL presented with hyperleukocytosis (WBC 171×10⁹/L, 90% blasts). Conventional cytogenetics showed a normal male karyotype (46,XY), and FISH/PCR were negative for ETV6-RUNX1… (full text at CIViC) PMID 31723830 · Decool et al., 2019 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID12513A 27-year-old male (Patient #17, Table 1) with B-ALL harbored a ZC3HAV1(exon 12)::ABL2(exon 2) fusion, concurrent CD200-BTLA and IKZF1 (exons 2–7) deletions, and a gain of chromosome X, presenting wit… (full text at CIViC) PMID 31434701 · Tanasi et al., 2019 · Open in CIViC | civic |
| Supports Resistance |
| 2 |
| accepted |
EID899Downregulation of ZEB1 expression in mantle cell lymphoma cell lines and mouse xenografts led to enhanced sensitivity towards treatment with doxorubicin, cytarabin and gemcitabine. PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC |
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| Doxorubicin + SalinomycinCombination | Mantle Cell Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID900Downregulation of ZEB1 expression in mantle cell lymphoma cell lines and mouse xenografts led to enhanced sensitivity towards treatment with doxorubicin, cytarabin and gemcitabine. the combination of … (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| Oxaliplatin | Malignant Colon Neoplasm | Predictive | D | Supports Resistance | 4 | submitted | EID8086The oxaliplatin resistant HCT116/OXA cell line shows increased EMT phenotype, as well as cell invasion and migration ability compared to parental HCT116 cells. The EMT-associated transcription factor … (full text at CIViC) PMID 29151941 · Guo et al., 2017 · Open in CIViC | civic |
| Salinomycin | Mantle Cell Lymphoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12500In a tissue micro array from 46 cases histologically classified as MCL according to WHO criteria, 50% were positive for ZEB1 expression. ZEB1 expression correlated with beta catenin (Spearman correlat… (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| Vincristine | Mantle Cell Lymphoma | Predictive | D | Does Not Support Resistance | 2 | submitted | EID12502In ZEB1 positive MCL cell line Granta-519, cells were treated with control shRNA or shZEB1, and then incubated with varying concentrations of vincristine. No difference in cell viability was seen over… (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| 3 |
| accepted |
EID11432In 16 of 21 supratentorial ependymomas, oncogenic fusions between ZFTA (C11orf95) and RELA were identified by a variety of methods including WGS, RT-PCR, FISH, and RNAseq. ZFTA::RELA fusions were a… (full text at CIViC) PMID 24553141 · Parker et al., 2014 · Open in CIViC |
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| (prognostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Prognostic | B | Supports Poor Outcome | 3 | rejected | EID11439Pajtler et al. generated genome-wide DNA methylation profiles for 500 ependymal tumors using the Illumina 450k methylation array. Tumors were classified into nine molecular subgroups of which 88 supra… (full text at CIViC) PMID 25965575 · Pajtler et al., 2015 · Open in CIViC | civic |
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | B | Supports Positive | 3 | accepted | EID11440Pajtler et al. generated genome-wide DNA methylation profiles for 500 ependymal tumors using the Illumina 450k methylation array. Tumors were classified into nine molecular subgroups of which 88 supra… (full text at CIViC) PMID 25965575 · Pajtler et al., 2015 · Open in CIViC | civic |
| 〃 | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | B | Supports Positive | 3 | accepted | EID11448Paired-end RNA sequencing identified a fusion between C11orf95 (now known as ZFTA) and RELA in 14 of 19 supratentorial ependymomas. This fusion was not detectable in a series of other CNS tumors incl… (full text at CIViC) PMID 24562983 · Pietsch et al., 2014 · Open in CIViC | civic |
| (oncogenic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Oncogenic | D | Supports Oncogenicity | 4 | accepted | EID11441Fusions between ZFTA (C11orf95) and RELA are identified in 70% of supratentorial ependymomas. RELA is the principal effector of NF-KB signaling. The introduction of the fusion into neural stem cell… (full text at CIViC) PMID 24553141 · Parker et al., 2014 · Open in CIViC | civic |
| 〃 | Supratentorial Ependymoma ZFTA Fusion-Positive | Oncogenic | D | Supports Oncogenicity | 4 | accepted | EID11442Viral introduction of the ZFTA::RELA fusion into periventricular neural stem cells in mice was shown to induce tumors that recapitulate human supratentorial ependymoma. Introduction of wild type ZFT… (full text at CIViC) PMID 29949764 · Ozawa et al., 2018 · Open in CIViC | civic |
| Supports Positive |
| 2 |
| accepted |
EID9077This study included 1389 cases of high-risk pediatric B-ALL, of which 284 were identified by TaqMan Low Density Array to have a BCR-ABL1-like (Ph-like) gene expression signature. RT-PCR or RNAseq perf… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | accepted | EID9152Study comprised 574 children with newly diagnosed B-cell precursor acute lymphoblastic leukemia (BCP-ALL) and focused on B-other/BCR-ABL-like which were identified by hierarchical clustering of gene e… (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 | 2 | accepted | EID11619B-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. 3 of 4 patients (ages 2.2, 2.6, a… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| (oncogenic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12635A study of 204 children with B-cell precursor acute lymphoblastic leukemia from three Dutch trials (DCOG ALL-8, 9, 10) and two German trials (COALL 06-97, 07-03) included 73 cases of BCR-ABL1-like B-A… (full text at CIViC) | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID9151A 18-month-old female with B-cell acute lymphoblastic leukemia. Chromosome and FISH analysis using a BCR-ABL1 probe confirmed the involvement of ABL1 in a t(9;10)(q34;q22.3) translocation. Follow-up m… (full text at CIViC) PMID 18007576 · Soler et al., 2008 · Open in CIViC | civic |
| 〃 | Malignant NeoplasmALIAS | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID11117BA/F3 cells transfected with ZMIZ1-ABL1 fusion were able to proliferate in the absence of IL3 by multiple orders of magnitude over 8 days, while cells transduced with empty vector failed to proliferat… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Dasatinib | Malignant NeoplasmALIAS | Predictive | D | Supports Sensitivity Response | 3 | rejected | EID11118IL3 indépendant Ba/F3 cells transduced with ZMIZ1-ABL1 driver fusion were treated with dasatinib. ZMIZ1-ABL1 cells had IC50 of 1-2 nM, whereas cells transduced with the driver PAX5-JAK2 were not respo… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Azacitidine + DasatinibCombination | Chronic Myelomonocytic Leukemia | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID12636A 60-year-old presented with bloating and shortness of breath. Records showed leukocytosis (white blood cell count of 12 × 109/L) with enlarged spleen. WBC was 16.43 × 10^9/L. abdominal ultrasound sho… (full text at CIViC) PMID 36694063 · Liu et al., 2023 · Open in CIViC | civic |
| Chemotherapy + DasatinibCombination | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID11119An 11 year old female (46,XX) had B-ALL. The patient received a 4-drug induction and end induction day 29 MRD was 5.4%. LDA card was used to analyze the patient and the leukemia was determined to be P… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |