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    TEST:
    FoundationOne® Heme CDx

    Company:
    Roche
    Type:
    Laboratory Developed Test
    Related tests:
    12d
    KMT2A (MLL1) Rearrangements in Hematolymphoid Malignancies: A Genomic Landscape Study (ASH 2024)
    Rearrangements in the KMT2A gene in AML are common and may emerge as a new target of therapy for AML patients. This genomic landscape study reveals significant differences in import GA associated with AML in KMT2Ara and KMT2Anra cases.
    Tumor mutational burden
    |
    KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • TET2 (Tet Methylcytosine Dioxygenase 2) • WT1 (WT1 Transcription Factor)
    |
    KRAS G12C • KMT2A rearrangement • KRAS G12 • MLL rearrangement • MLL rearrangement • MLL mutation
    |
    FoundationOne® Heme CDx
    12d
    IDH2 Mutation Is Associated with Favorable Outcome Among Older Adults with Newly Diagnosed Acute Myeloid Leukemia Treated with Lower-Intensity Therapy (ASH 2024)
    Among the LIT treated patients, 96 patients received treatment with an IDH inhibitor, and 237 patients received a hypomethylating agent (HMA) plus venetoclax... A total of 1023 patients with ND AML were identified. Patients had a median age of 72 (range 60-92) years and the majority were non-Hispanic White (83.2%), and male (57.6%). Ninety-nine (9.7%) patients were IDH1MUT, 193 (18.9%) patients were IDH2MUT including 10 (1.0%) patients with a co-occurring IDH1 and IDH2 gene mutations.
    Clinical
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • SRSF2 (Serine and arginine rich splicing factor 2)
    |
    IDH2 mutation • NPM1 mutation
    |
    FoundationOne® Heme CDx
    |
    Venclexta (venetoclax)
    12d
    Comprehensive Genomic Profiling (CGP) of Acute Lymphoblastic Leukemias with Foundation One Heme Identifies Actionable Genomic Alterations and Biomarkers (ASH 2024)
    This analysis of 2,637 samples comprising a variety of molecular subtypes of ALL demonstrated that the F1H assay detects pathogenic genomic alterations with diagnostic, prognostic, and therapeutic significance. As both the treatment landscape and disease classification system in ALL have continued to evolve over time, CGP assays such as F1H can play a critical role in clinical decision making by simultaneously assessing the presence and absence of numerous actionable genomic alterations and biomarkers with a single assay.
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • CRLF2 (Cytokine Receptor Like Factor 2) • IKZF1 (IKAROS Family Zinc Finger 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • PAX5 (Paired Box 5) • TCF3 (Transcription Factor 3) • P2RY8 (P2Y Receptor Family Member 8) • PBX1 (PBX Homeobox 1) • ABL2 (ABL Proto-Oncogene 2, Non-Receptor Tyrosine Kinase)
    |
    TP53 mutation • KRAS mutation • NRAS mutation • PTEN mutation • CDKN2A deletion
    |
    FoundationOne® Heme CDx
    2ms
    Foundation Medicine awarded contract by the U.S. Department of Veterans Affairs to provide tumor molecular profiling to Veterans with cancer (Foundation Medicine Press Release)
    "Foundation Medicine, Inc...announced it was awarded its second consecutive, five-year contract by the U.S. Department of Veterans Affairs (VA) to provide tumor molecular profiling tests and services to eligible Veterans living with cancer as part of the VA’s National Precision Oncology Program. The national contract covers Foundation Medicine’s tissue-based test FoundationOne®CDx, liquid-based test FoundationOne®Liquid CDx, tissue-based RNA sequencing test FoundationOne®RNA and FoundationOne®Heme for hematologic malignancies."
    Clinical
    |
    FoundationOne® CDx • FoundationOne® Liquid CDx • FoundationOne® Heme CDx • FoundationOne®RNA
    3ms
    Foundation Medicine Partners with Syndax to Develop a Companion Diagnostic in Hematology and Support Efforts to Pursue Regulatory Approval for an Assay Based on the FoundationOne Heme Platform (Businesswire)
    "Foundation Medicine, Inc. today announced a collaboration with Syndax Pharmaceuticals...to develop a companion diagnostic for the identification of acute myeloid leukemia (AML) patients harboring an NPM1 mutation. As part of the collaboration, Syndax will also support Foundation Medicine’s efforts to pursue regulatory approval of an assay based on the FoundationOne Heme platform....If approved, the assay could be the first next-generation sequencing companion diagnostic to detect genomic alterations in hematologic neoplasms, including enhancing the identification of patients with NPM1 mutations who may be eligible for revumenib."
    Licensing / partnership
    |
    FoundationOne® Heme CDx
    |
    Revuforj (revumenib)
    3ms
    Frequency of Practice-Changing Findings Identified by Comprehensive Genomic Profiling in Non-Myeloid Hematologic Malignancies (SOHO 2024)
    CGP of non-myeloid hematologic malignancies identified variants of clinical significance in 72% of patients and led to changes in practice in 22% of patients. CGP was often sent late in the clinical course.
    FoundationOne® Heme CDx
    4ms
    Gene rearrangements, actionability and access to precision medicine: Results from the ARCAGEN study (ESMO 2024)
    Rearrangements in rare cancers have at least, a similar rate as in common cancers and can be targeted. However, despite identification of the alterations, treatment access remains limited.
    EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • FGFR2 (Fibroblast growth factor receptor 2) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    FGFR2 fusion • ALK fusion
    |
    FoundationOne® CDx • FoundationOne® Liquid CDx • FoundationOne® Heme CDx
    4ms
    COTESARC: MEK Inhibitor and a PDL1 Inhibitor Patients With Locally Advanced and/or Metastatic Soft Tissue Sarcoma (clinicaltrials.gov)
    P1/2 | N=320 | Active, not recruiting | Sponsor: Centre Leon Berard | Recruiting ➔ Active, not recruiting
    Enrollment closed
    |
    TMB (Tumor Mutational Burden)
    |
    FoundationOne® Heme CDx
    |
    Tecentriq (atezolizumab) • Cotellic (cobimetinib)
    5ms
    Prevalence of Potentially Pathogenic Germline Variants Among Adult Patients in the Philippines With Solid Malignancies Who Underwent Tumor Genomic Profiling. (PubMed, JCO Glob Oncol)
    With a PPGV prevalence of 11% in this study, it is important to recognize PPGVs as it can prompt genetic counseling and confirmatory germline testing.
    Journal • BRCA Biomarker
    |
    EGFR (Epidermal growth factor receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)
    |
    FoundationOne® Heme CDx
    6ms
    EBV Detection Among Solid Tumors by Next-generation Sequencing (EACR 2024)
    Our data demonstrate that CGP is a promising tool for detecting EBV together with genomic alterations in tumor specimens. Our approach could help reduce the complexity of biomarker testing, providing comprehensive results as part of a single sequencing reaction.
    Next-generation sequencing
    |
    FoundationOne® CDx • FoundationOne® Heme CDx
    6ms
    LLS 2024 ELN-REFINED RISK STRATIFICATION IN OLDER ADULTS WITH NEWLY DIAGNOSED ACUTE MYELOID LEUKEMIA TREATED WITH LOW-INTENSITY THERAPY (EHA 2024)
    Among patients ≥60 yrs with ND AML given LIT, the current 2022 ELN risk system classifies most (79%)patients as adverse risk and does not reliably distinguish favorable from intermediate-risk, highlighting thelimitations of the model in this patient population. We propose a refined LLS classification using a "mutationscore" incorporating IDH2, MLL2, KRAS and TP53 mutations for those previously assigned ELN 2022 adverserisk, as well as redefining the definition of LLS-favorable risk.
    Clinical
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • KMT2D (Lysine Methyltransferase 2D) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2)
    |
    TP53 mutation • KRAS mutation • FLT3-ITD mutation • IDH2 mutation • FLT3 mutation • KMT2D mutation • TP53 mutation + KRAS mutation • MLL2 mutation • KRAS mutation + TP53 mutation
    |
    FoundationOne® Heme CDx • LeukoStrat® CDx FLT3 Mutation Assay
    7ms
    Incorporating precision oncology in everyday clinical practice: First two years of comprehensive genomic profiling (CGP) testing experience in Croatia. (ASCO 2024)
    Our results have shown that almost 50% of tested patients could have potential treatment benefit based on the detection of clinically relevant genomic alteration. Unfortunately, taking into consideration country level insurance eligibility criteria for CGP testing and number of potentially eligible cancer patients, we could say that only less than 5% of patients with metastatic disease were tested within first two years and that penetration of CGP is rather low, resulting with a significant number of patients underserved.
    Clinical
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog)
    |
    FoundationOne® CDx • FoundationOne® Liquid CDx • FoundationOne® Heme CDx
    7ms
    AlphaMissense performance as a classifier of germline and somatic variants of unknown significance in high-grade sarcoma. (ASCO 2024)
    In conclusion, the AM classifier dichotomises VUS to either benign or pathogenic, but this is not based on either structural or functional predictions directly. We conclude that it should not be currently used in the analysis of clinical samples seeking actionable variants but could instead stratify potential pathogenic variants for functional investigation.
    FoundationOne® Heme CDx
    8ms
    EXALT-2: Comprehensive Genomic Profiling and Next Generation Functional Drug Screening for Patients With Aggressive Haematological Malignancies (clinicaltrials.gov)
    P=N/A; Trial completion date: Dec 2024 --> Mar 2026 | Trial primary completion date: Dec 2024 --> Mar 2026
    Trial completion date • Trial primary completion date
    |
    FoundationOne® Heme CDx
    9ms
    Prevalence and implications of potentially pathogenic germline variants among adult patients in the Philippines with solid malignancies who underwent tumor genomic profiling: A multi-institutional, cross-sectional study (AACR 2024)
    The presence of PPGVs warrants formal genetic counselling and germline testing. Given the similar prevalence of PPGVs in this study compared with data from other countries, and the diagnostic and therapeutic implications of detecting incidental PPGVs, we underscore the need for cancer genetics to be incorporated into standard oncologic care in the Philippines.
    Observational data • Clinical • BRCA Biomarker
    |
    EGFR (Epidermal growth factor receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)
    |
    FoundationOne® Heme CDx
    9ms
    CDK4/MDM2 Amplification Is a Rare Targetable Genomic Event in TP53/RB1-Wildtype Uterine Leiomyosarcoma (USCAP 2024)
    Overall, in our uLMS analysis, CDK4 and/or MDM2 amplification was identified in a small subset (2%) of uLMS, the majority of which are TP53/RB1-wildtype. This may suggest that CDK4/MDM2 amplification can be an alternative tumorigenic mechanism in this distinct class of uLMS, which may have therapeutic clinical implications, including possible use of specific cyclin-dependent kinase inhibitors.
    Tumor mutational burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • MDM2 amplification • CDK4 amplification • MDM2 amplification + CDK4 amplification • RB1 wild-type • CDK4 mutation
    |
    FoundationOne® Heme CDx
    9ms
    Fumarate-Deficient Uterine Leiomyosarcoma: Molecular Confirmation of Four Cases (USCAP 2024)
    While exceedingly rarely, FH mutations may be found in uLMS. Confirmation of FH deficiency should not preclude the diagnosis of sarcoma in smooth muscle neoplasms that meet histologic criteria for malignancy.
    Clinical
    |
    TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • ATRX (ATRX Chromatin Remodeler) • FH (Fumarate Hydratase)
    |
    TP53 mutation • MET mutation • RB1 deletion • ATRX mutation • RB deletion
    |
    FoundationOne® Heme CDx
    9ms
    CDK4/MDM2 Amplification Is a Rare Targetable Genomic Event in TP53/RB1-Wildtype Uterine Leiomyosarcoma (USCAP 2024)
    Overall, in our uLMS analysis, CDK4 and/or MDM2 amplification was identified in a small subset (2%) of uLMS, the majority of which are TP53/RB1-wildtype. This may suggest that CDK4/MDM2 amplification can be an alternative tumorigenic mechanism in this distinct class of uLMS, which may have therapeutic clinical implications, including possible use of specific cyclin-dependent kinase inhibitors.
    Tumor mutational burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • MDM2 amplification • CDK4 amplification • MDM2 amplification + CDK4 amplification • RB1 wild-type • CDK4 mutation
    |
    FoundationOne® Heme CDx
    11ms
    Advancing hospital-based health technology assessment: evaluating genomic panel contracting strategies for blood tumors through a multimethodology. (PubMed, Int J Technol Assess Health Care)
    The proposed multimethodology provided IPO Lisboa decision makers with comprehensive and insightful information regarding each strategy's value-for-money, enabling an informed discussion on whether to move from the current Strategy S1 to other competing strategies.
    Journal
    |
    FoundationOne® Heme CDx
    12ms
    Disparities in Genetic Profiles, Risk Stratification and Outcomes in Adults with Acute Myeloid Leukemia Comparing Patients of Hispanic and Non-Hispanic Ethnicity in Central California (ASH 2023)
    Our study identified biologic differences between Hispanic and non-Hispanic AML patients with heterogeneity in genetic mutations. While Hispanic patients had lower income, they were younger at diagnosis and more likely to have favorable risk AML. Hispanic patients had better PFS and a trend towards improvement in OS.
    Clinical
    |
    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • KMT2C (Lysine Methyltransferase 2C) • STAG2 (Stromal Antigen 2)
    |
    TP53 mutation • FLT3-ITD mutation • NPM1 mutation • DNMT3A mutation
    |
    FoundationOne® Heme CDx
    12ms
    ASTX660-01 Phase 2: A Case Study of Tolinapant-Induced Pseudoprogression in CTCL (ASH 2023)
    Our data offer a cellular and molecular insight into a case of clinical pseudoprogression observed during tolinapant treatment. Understanding pseudoprogression is important for clinical investigators and patients to ensure treatment with tolinapant, or other IAP antagonists, are not discontinued prematurely.
    P2 data • Clinical
    |
    CD8 (cluster of differentiation 8) • CXCL10 (Chemokine (C-X-C motif) ligand 10) • CD4 (CD4 Molecule) • CD7 (CD7 Molecule) • GZMA (Granzyme A) • XIAP (X-Linked Inhibitor Of Apoptosis) • CXCR3 (C-X-C Motif Chemokine Receptor 3) • GZMH (Granzyme H) • PRF1 (Perforin 1) • CXCL1 (Chemokine (C-X-C motif) ligand 1) • DPP4 (Dipeptidyl Peptidase 4)
    |
    FoundationOne® Heme CDx • nCounter® PanCancer IO 360™ Panel
    |
    tolinapant (ASTX660)
    1year
    Genomic Characterization of Newly Diagnosed Acute Myeloid Leukemia in Patients Age 60 Years and Older; A Report from the Beat AML Master Trial (ASH 2023)
    Blue indicates positive correlation, red indicated negative correlation. Only significant correlations (p<0.01) are shown.
    Clinical
    |
    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SRSF2 (Serine and arginine rich splicing factor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2)
    |
    TP53 mutation • FLT3-ITD mutation • IDH1 mutation • IDH2 mutation • FLT3 mutation • NPM1 mutation • DNMT3A mutation • ASXL1 mutation • TET2 mutation • SF3B1 mutation • SRSF2 mutation • U2AF1 mutation • STAG2 mutation
    |
    FoundationOne® Heme CDx • LeukoStrat® CDx FLT3 Mutation Assay
    1year
    CD36 Mutations in hematopoietic neoplasms. A single center cohort of 1599 bone marrow samples (AMP 2023)
    CD36 mutations were frequent in AML and MDS in our series, which might have implications in pathogenesis of myeloid neoplasm. Certain mutations (e.g., splice site) might have association with lymphoid malignancies.
    Clinical
    |
    CD36 (thrombospondin receptor)
    |
    FoundationOne® Heme CDx
    1year
    Landscape of BCL11B mutations in Human Cancer (AMP 2023)
    Our report represents one of the most extensive and detailed studies regarding the landscape of BCL11B point and indel mutations in human cancer. BCL11B alterations occur widely in mature, immature, B-cell, Tcell, and sarcomatous malignancies. TP53, PIM1, and SOCS1 are the most commonly co-mutated genes.
    TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • PIM1 (Pim-1 Proto-Oncogene) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • SOCS1 (Suppressor Of Cytokine Signaling 1) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B) • MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor)
    |
    PIM1 mutation • BCL11B mutation
    |
    FoundationOne® Heme CDx
    1year
    A pan-sarcoma landscape of telomeric content shows that alterations in RAD51B and GID4 are associated with higher telomeric content. (PubMed, NPJ Genom Med)
    We further observed that sarcomas with alterations in RAD51B or GID4 were enriched in samples with high telomeric content, specifically within uterus leiomyosarcoma for RAD51B and soft tissue sarcoma (not otherwise specified, nos) for GID4, Furthermore, RAD51B and POT1 alterations were mutually exclusive with ATRX and DAXX alterations, suggestive of functional redundancy. Our results propose a role played by RAD51B and GID4 in telomere elongation in sarcomas and open research opportunities for agents aimed at targeting this critical pathway in tumorigenesis.
    Journal
    |
    ATRX (ATRX Chromatin Remodeler) • RAD51B (RAD51 Paralog B) • POT1 (Protection of telomeres 1) • DAXX (Death-domain associated protein)
    |
    FoundationOne® Heme CDx
    1year
    Follicular Dendritic Cell Sarcoma With Associated Novel FBXW7 and KMT2C Mutations Identified by Targeted Genome Sequencing (CAP 2023)
    KMT2C A2254T has only been reported in astrocytoma. To our knowledge, this is the first case report of FBXW7 and KMT2C mutations in FDCS, which may indicate biologic and therapeutic relevance (Figure 1.82, A–D).
    FBXW7 (F-Box And WD Repeat Domain Containing 7) • KMT2C (Lysine Methyltransferase 2C) • BIRC3 (Baculoviral IAP repeat containing 3) • CR1 (Complement C3b/C4b Receptor 1) • FCER2 (Fc Fragment Of IgE Receptor II)
    |
    KMT2C mutation • MTOR mutation • KIT V559 • MLL3 mutation
    |
    FoundationOne® Heme CDx
    over1year
    GeNeo: Agnostic comprehensive genomic profiling versus limited panel organ-directed next-generation sequencing within the Belgian PRECISION initiative (ESMO 2023)
    Conclusions Tumor-agnostic CGP provides more treatment options to patients with advanced solid tumors when compared to organ-directed NGS panel testing. The national MTB provides recommendations within a clinically relevant timeframe and enhances the uptake of MGTs.
    Next-generation sequencing
    |
    FoundationOne® CDx • FoundationOne® Heme CDx
    over1year
    Establishing clinical performance characteristics for Duoseq, a new assay for DNA and RNA sequencing. (ASCO 2023)
    This study demonstrates performance characteristics that suggest Duoseq would perform well as a clinical-grade assay. Local laboratory factors that include staffing, case volumes, and reimbursement affect adoption and turnaround times in the individual clinical laboratory. However, we anticipate that Duoseq implementation will accelerate the diagnosis of hematologic malignancies and facilitate rapid, more cost-effective care to improve patient outcomes.
    Clinical
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • TET2 (Tet Methylcytosine Dioxygenase 2)
    |
    FoundationOne® Heme CDx
    over1year
    A step toward genomic equity: Mutational profiling of patients with myeloid neoplasm in the largest minority-serving hospital in metropolitan Chicago. (ASCO 2023)
    Premalignant mutations (e.g., ASXL1, TET2) predominated in our patients and tended to co-occur, increasing the overall mutational burden. Non-White patients were more likely to have IDH2 mutations. Adverse markers were common among AML & MDS patients, likely contributing to their dismal survival.
    Clinical • Tumor mutational burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2)
    |
    TP53 mutation • IDH2 mutation • DNMT3A mutation • RUNX1 mutation • ASXL1 mutation • TET2 mutation • SRSF2 mutation
    |
    FoundationOne® Heme CDx • Tempus xT Assay
    over1year
    COTESARC: MEK Inhibitor and a PDL1 Inhibitor Patients With Locally Advanced and/or Metastatic Soft Tissue Sarcoma (clinicaltrials.gov)
    P1/2 | N=320 | Recruiting | Sponsor: Centre Leon Berard | N=120 ➔ 320
    Enrollment change
    |
    TMB (Tumor Mutational Burden)
    |
    FoundationOne® Heme CDx
    |
    Tecentriq (atezolizumab) • Cotellic (cobimetinib)
    over1year
    Exploring the genomic landscape of colorectal cancer for enabling clinical genomics informed and real-world data based clinical development (AACR 2023)
    RWD based clinical genomic profiling confirms that the vast majority of RAS-alterations in CRC are SVs in exons 2, 3 and 4. Both TMB-high and MSI-high samples are significantly more abundant in the RAS/BRAF-altered cohort. RWD confirms that PI3K-, ERBB- and FGFR-signaling pathways are frequently altered in CRC.
    Real-world evidence • Clinical • Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker • Real-world
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • FGFR1 (Fibroblast growth factor receptor 1) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    TMB-H • MSI-H/dMMR • KRAS G12C • KRAS G12D • KRAS G12V • BRAF wild-type • KRAS G12 • NRAS G12D
    |
    FoundationOne® CDx • FoundationOne® Heme CDx
    almost2years
    EWSR1-PATZ1 fusion malignancies with completely different clinic histopathological behaviors (Sarcoma-RC 2023)
    She completed radiotherapy with concurrent and adjuvant temozolomide (TMZ) per Stupp protocol...She failed bevacizumab (bev) alone or in combination with TMZ. Therefore, BEEP (Bev 15mg/kg D0, etoposide 70/m2 D1-D3, cisplatin 70/m2 D1, Q21D) was given for salvage...Nested RT-PCR or NGS are better options. Legal entity responsible for the study The authors.
    Tumor mutational burden
    |
    TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PALB2 (Partner and localizer of BRCA2) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • EWSR1 (EWS RNA Binding Protein 1) • NKX2-1 (NK2 Homeobox 1) • FUS (FUS RNA Binding Protein) • SYP (Synaptophysin) • GFAP (Glial Fibrillary Acidic Protein) • MYOD1 (Myogenic Differentiation 1) • NCOA2 (Nuclear Receptor Coactivator 2) • PATZ1 (POZ/BTB And AT Hook Containing Zinc Finger 1)
    |
    PALB2 mutation • IDH wild-type
    |
    FoundationOne® Heme CDx
    |
    Avastin (bevacizumab) • cisplatin • temozolomide • etoposide IV
    almost2years
    Uterine Leiomyosarcoma with Heterologous (“Divergent”) Differentiation: A Pathologic and Molecular Study of 6 Cases (USCAP 2023)
    uLMS with heterologous differentiation shows genomic overlap with conventional uLMS with similar driver alterations. Comprehensive genomic profiling of uLMS with aberrant differentiation can help diagnose and improve tumor classification.
    Clinical • Tumor mutational burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • RB1 (RB Transcriptional Corepressor 1) • ATRX (ATRX Chromatin Remodeler) • PAX3 (Paired Box 3)
    |
    TP53 mutation • IDH1 mutation • PTEN mutation • TMB-L
    |
    FoundationOne® Heme CDx
    almost2years
    Acute Myeloid Leukemia with CEBPA Mutation: Next-Generation Sequencing-Based Computational Approach For Enhancing the Diagnosis of Patients with Potential Germline CEBPA Mutated Predisposition (USCAP 2023)
    Recognizing and referring patients with possible germline mutations for appropriate genetic evaluation and testing provides insight into best patient care strategies along with education and testing opportunities for family members. Leukemia based NGS panels may aid as screening tools for detecting potential pathogenic germline variants.
    Clinical • Next-generation sequencing
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    FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KMT2C (Lysine Methyltransferase 2C) • WT1 (WT1 Transcription Factor) • BCOR (BCL6 Corepressor) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • CD36 (thrombospondin receptor) • MSH3 (MutS Homolog 3) • GATA2 (GATA Binding Protein 2) • PHF6 (PHD Finger Protein 6) • BCORL1 (BCL6 Corepressor Like 1)
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    NRAS Q61 • CEBPA mutation • NRAS G13 • NRAS Q61L • DNMT3A R882H • IDH1 R132 • NRAS G13D • NRAS G13R • IDH2 R140Q • DNMT3A R882 • NPM1 W288
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    FoundationOne® Heme CDx
    almost2years
    Correlation of MYD88 Allele Frequency by Next Generation Sequencing with Clinicopathologic Findings in Lymphoplasmacytic Lymphoma (USCAP 2023)
    We are reporting a positive correlation between MYD88 allelic burden and Clonal B-cell fraction in LPL. Quantitative molecular assay for MYD88 might be useful for evaluation of residual disease in LPL.
    Clinical • Tumor mutational burden • Next-generation sequencing
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    TMB (Tumor Mutational Burden) • CD20 (Membrane Spanning 4-Domains A1) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • CD19 (CD19 Molecule) • B2M (Beta-2-microglobulin) • PAX5 (Paired Box 5) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C) • SDC1 (Syndecan 1)
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    CD19 positive • MYD88 L265P
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    FoundationOne® Heme CDx • TruSight Myeloid Sequencing Panel
    almost2years
    Cohesin Mutations are Mostly Seen in Acute Myeloid Leukemia with Myelodysplasia Related Changes: A Single Center Cohort of 1599 Bone Marrow Samples (USCAP 2023)
    Cohesin mutations were frequent in AML-MRC in our series. Additional studies are needed for delineating any prognostic differences between the types of Cohesin mutations and for exploring the possibility of novel therapeutic targets.
    Clinical
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    NRAS (Neuroblastoma RAS viral oncogene homolog) • NPM1 (Nucleophosmin 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • STAG2 (Stromal Antigen 2)
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    ASXL1 mutation • TET2 mutation • SRSF2 mutation • STAG2 mutation
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    FoundationOne® Heme CDx
    2years
    Genomic Profiling Reveals Differences in Primary Central Nervous System Lymphoma and Large B-Cell Lymphoma, With Subtyping Suggesting Sensitivity to BTK Inhibition. (PubMed, Oncologist)
    CGP of PCLs reveals biomarkers, genomic alterations, and molecular classifications predictive of BTKi efficacy and potential ICPI efficacy. Given the limitations of standard of care for PCL, CGP is critical to identify potential therapeutic approaches for patients in this rare form of lymphoma.
    Journal • Tumor Mutational Burden
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    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • CXCR4 (Chemokine (C-X-C motif) receptor 4) • ETV6 (ETS Variant Transcription Factor 6) • CREBBP (CREB binding protein) • PIM1 (Pim-1 Proto-Oncogene) • PRDM1 (PR/SET Domain 1)
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    PD-L1 amplification
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    FoundationOne® Heme CDx
    2years
    Liquid Biopsy-Based Next-Generation Sequencing Is an Alternative to Tissue Molecular Profiling of Lymphoid, Plasma-Cell, and Myeloid Neoplasms (ASH 2022)
    "LB detected relevant genomic alterations in the majority of patients with a variety of HNs. Given its analytical sensitivity, LB may also detect low-level residual or emerging therapy-resistant clones unable to be detected in a single tissue specimen and may play a role in the evaluation of the patient's disease course and in associated treatment decisions. This pilot study suggests the potential value of LB in the clinical management of patients; however, further prospective evidence would be required to quantify the utility of LB for patients with HNs."
    Liquid biopsy
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    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • NF1 (Neurofibromin 1) • JAK2 (Janus kinase 2) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • PD-L2 (Programmed Cell Death 1 Ligand 2)
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    BRAF fusion
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    FoundationOne® CDx • FoundationOne® Liquid CDx • FoundationOne® Heme CDx
    2years
    Racial and Ethnic Disparities in Acute Myeloid Leukemia: 15-Year Experience at a Safety-Net Health System (ASH 2022)
    Our results may suggest that when healthcare access is not a barrier to treatment, Hispanic patients with AML can have similar, if not improved, outcomes to other populations. However, access to transplant remains a major barrier that needs to be further addressed to improve outcomes for this patient population.
    Clinical
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    NRAS (Neuroblastoma RAS viral oncogene homolog) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • WT1 (WT1 Transcription Factor) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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    NPM1 mutation • RUNX1 mutation • TET2 mutation
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    FoundationOne® Heme CDx
    2years
    DelPHI: Delivering Precision Health Insights for Timely Diagnosis and Treatment of Epithelioid Sarcoma Using Protean MAPS and NAVIFY Digital Tools (AMP 2022)
    P2 | "Notably, a complete SMARCB1/INI1 deletion (targetable by tazemetostat) was identified... NGS in conjunction with OGM demonstrated improved detection of clinically actionable alterations for this patient. Thus, both tests should be routinely considered as a part of the diagnostic regimen to better characterize key mutations in rare tumors and uncover actionable targets for treatment. Combining multiple types of molecular analyses uncovered that this patient was eligible for a novel clinical trial."
    PD-L1 (Programmed death ligand 1) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • MUTYH (MutY homolog)
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    SMARCB1 deletion
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    FoundationOne® Heme CDx • Tempus xF Assay
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    Tazverik (tazemetostat)
    2years
    Molecular analysis of astrocytomas with a dominant pilomyxoid morphology (SNO 2022)
    While these also likely cause MAPK pathway activation, these non-BRAF variants are less common in PAs. Our report contributes to growing evidence that PMAs harbor a distinct molecular alteration profile, which is becoming increasingly important in the context of the evolving targeted therapeutics landscape.
    Tumor mutational burden
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    BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • FGFR1 (Fibroblast growth factor receptor 1) • NF1 (Neurofibromin 1) • ATRX (ATRX Chromatin Remodeler) • KIAA1549 • NTRK (Neurotrophic receptor tyrosine kinase) • TACC1 (Transforming Acidic Coiled-Coil Containing Protein 1)
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    BRAF V600E • BRAF V600 • NF1 mutation • ALK fusion • FGFR mutation • KIAA1549-BRAF fusion • BRAF fusion • FGFR1 fusion
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    FoundationOne® CDx • FoundationOne® Heme CDx
    2years
    Integrated diagnosis and therapeutic decision of pediatric nervous system tumors using a comprehensive genomic profiling test (EANO 2022)
    Comprehensive genomic profiling tests can improve diagnostic accuracy and allow for a more reliable approach to the management of pediatric patients with nervous system tumors. Although in most patients there was no immediate therapeutic application of the potential targets found, the genomic data obtained could be very useful to patients who may have tumor progressions in the future.
    Clinical
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    FoundationOne® Heme CDx