Associated Papers
Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.
Cheng WY et al.
Blood, 2025
40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1
Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk.
Marín-Quílez A et al.
British Journal of Haematology, 2025
Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.
Tesi B et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
40388595 (PubMed )
Supplement: ccr-24-4251_supplementary_table_3_suppst3.xlsx › Supplementary_table_3
Single-cell Transcriptional Atlas of Human Hematopoiesis Reveals Genetic and Hierarchy-Based Determinants of Aberrant AML Differentiation.
Zeng AGX et al.
Blood Cancer Discovery, 2025
40294241 (PubMed )
Supplement: bcd-24-0342_supplementary_tables_s1-s21_suppst1.xlsx › S18_-_Tapestri_CO131_Panel
Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent ASXL1 and NRAS mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.
Jeong Y
Leukemia & Lymphoma, 2025
39819262 (PubMed )
Supplement: supplement_1.pdf
Clonal hematopoiesis in patients with autoimmune thrombocytopenia: an international multicenter study.
Fattizzo B et al.
Blood Advances, 2025
39536292 (PubMed )
Supplement: BLOODA_ADV-2024-014984-mmc1.pdf
Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).
Ernst MPT et al.
Hemasphere, 2025
39822584 (PubMed )
Supplement: HEM3-9-e70057-s001.xlsx › Sheet1
Case Report: A rare RUNX1 rearrangement resulting from t(8;21)(p12;q22) in acute myeloid leukemia with plasmacytoid dendritic cell expansion.
Gong J et al.
Frontiers in Oncology, 2025
41103945 (PubMed )
Supplement: Table1.xlsx › Table_S1
Beyond myeloid neoplasms germline guidelines: Validation of the thresholds criteria in the search of germline predisposition variants.
Mestre J et al.
Ejhaem, 2024
1q jumping translocation as a biomarker in myeloid malignancy: frequently mutated genes associated with bad prognosis and low survival.
Halper-Stromberg E et al.
Experimental Hematology & Oncology, 2024
39090734 (PubMed )
Supplement: 40164_2024_541_MOESM1_ESM.pdf
Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.
Kandarpa M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2
The clinical phenotype of germline RUNX1 mutations in relation to the accompanying somatic variants and RUNX1 isoform expression.
Cabrerizo Granados D et al.
Genes, Chromosomes & Cancer, 2023
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC et al.
Blood Advances, 2023
37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc2.xlsx › Genomics_Cohorts
Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.
McCarter JGW et al.
Blood Advances, 2023
37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable3
Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort.
Yamamori A et al.
American Journal of Hematology, 2023
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Saygin C et al.
Blood Advances, 2023
36001442 (PubMed )
Supplement: BLOODA_ADV-2022-008172-mmc1.pdf
Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.
Zuo Z et al.
Biology, 2022
36671709 (PubMed )
Supplement: biology-12-00013-s001.zip › biology-2072813-supplementary.xlsx › Suppl_tbl_Vaf
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf
Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms.
Sperling AS et al.
Blood, 2022
35512188 (PubMed )
Supplement: BLOOD_BLD-2021-014956-mmc1.pdf
Revision of RUNX1 variant curation rules.
Feurstein S et al.
Blood Advances, 2022
35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf
Distinct gene expression pattern of RUNX1 mutations coordinated by target repression and promoter hypermethylation in acute myeloid leukemia.
Li J et al.
Frontiers of Medicine, 2022
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V et al.
Ebiomedicine, 2022
35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 2022
35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs
Clonal evolution in patients developing therapy-related myeloid neoplasms following autologous stem cell transplantation.
Soerensen JF et al.
Bone Marrow Transplantation, 2022
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.
Homan CC et al.
Haematologica, 2021
34233450 (PubMed )
Supplement: 2021_278762_HOMAN_TABLE1_SUPPL.xlsx › Germline_RUNX1_registry
Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.
Li Y et al.
The Journal of Clinical Investigation, 2021
Clinical and genomic characterization of patients diagnosed with the provisional entity acute myeloid leukemia with BCR-ABL1, a Swedish population-based study.
Orsmark-Pietras C et al.
Genes, Chromosomes & Cancer, 2021
Delineation of Molecular Lesions in Acute Myeloid Leukemia Patients at Diagnosis: Integrated Next Generation Sequencing and Cytogenomic Studies.
Papuc SM et al.
Genes, 2021
34070898 (PubMed )
Supplement: genes-12-00846-s001.zip › genes-1225535-supplementary.xlsx › Sheet1
The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.
Ayala R et al.
Cancers, 2021
34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2
Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial.
Fenwarth L et al.
Haematologica, 2021
32554555 (PubMed )
Supplement: 2020_248872_FENWARTH_SUPPL.pdf
Different mutant RUNX1 oncoproteins program alternate haematopoietic differentiation trajectories.
Kellaway SG et al.
Life Science Alliance, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
33314633 (PubMed )
Supplement: CAM4-10-53-s004.xlsx › Sheet1
Archival bone marrow smears are useful in targeted next-generation sequencing for diagnosing myeloid neoplasms.
Sadato D et al.
Plos One, 2021
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Abelson S et al.
Science Advances, 2020
33298453 (PubMed )
Supplement: abe3722_Table_S3.xlsx › tab2
Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics.
Morita K et al.
Nature Communications, 2020
33087716 (PubMed )
Supplement: 41467_2020_19119_MOESM4_ESM.xlsx › Sheet1__2_
Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms.
DiFilippo EC et al.
Leukemia, 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
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