EGAGenomicsExome Sequencinghttps://ega-archive.org/studies/EGAS00001005117EGAEGA study EGAS00001005117Common clonal origin of chronic myelomonocytic leukemia and B cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variantEGArestrictedleukemia, ALL, Childhood., Perform, WHOLE EXOME SEQUENCING, B Cells, precursor lymphoblastic lymphoma/leukemia, Lymphocytic Leukemia, B Lymphocytes, Bursa-Dependent Lymphocytes, Chronic Myelomonocytic, Exome, B cell, chronic myelomonocytic leukemia (CMML), WXS, CMML, Myelomonocytic Leukemias, acute lymphoblastic leukaemia, Lymphoid Leukemia, Philadelphia-Positive, Client, L1 Lymphocytic Leukemia, Leukemias, chronic myelomonocytic leukemia, Lymphoblastic Lymphoma, Exome Sequencing, Acute Lymphoid Leukemia, Chronic Myelomonocytic Leukemia, Acute Lymphocytic, Acute Lymphoid, acute lymphocytic leukaemia, Childhood ALL, Whole-Exome Sequencing, Performed, Lymphoblastic Leukemia, Lymphocytic, WES, B-cell, Leukemia, lymphoblastic leukaemia, WXS (whole exome sequencing), juvenile myelomonocytic, Lymphoblastic, Bursa-Equivalent Lymphocyte, patient, Childhood, Acute Lymphoblastic Leukemia, Adult, Chronic Myelomonocytic Leukemias, chronic myelomonocytic, L2 Lymphocytic, Acute Lymphoblastic, PERFORMED, L1, lymphoblastic leukemia, Acute, L2, Myelomonocytic Leukemia, L1 Lymphocytic, B lymphocyte, Patient, B-Lymphocyte, Clients, Precursor Cell Lymphoblastic Leukemia Lymphoma, Lymphoma, Whole Exome Sequencing, chronic myelomonocytic leukaemia (CMML), Chronic, L2 Lymphocytic Leukemia, Acute lymphoblastic leukemia, Lymphoid, B-lymphocyte, Acute Lymphocytic LeukemiaClinical Study Case, B Cells, WHOLE EXOME SEQUENCING, precursor lymphoblastic lymphoma/leukemia, Myelodysplasia, Lymphocytic Leukemia, Bursa-Dependent Lymphocytes, Adverse Event Possibly Related to Intervention, Neoplasms, B cell, Benign Neoplasm, Possibly Related to Intervention, acute lymphoblastic leukaemia, Tumor, Malignant, case, Cellular Transformation, chronic myelomonocytic leukemia, Driver Device, Mutations, Fluorescence-Activated, Fluorescence-Activated Cell Sortings, Microfluorometry, Susceptibility, Clonal, CASE, Dysmyelopoietic Syndromes, Transforming, Flow Microfluorimetry, Cell Sortings, Childhood ALL, Whole-Exome Sequencing, Cytofluorometry, Lymphocytic, Somatic, WES, B-cell, Leukemia, Hematopoetic Myelodysplasias, lymphoblastic leukaemia, Dysmyelopoietic Syndrome, WXS (whole exome sequencing), juvenile myelomonocytic, Fluorescence Activated Cell Sorting, Malignancy, FACS, Flow Cytofluorometries, Microfluorometries, Case, Adult, Evolution, Chronic Myelomonocytic Leukemias, Case Dosing Unit, Neoplasias, True Case Status, L2 Lymphocytic, Packaging Case, Acute Lymphoblastic, European Directorate for the Quality of Medicines and HealthCare Transformation, L1, lymphoblastic leukemia, Possible, L2, Myelomonocytic Leukemia, L1 Lymphocytic, B lymphocyte, malignant neoplasm, Clients, transformation, Precursor Cell Lymphoblastic Leukemia Lymphoma, Syndrome, chronic myelomonocytic leukaemia (CMML), Flow, Flow Microfluorometries, Cytometry, Chronic, Acute lymphoblastic leukemia, Lymphoid, Malignancies, Susceptible, myelodysplastic syndrome, Flow Cytofluorometry, Cytometries, Sortings, Cancer, Tumors, leukemia, ALL, TRA, Transformation, Cell Sorting, Myelodysplastic Syndrome, Fluorescence-Activated Cell Sorting, Malignant Neoplasm, B Lymphocytes, Chronic Myelomonocytic, Exome, chronic myelomonocytic leukemia (CMML), WXS, CMML, Myelomonocytic Leukemias, Lymphoid Leukemia, Philadelphia-Positive, Flow Cytometries, Client, L1 Lymphocytic Leukemia, Somatic Evolution, MDS, Leukemias, Hematopoetic, Microfluorimetry, Hematopoetic Myelodysplasia, Lymphoblastic Lymphoma, data transformations, Exome Sequencing, MT, Benign, EDQM-HC Transformation Terminology, Acute Lymphoid Leukemia, Chronic Myelomonocytic Leukemia, Neoplasm, Acute Lymphocytic, rare (European definition), Acute Lymphoid, Flow Microfluorometry, acute lymphocytic leukaemia, Lymphoblastic Leukemia, Possibly Related, Cytofluorometries, primary cancer, Driver, susceptibility to, Transformed, Lymphoblastic, Benign Neoplasms, Bursa-Equivalent Lymphocyte, Possible Attribution, patient, Childhood, Acute Lymphoblastic Leukemia, Predisposition, Cancers, Fluorescence-Activated Cell, Myelodysplastic, FAC sorting, malignant tumor, chronic myelomonocytic, Data Transformation, Acute, Syndromes, Patient, Myelodysplasias, B-Lymphocyte, Lymphoma, Sorting, Whole Exome Sequencing, L2 Lymphocytic Leukemia, Cell Transformation, B-lymphocyte, Acute Lymphocytic Leukemia, Neoplasia, Dysmyelopoietic, Malignant Neoplasms.falseWhole-exome sequencing performed on a patient with chronic myelomonocytic leukemia and B cell acute lymphoblastic leukemiaWe studied the rare case of a patient who underwent transformation of myelodysplastic syndrome to chronic myelomonocytic leukemia and B cell acute lymphoblastic leukemia. We used fluorescence-activated cell sorting and whole-exome sequencing to identify driver mutations in the various clones. This allowed us to propose a model of branching clonal evolution with a possible germline predisposition to cancer.2022-01-05 15:07:22EGAS000010051179606EGAD00001007644EGAC00001002094