Assessing clonal haematopoiesis: clinical burdens and benefits of diagnosing myelodysplastic syndrome precursor states

DeZern, 2014, The challenging world of cytopenias: distinguishing myelodysplastic syndromes from other disorders of marrow failure, Oncologist, 19, 735, 10.1634/theoncologist.2014-0056 Gondek, 2014, I walk the line: how to tell MDS from other bone marrow failure conditions, Curr Hematol Malig Rep, 9, 389, 10.1007/s11899-014-0224-3 Vardiman, 2009, The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes, Blood, 114, 937, 10.1182/blood-2009-03-209262 Cogle, 2014, High rate of uncaptured myelodysplastic syndrome cases and an improved method of case ascertainment, Leuk Res, 38, 71, 10.1016/j.leukres.2013.10.023 Steensma, 2015, Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes, Blood, 126, 9, 10.1182/blood-2015-03-631747 Bejar, 2011, Unraveling the molecular pathophysiology of myelodysplastic syndromes, J Clin Oncol, 29, 504, 10.1200/JCO.2010.31.1175 Malcovati, 2017, Clinical significance of somatic mutation in unexplained blood cytopenia, Blood, 129, 3371, 10.1182/blood-2017-01-763425 Genovese, 2014, Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence, N Engl J Med, 371, 2477, 10.1056/NEJMoa1409405 Jaiswal, 2014, Age-related clonal hematopoiesis associated with adverse outcomes, N Engl J Med, 371, 2488, 10.1056/NEJMoa1408617 Tomasetti, 2017, Stem cell divisions, somatic mutations, cancer etiology, and cancer prevention, Science, 355, 1330, 10.1126/science.aaf9011 Tomasetti, 2015, Cancer etiology. Variation in cancer risk among tissues can be explained by the number of stem cell divisions, Science, 347, 78, 10.1126/science.1260825 Tomasetti, 2013, Half or more of the somatic mutations in cancers of self-renewing tissues originate prior to tumor initiation, Proc Natl Acad Sci USA, 110, 1999, 10.1073/pnas.1221068110 Lynch, 2010, Rate, molecular spectrum, and consequences of human mutation, Proc Natl Acad Sci USA, 107, 961, 10.1073/pnas.0912629107 Milholland, 2017, Differences between germline and somatic mutation rates in humans and mice, Nat Commun, 8, 10.1038/ncomms15183 Welch, 2012, The origin and evolution of mutations in acute myeloid leukemia, Cell, 150, 264, 10.1016/j.cell.2012.06.023 Xie, 2014, Age-related mutations associated with clonal hematopoietic expansion and malignancies, Nat Med, 20, 1472, 10.1038/nm.3733 Busque, 2012, Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis, Nat Genet, 44, 1179, 10.1038/ng.2413 Shlush, 2018, Age-related clonal hematopoiesis, Blood, 131, 496, 10.1182/blood-2017-07-746453 Linder, 1965, Glucose-6-phosphate dehydrogenase mosaicism: utilization as a cell marker in the study of leiomyomas, Science, 150, 67, 10.1126/science.150.3692.67 Fialkow, 1967, Clonal origin of chronic myelocytic leukemia in man, Proc Natl Acad Sci USA, 58, 1468, 10.1073/pnas.58.4.1468 Zink, 2017, Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly, Blood, 130, 742, 10.1182/blood-2017-02-769869 Steensma, 2018, Clinical consequences of clonal hematopoiesis of indeterminate potential, Hematology Am Soc Hematol Educ Program, 2018, 264, 10.1182/asheducation-2018.1.264 Young, 2016, Clonal haemopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults, Nat Commun, 7, 10.1038/ncomms12484 Jaiswal, 2017, Clonal hematopoiesis and risk of atherosclerotic cardiovascular disease, N Engl J Med, 377, 111, 10.1056/NEJMoa1701719 Gondek, 2016, Donor cell leukemia arising from clonal hematopoiesis after bone marrow transplantation, Leukemia, 30, 1916, 10.1038/leu.2016.63 Gibson, 2017, Clonal hematopoiesis associated with adverse outcomes after autologous stem-cell transplantation for lymphoma, J Clin Oncol, 35, 1598, 10.1200/JCO.2016.71.6712 Gibson, 2017, Donor-engrafted CHIP is common among stem cell transplant recipients with unexplained cytopenias, Blood, 130, 91, 10.1182/blood-2017-01-764951 Gillis, 2017, Clonal haemopoiesis and therapy-related myeloid malignancies in elderly patients: a proof-of-concept, case-control study, Lancet Oncol, 18, 112, 10.1016/S1470-2045(16)30627-1 Haferlach, 2014, Landscape of genetic lesions in 944 patients with myelodysplastic syndromes, Leukemia, 28, 241, 10.1038/leu.2013.336 Arber, 2016, The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia, Blood, 127, 2391, 10.1182/blood-2016-03-643544 Valent, 2017, Proposed minimal diagnostic criteria for myelodysplastic syndromes (MDS) and potential pre-MDS conditions, Oncotarget, 8, 73483, 10.18632/oncotarget.19008 DeZern, 2019, CHIP, CCUS, and other acronyms: definition, implications, and impact on practice, Am Soc Clin Oncol Educ Book, 39, 400, 10.1200/EDBK_239083 Greenberg, 2016, Cytopenia levels for aiding establishment of the diagnosis of myelodysplastic syndromes, Blood, 128, 2096, 10.1182/blood-2016-07-728766 Valent, 2009, Minimal diagnostic criteria for myelodysplastic syndromes and separation from ICUS and IDUS: update and open questions, Eur J Clin Invest, 39, 548, 10.1111/j.1365-2362.2009.02151.x Valent, 2012, Idiopathic cytopenia of undetermined significance (ICUS) and idiopathic dysplasia of uncertain significance (IDUS), and their distinction from low risk MDS, Leuk Res, 36, 1 Valent, 2017, Proposed terminology and classification of pre-malignant neoplastic conditions: a consensus proposal, EBioMedicine, 26, 17, 10.1016/j.ebiom.2017.11.024 Malcovati, 2013, Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet, Blood, 122, 2943, 10.1182/blood-2013-03-492884 Guralnik, 2004, Prevalence of anemia in persons 65 years and older in the United States: evidence for a high rate of unexplained anemia, Blood, 104, 2263, 10.1182/blood-2004-05-1812 Greenberg, 2017, Myelodysplastic syndromes, version 2.2017, NCCN clinical practice guidelines in oncology, J Natl Compr Canc Netw, 15, 60, 10.6004/jnccn.2017.0007 Sekeres, 2019, The National MDS Natural History Study: design of an integrated data and sample biorepository to promote research studies in myelodysplastic syndromes, Leuk Lymphoma, 10.1080/10428194.2019.1616186 Li, 2017, Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists, J Mol Diagn, 19, 4, 10.1016/j.jmoldx.2016.10.002 Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, 17, 405, 10.1038/gim.2015.30 Guidugli, 2017, Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes, Leukemia, 31, 1226, 10.1038/leu.2017.28 Kennedy, 2019, Genetic predisposition to MDS: clinical features and clonal evolution, Blood, 133, 1071, 10.1182/blood-2018-10-844662 Ghobrial, 2018, The bone-marrow niche in MDS and MGUS: implications for AML and MM, Nat Rev Clin Oncol, 15, 219, 10.1038/nrclinonc.2017.197 Sperling, 2017, The genetics of myelodysplastic syndrome: from clonal haemopoiesis to secondary leukaemia, Nat Rev Cancer, 17, 5, 10.1038/nrc.2016.112 Walter, 2012, Clonal architecture of secondary acute myeloid leukemia, N Engl J Med, 366, 1090, 10.1056/NEJMoa1106968 Wong, 2015, Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia, Nature, 518, 552, 10.1038/nature13968 Takahashi, 2017, Preleukaemic clonal haemopoiesis and risk of therapy-related myeloid neoplasms: a case-control study, Lancet Oncol, 18, 100, 10.1016/S1470-2045(16)30626-X Abelson, 2018, Prediction of acute myeloid leukaemia risk in healthy individuals, Nature, 559, 400, 10.1038/s41586-018-0317-6 Desai, 2018, Somatic mutations precede acute myeloid leukemia years before diagnosis, Nat Med, 24, 1015, 10.1038/s41591-018-0081-z Fuster, 2017, Clonal hematopoiesis associated with TET2 deficiency accelerates atherosclerosis development in mice, Science, 355, 842, 10.1126/science.aag1381 Zhang, 2015, Tet2 is required to resolve inflammation by recruiting Hdac2 to specifically repress IL-6, Nature, 525, 389, 10.1038/nature15252 Cull, 2017, Tet2 restrains inflammatory gene expression in macrophages, Exp Hematol, 55, 56, 10.1016/j.exphem.2017.08.001 Kwok, 2015, MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance, Blood, 126, 2355, 10.1182/blood-2015-08-667063 Malcovati, 2015, The shadowlands of MDS: idiopathic cytopenias of undetermined significance (ICUS) and clonal hematopoiesis of indeterminate potential (CHIP), Hematology Am Soc Hematol Educ Program, 2015, 299, 10.1182/asheducation-2015.1.299 Petrova-Drus, 2017, Clinicopathologic evaluation of cytopenic patients with isolated trisomy 8: a detailed comparison between idiopathic cytopenia of unknown significance and low-grade myelodysplastic syndrome, Leuk Lymphoma, 58, 569, 10.1080/10428194.2016.1203432 Neukirchen, 2017, Cytogenetic clonal evolution in myelodysplastic syndromes is associated with inferior prognosis, Cancer, 123, 4608, 10.1002/cncr.30917 Steensma, 2018, How I use molecular genetic tests to evaluate patients who have or may have myelodysplastic syndromes, Blood, 132, 1657, 10.1182/blood-2018-06-860882 Brunner, 2018, Recent advances in the cellular and molecular understanding of myelodysplastic syndromes: implications for new therapeutic approaches, Clin Adv Hematol Oncol, 16, 56