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Clonal hematopoiesis in clinical practice: walking a tightrope

, , , , , , , & ORCID Icon show all
Pages 2536-2544 | Received 21 Mar 2022, Accepted 01 Jun 2022, Published online: 13 Jun 2022

References

  • Bowman RL, Busque L, Levine RL. Clonal hematopoiesis and evolution to hematopoietic malignancies. Cell Stem Cell. 2018;22(2):157–170.
  • Takeshima H, Ushijima T. Accumulation of genetic and epigenetic alterations in normal cells and cancer risk. NPJ Precis Oncol. 2019;3:7.
  • Blokzijl F, de Ligt J, Jager M, et al. Tissue-specific mutation accumulation in human adult stem cells during life. Nature. 2016;538(7624):260–264.
  • Alexandrov LB, Jones PH, Wedge DC, et al. Clock-like mutational processes in human somatic cells. Nat Genet. 2015;47(12):1402–1407.
  • Watson CJ, Papula AL, Poon GYP, et al. The evolutionary dynamics and fitness landscape of clonal hematopoiesis. Science. 2020;367(6485):1449–1454.
  • Welch JS, Ley TJ, Link DC, et al. The origin and evolution of mutations in acute myeloid leukemia. Cell. 2012;150(2):264–278.
  • Steensma DP, Bejar R, Jaiswal S, et al. Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood. 2015;126(1):9–16
  • Jaiswal S, Natarajan P, Silver AJ, et al. Clonal hematopoiesis and risk of atherosclerotic cardiovascular disease. N Engl J Med. 2017;377(2):111–121.
  • Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371(26):2488–2498.
  • Garcia-Manero G, Chien KS, Montalban-Bravo G. Myelodysplastic syndromes: 2021 update on diagnosis, risk stratification and management. Am J Hematol. 2020;95(11):1399–1420.
  • Nixon CP, Sweeney JD. Autoimmune cytopenias: diagnosis & management. R I Med J. 2016;99(12):36–40.
  • Pierre R v, Hoagland HC. Age-associated aneuploidy: loss of Y chromosome from human bone marrow cells with aging. Cancer. 1972;30(4):889–894.
  • Osman AEWG. When are idiopathic and clonal cytopenias of unknown signifcance (ICUS or CCUS)? Hematology Am Soc Hematol Educ Program. 2021;2021(1):399–404.
  • Feusier JE, Arunachalam S, Tashi T, et al. Large-scale identification of clonal hematopoiesis and mutations recurrent in blood cancers. Blood Cancer Discov. 2021;2(3):226–237.
  • Kwok B, Hall JM, Witte JS, et al. MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance. Blood. 2015;126(21):2355–2361.
  • Cargo CA, Rowbotham N, Evans PA, et al. Targeted sequencing identifies patients with preclinical MDS at high risk of disease progression [Internet]. 2015. Available from http://ashpublications.org/blood/article-pdf/126/21/2362/1389857/2362.pdf.
  • Mangaonkar AA, Tande AJ, Bekele DI. Differential diagnosis and workup of monocytosis: a systematic approach to a common hematologic finding. Curr Hematol Malig Rep. 2021;16(3):267–275. Springer
  • Kwon J. Diagnosis and treatment of chronic myelomonocytic leukemia. Blood Res. 2021;56(S1):S5–S16.
  • Landau DA, Carter SL, Getz G, et al. Clonal evolution in hematological malignancies and therapeutic implications. Leukemia. 2014;28(1):34–43.
  • Valent P. Oligo-monocytic CMML and other pre-CMML states: clinical impact, prognostication and management. Best Pract Res Clin Haematol. 2020;33(2):101137.
  • Greenfield G, McMullin MF, Mills K. Molecular pathogenesis of the myeloproliferative neoplasms. J Hematol Oncol. 2021;14(1):103.
  • Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7(4):387–397.
  • Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352(17):1779–1790.
  • Mejdoubi M, Monthieux A, Cassan T, et al. Brain MRI in infants after maternal zika virus infection during pregnancy. N Engl J Med. 2017;377(14):1399–1400.
  • Sano S, Walsh K. Hematopoietic JAK2V617F-mediated clonal hematopoiesis: AIM2 understand mechanisms of atherogenesis. J Cardiovasc Aging. 2021;1:6.
  • Vassiliou GS. JAK2 V617F clonal disorders: fate or chance? Blood. 2016;128(8):1032–1033.
  • Cordua S, Kjaer L, Skov V, et al. Prevalence and phenotypes of JAK2 V617F and calreticulin mutations in a Danish general population. Blood. 2019;134(5):469–479.
  • Kent DG, Li J, Tanna H, et al. Self-renewal of single mouse hematopoietic stem cells is reduced by JAK2V617F without compromising progenitor cell expansion. PLoS Biol. 2013;11(6):e1001576.
  • Barbui T, Thiele J, Gisslinger H, et al. The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion. Blood Cancer J. 2018;8(2):15.
  • Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the world health organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–2405.
  • Pizzi M, Croci GA, Ruggeri M, et al. The classification of myeloproliferative neoplasms: rationale, historical background and future perspectives with focus on unclassifiable cases. Cancers. 2021;13(22):5666.
  • Iurlo A, Gianelli U, Cattaneo D, et al. Impact of the 2016 revised WHO criteria for myeloproliferative neoplasms, unclassifiable: comparison with the 2008 version. Am J Hematol. 2017;92(4):E48–E51.
  • Gianelli U, Cattaneo D, Bossi A, et al. The myeloproliferative neoplasms, unclassifiable: clinical and pathological considerations. Mod Pathol. 2017;30(2):169–179.
  • Ortmann CA, Kent DG, Nangalia J, et al. Effect of mutation order on myeloproliferative neoplasms. N Engl J Med. 2015;372(7):601–612.
  • Caiado F, Pietras EM, Manz MG. Inflammation as a regulator of hematopoietic stem cell function in disease, aging, and clonal selection. J Exp Med. 2021;218(7):e20201541.
  • Lusis AJ. A vicious cycle in atherosclerosis. Cell. 2021;184(5):1139–1141.
  • Marnell CS, Bick A, Natarajan P. Clonal hematopoiesis of indeterminate potential (CHIP): linking somatic mutations, hematopoiesis, chronic inflammation and cardiovascular disease. J Mol Cell Cardiol. 2021;161:98–105.
  • Kang M-G, Choi H-W, Lee JH, et al. Coexistence of JAK2 and CALR mutations and their clinical implications in patients with essential thrombocythemia. Oncotarget. 2016;7(35):57036–57049. www.impactjournals.com/oncotarget.
  • Usseglio F, Beaufils N, Calleja A, et al. Detection of CALR and MPL mutations in low allelic burden JAK2 V617F essential thrombocythemia. J Mol Diagn. 2017;19(1):92–98.
  • Lambert JR, Everington T, Linch DC, et al. In essential thrombocythemia, multiple JAK2-V617F clones are present in most mutant-positive patients: a new disease paradigm. Blood. 2009;114(14):3018–3023.
  • Makarik T v, Abdullaev AO, Nikulina EE, et al. Low JAK2 V617F allele burden in Ph-negative chronic myeloproliferative neoplasms is associated with additional CALR or MPL gene mutations. Genes. 2021;12(4):559.
  • Thompson ER, Nguyen T, Kankanige Y, et al. Clonal independence of JAK2 and CALR or MPL mutations in comutated myeloproliferative neoplasms demonstrated by single cell DNA sequencing. Haematologica. 2021;106(1):313–315.
  • Estey E, Grimwade D, Amadori S, et al. Diagnosis and management of AML in adults: 2017. ELN recommendations from an international expert panel. 2017. Available from: www.bloodjournal.org.
  • Schuurhuis GJ, Heuser M, Freeman S, et al. Minimal/measurable residual disease in AML: a consensus document from the European LeukemiaNet MRD Working Party. Blood. 2018;131(12):1275–1291. http://ashpublications.org/blood/article-pdf/131/12/1275/1405674/blood801498.pdf.
  • Heuser M, Freeman SD, Ossenkoppele GJ, et al. 2021 Update on MRD in acute myeloid leukemia: a consensus document from the European LeukemiaNet MRD Working Party. Blood. 2021;138(26):2753–2767.
  • Höllein A, Meggendorfer M, Dicker F, et al. NPM1 mutated AML can relapse with wild-type NPM1: Persistent clonal hematopoiesis can drive relapse. Blood Adv. 2018;2(22):3118–3125.
  • Hasserjian RP, Steensma DP, Graubert TA, et al. Clonal hematopoiesis and measurable residual disease assessment in acute myeloid leukemia. Blood. 2020;135(20):1729–1738.
  • Bolton KL, Zehir A, Ptashkin RN, et al. The clinical management of clonal hematopoiesis: creation of a clonal hematopoiesis clinic. Hematol Oncol Clin North Am. 2020;34(2):357–367.
  • Cook EK, Luo M, Rauh MJ. Clonal hematopoiesis and inflammation: partners in leukemogenesis and comorbidity. Exp Hematol. 2020;83:85–94.
  • Vas V, Senger K, Dörr K, et al. Aging of the microenvironment influences clonality in hematopoiesis. PLoS One. 2012;7(8):e42080.
  • Savola P, Lundgren S, Keränen MAI, et al. Clonal hematopoiesis in patients with rheumatoid arthritis. Blood Cancer J. 2018;8(8):69.
  • Zhang CRC, Nix D, Gregory M, et al. Inflammatory cytokines promote clonal hematopoiesis with specific mutations in ulcerative colitis patients. Exp Hematol. 2019;80:36–41.e3.
  • Steensma DP. Clinical consequences of clonal hematopoiesis of indeterminate potential. Blood Adv. 2018;2(22):3404–3410.
  • Miller PG, Sperling AS, Brea EJ, et al. Clonal hematopoiesis in patients receiving chimeric antigen receptor T-cell therapy. Blood Adv. 2021;5(15):2982–2986.
  • Coombs CC, Zehir A, Devlin SM, et al. Therapy-related clonal hematopoiesis in patients with non-hematologic cancers is common and associated with adverse clinical outcomes. Cell Stem Cell. 2017;21(3):374–382.e4.
  • Saiki R, Momozawa Y, Nannya Y, et al. Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis. Nat Med. 2021;27(7):1239–1249.
  • Niroula A, Sekar A, Murakami MA, et al. Distinction of lymphoid and myeloid clonal hematopoiesis. Nat Med. 2021;27(11):1921–1927.

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