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Adaptive and Maladaptive Clonal Hematopoiesis in Telomere Biology Disorders

Lasho, Terra, Patnaik, Mrinal M.·2024·Current Hematologic Malignancy Reports
DOI 10.1007/s11899-023-00719-2
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Abstract

Purpose of review Telomere biology disorders (TBDs) are germline-inherited conditions characterized by reduction in telomerase function, accelerated shortening of telomeres, predisposition to organ-failure syndromes, and increased risk of neoplasms, especially myeloid malignancies. In normal cells, critically short telomeres trigger apoptosis and/or cellular senescence. However, the evolutionary mechanism by which TBD-related telomerase-deficient cells can overcome this fitness constraint remains elusive. Recent findings Preliminary data suggests the existence of adaptive somatic mosaic states characterized by variants in TBD-related genes and maladaptive somatic mosaic states that attempt to overcome hematopoietic fitness constraints by alternative methods leading to clonal hematopoiesis. TBDs are both rare and highly heterogeneous in presentation, and the association of TBD with malignant transformation is unclear. Understanding the clonal complexity and mechanisms behind TBD-associated molecular signatures that lead to somatic adaptation in the setting of defective hematopoiesis will help inform therapy and treatment for this set of diseases.

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  1. McNally EJ, Luncsford PJ, Armanios M. Long telomeres and cancer risk: the price of cellular immortality. J Clin Invest. 2019;129(9):3474–81. · DOI
  2. Blackburn EH, Gall JG. A tandemly repeated sequence at the termini of the extrachromosomal ribosomal RNA genes in Tetrahymena. J Mol Biol. 1978;120(1):33–53. · DOI · Paper page
  3. Greider CW, Blackburn EH. Identification of a specific telomere terminal transferase activity in tetrahymena extracts. Cell. 1985;43(2, Part 1):405–13. · DOI · Paper page
  4. Blackburn EH, Greider CW, Szostak JW. Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging. Nat Med. 2006;12(10):1133–8. · DOI · Paper page
  5. O’Sullivan RJ, Karlseder J. Telomeres: protecting chromosomes against genome instability. Nat Rev Mol Cell Biol. 2010;11(3):171–81. · DOI
  6. Harley CB. Telomere loss: mitotic clock or genetic time bomb? Mutat Res/DNAging. 1991;256(2):271–82. · DOI · Paper page
  7. Greider CW. Telomerase is processive. Mol Cell Biol. 1991;11(9):4572–80.
  8. Cesare AJ, Reddel RR. Alternative lengthening of telomeres: models, mechanisms and implications. Nat Rev Genet. 2010;11(5):319–30. · DOI
  9. Hayflick L, Moorhead PS. The serial cultivation of human diploid cell strains. Exp Cell Res. 1961;25(3):585–621. · DOI · Paper page
  10. van Deursen JM. The role of senescent cells in ageing. Nature. 2014;509(7501):439–46. · DOI · Paper page
  11. Dunham MA, Neumann AA, Fasching CL, Reddel RR. Telomere maintenance by recombination in human cells. Nat Genet. 2000;26(4):447–50. · DOI · Paper page
  12. Gravekamp C, Chandra D. Aging and cancer vaccines. Crit Rev Oncog. 2013;18(6):585–95. · DOI
  13. Vulliamy TJ, Knight SW, Mason PJ, Dokal I. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis. 2001;27(2):353–7. · DOI
  14. Bertuch AA. The molecular genetics of the telomere biology disorders. RNA Biol. 2016;13(8):696–706. · DOI
  15. Savage SA, Bertuch AA. The genetics and clinical manifestations of telomere biology disorders. Genet Med. 2010;12(12):753–64. · DOI
  16. Feurstein S, Adegunsoye A, Mojsilovic D, Vij R, West DePersia AH, Rajagopal PS, et al. Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations. Blood Adv. 2020;4(19):4873–86. · DOI
  17. Mangaonkar AA, Patnaik MM. Short telomere syndromes in clinical practice: bridging bench and bedside. Mayo Clin Proc. 2018;93(7):904–16. · DOI
  18. Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA. Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica. 2012;97(3):353–9. · DOI · Paper page
  19. Blanche PA, Neelam G, Sharon AS, Philip SR. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica. 2018;103(1):30–9. · DOI
  20. Schratz KE, Haley L, Danoff SK, Blackford AL, DeZern AE, Gocke CD, et al. Cancer spectrum and outcomes in the Mendelian short telomere syndromes. Blood. 2020;135(22):1946–56. Description of the clinical outcomes of the TBD cohort assembled at Johns Hopkins. First report indicating that TBD patients present with increased CH and a different mutational signature compared to ARCH. · DOI
  21. Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica. 2018;103(1):30–9. Description of the clinical outcomes of the TBD cohort assembled by the NIH describing higher risk to develop MN and specific characteristics of these patients. · DOI
  22. Schratz KE, Armanios M. Cancer and myeloid clonal evolution in the short telomere syndromes. Curr Opin Genet Dev. 2020;60:112–8. · DOI
  23. Mitchell E, Spencer Chapman M, Williams N, Dawson KJ, Mende N, Calderbank EF, et al. Clonal dynamics of haematopoiesis across the human lifespan. Nature. 2022;606(7913):343–50. · DOI · Paper page
  24. Kusne Y, Xie Z, Patnaik MM. Clonal hematopoiesis: molecular and clinical implications. Leuk Res. 2022;113:106787. · DOI
  25. Gregory JJ Jr, Wagner JE, Verlander PC, Levran O, Batish SD, Eide CR, et al. Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells. Proc Natl Acad Sci USA. 2001;98(5):2532–7. · DOI
  26. Myers KC, Furutani E, Weller E, Siegele B, Galvin A, Arsenault V, et al. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study. Lancet Haematol. 2020;7(3):e238–46. · DOI
  27. Gutierrez-Rodrigues F, Groarke EM, Clé DV, Patel BA, Donaires FS, Spitofsky N, et al. Clonal hematopoiesis in telomere biology disorders associates with the underlying germline defect and somatic mutations in POT1, PPM1D, and TERT promoter. Blood. 2021;138(Supplement 1):1111-. Description in more detail of the somatic mutational landscape observed in the larger number of TBD patients to date. Possible association between specific somatic events and germline mutations. · DOI
  28. Ferrer A, Mangaonkar AA, Patnaik MM. Clonal hematopoiesis and myeloid neoplasms in the context of telomere biology disorders. Curr Hematol Malig Rep. 2022;17(3):61–8. · DOI · Paper page
  29. Pritzl SL, Gurney M, Badar T, Ferrer A, Lasho T, Finke C, et al. Clinical and molecular spectrum and prognostic outcomes of U2AF1 mutant clonal hematopoiesis- a prospective mayo clinic cohort study. Leuk Res. 2023;125:107007. · DOI
  30. Schratz KE, Gaysinskaya V, Cosner ZL, DeBoy EA, Xiang Z, Kasch-Semenza L, et al. Somatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders. J Clin Invest. 2021;131(18). Study of genetic rescue in the development of MDS/AML in TBD patients. · DOI
  31. Maryoung L, Yue Y, Young A, Newton CA, Barba C, van Oers NS, et al. Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations. J Clin Invest. 2017;127(3):982–6. · DOI
  32. Revy P, Kannengiesser C, Bertuch AA. Genetics of human telomere biology disorders. Nat Rev Genet. 2023;24(2):86–108. · DOI
  33. Takai H, Smogorzewska A, de Lange T. DNA damage foci at dysfunctional telomeres. Curr Biol. 2003;13(17):1549–56. · DOI · Paper page
  34. Sfeir A, de Lange T. Removal of shelterin reveals the telomere end-protection problem. Science. 2012;336(6081):593–7. · DOI
  35. Lazzerini-Denchi E, Sfeir A. Stop pulling my strings — what telomeres taught us about the DNA damage response. Nat Rev Mol Cell Biol. 2016;17(6):364–78. · DOI
  36. Kiss T, Fayet-Lebaron E, Jády BE. Box H/ACA small ribonucleoproteins. Mol Cell. 2010;37(5):597–606. · DOI
  37. Darzacq X, Kittur N, Roy S, Shav-Tal Y, Singer RH, Meier UT. Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells. J Cell Biol. 2006;173(2):207–18. · DOI
  38. Schmidt JC, Cech TR. Human telomerase: biogenesis, trafficking, recruitment, and activation. Genes Dev. 2015;29(11):1095–105. · DOI
  39. Roake CM, Artandi SE. Regulation of human telomerase in homeostasis and disease. Nat Rev Mol Cell Biol. 2020;21(7):384–97. · DOI
  40. Bodnar AG, Ouellette M, Frolkis M, Holt SE, Chiu CP, Morin GB, et al. Extension of life-span by introduction of telomerase into normal human cells. Science. 1998;279(5349):349–52. · DOI · Paper page
  41. Chiba K, Lorbeer FK, Shain AH, McSwiggen DT, Schruf E, Oh A, et al. Mutations in the promoter of the telomerase gene TERT contribute to tumorigenesis by a two-step mechanism. Science. 2017;357(6358):1416–20. · DOI
  42. Gutierrez-Rodrigues F, Donaires FS, Pinto A, Vicente A, Dillon LW, Clé DV, et al. Pathogenic TERT promoter variants in telomere diseases. Genet Med. 2019;21(7):1594–602. · DOI
  43. Du H-Y, Pumbo E, Manley P, Field JJ, Bayliss SJ, Wilson DB, et al. Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Blood. 2008;111(3):1128–30. · DOI
  44. Aspesi A, Vallero S, Rocci A, Pavesi E, Lanciotti M, Ramenghi U, et al. Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia. Pediatr Blood Cancer. 2010;55(3):550–3. · DOI
  45. Gramatges MM, Qi X, Sasa GS, Chen JJL, Bertuch AA. A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. Blood. 2013;121(18):3586–93. · DOI
  46. Niaz A, Truong J, Manoleras A, Fox LC, Blombery P, Vasireddy RS, et al. Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder. Blood Adv. 2022;6(12):3779–91. · DOI
  47. Çepni E, Satkın NB, Moheb LA, Rocha ME, Kayserili H. Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings. Am J Med Genet A. 2022;188(4):1226–32. · DOI
  48. Stockklausner C, Raffel S, Klermund J, Bandapalli OR, Beier F, Brümmendorf TH, et al. A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition. Aging (Albany NY). 2015;7(11):911. · DOI
  49. Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, et al. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood. 2007;110(13):4198–205. · DOI
  50. Nguyen THD, Tam J, Wu RA, Greber BJ, Toso D, Nogales E, et al. Cryo-EM structure of substrate-bound human telomerase holoenzyme. Nature. 2018;557(7704):190–5. · DOI
  51. Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Human Genet. 1999;65(1):50–8. · DOI
  52. Benyelles M, O’Donohue M-F, Kermasson L, Lainey E, Borie R, Lagresle-Peyrou C, et al. NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome. Hum Mol Genet. 2020;29(6):907–22. · DOI
  53. Palm W, de Lange T. How shelterin protects mammalian telomeres. Annu Rev Genet. 2008;42:301–34. · DOI · Paper page
  54. Harel I, Benayoun BA, Machado B, Singh PP, Hu CK, Pech MF, et al. A platform for rapid exploration of aging and diseases in a naturally short-lived vertebrate. Cell. 2015;160(5):1013–26. · DOI · Paper page
  55. Meier B, Clejan I, Liu Y, Lowden M, Gartner A, Hodgkin J, et al. trt-1 is the Caenorhabditis elegans catalytic subunit of telomerase. PLoS Genet. 2006;2(2): e18. · DOI
  56. Blasco MA, Lee H-W, Hande MP, Samper E, Lansdorp PM, DePinho RA, et al. Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell. 1997;91(1):25–34. · DOI · Paper page
  57. Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, et al. Disease progression and clinical outcomes in telomere biology disorders. Blood. 2022;139(12):1807–19. · DOI
  58. Alder JK, Armanios M. Telomere-mediated lung disease. Physiol Rev. 2022;102(4):1703–20. · DOI · Paper page
  59. Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol. 2009;145(2):164–72. · DOI
  60. Armanios M. The role of telomeres in human disease. Annu Rev Genomics Hum Genet. 2022;23:363–81. · DOI
  61. Knight S, Vulliamy T, Copplestone A, Gluckman E, Mason P, Dokal I. Dyskeratosis Congenita (DC) Registry: identification of new features of DC. Br J Haematol. 1998;103(4):990–6. · DOI
  62. Takai H, Jenkinson E, Kabir S, Babul-Hirji R, Najm-Tehrani N, Chitayat DA, et al. A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus. Genes Dev. 2016;30(7):812–26. · DOI
  63. Kermasson L, Churikov D, Awad A, Smoom R, Lainey E, Touzot F, et al. Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects. Blood. 2022;139(16):2427–40. · DOI
  64. Polvi A, Linnankivi T, Kivelä T, Herva R, Keating James P, Mäkitie O, et al. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Human Genet. 2012;90(3):540–9. · DOI
  65. Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, et al. Mutations in STN1 cause coats plus syndrome and are associated with genomic and telomere defects. J Exp Med. 2016;213(8):1429–40. · DOI
  66. Holme H, Hossain U, Kirwan M, Walne A, Vulliamy T, Dokal I. Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. Br J Haematol. 2012;158(2):242–8. · DOI
  67. Furutani E, Shimamura A. Genetic predisposition to MDS: diagnosis and management. Hematol Am Soc Hematol Educ Program. 2019;2019(1):110–9. · DOI
  68. Beerman I. Accumulation of DNA damage in the aged hematopoietic stem cell compartment. Semin Hematol. 2017;54(1):12–8. · DOI
  69. Mollica L, Fleury I, Belisle C, Provost S, Roy DC, Busque L. No association between telomere length and blood cell counts in elderly individuals. J Gerontol A Biol Sci Med Sci. 2009;64(9):965–7. · DOI
  70. Kramer A, Challen GA. The epigenetic basis of hematopoietic stem cell aging. Semin Hematol. 2017;54(1):19–24. · DOI
  71. Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122(22):3616–27. · DOI · Paper page
  72. Kaner J, Desai P, Mencia-Trinchant N, Guzman ML, Roboz GJ, Hassane DC. Clonal Hematopoiesis and Premalignant Diseases. Cold Spring Harb Perspect Med. 2020;10(4):a035675. · DOI
  73. Mitchell SR, Gopakumar J, Jaiswal S. Insights into clonal hematopoiesis and its relation to cancer risk. Curr Opin Genet Dev. 2021;66:63–9. · DOI
  74. Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371(26):2488–98. · DOI · Paper page
  75. Ferrer A, Lasho T, Fernandez JA, Steinauer NP, Simon RA, Finke CM, et al. Patients with telomere biology disorders show context specific somatic mosaic states with high frequency of U2AF1 variants. Am J Hematol. 2023;98(12):E357–9. · DOI
  76. Revy P, Kannengiesser C, Fischer A. Somatic genetic rescue in Mendelian haematopoietic diseases. Nat Rev Genet. 2019;20(10):582–98. · DOI
  77. Revy P, Kannengiesser C, Fischer A. Somatic genetic rescue in Mendelian haematopoietic diseases. Nat Rev Genet. 2019;20(10):582–98. · DOI
  78. Tsai FD, Lindsley RC. Clonal hematopoiesis in the inherited bone marrow failure syndromes. Blood. 2020;136(14):1615–22.
  79. Perdigones N, Perin JC, Schiano I, Nicholas P, Biegel JA, Mason PJ, et al. Clonal hematopoiesis in patients with dyskeratosis congenita. Am J Hematol. 2016;91(12):1227–33. · DOI
  80. Mangaonkar AA, Ferrer A, Pinto EVF, Cousin MA, Kuisle RJ, Klee EW, et al. Clinical correlates and treatment outcomes for patients with short telomere syndromes. Mayo Clin Proc. 2018;93(7):834–9. · DOI
  81. Lee M, Roos P, Sharma N, Atalar M, Evans TA, Pellicore MJ, et al. Systematic computational identification of variants that activate exonic and intronic cryptic splice sites. Am J Human Genet. 2017;100(5):751–65. · DOI
  82. Marioni RE, Shah S, McRae AF, Chen BH, Colicino E, Harris SE, et al. DNA methylation age of blood predicts all-cause mortality in later life. Genome Biol. 2015;16(1):25. · DOI · Paper page

Cited by

Metadata

Authors
Lasho, T., & Patnaik, M. M.
Venue
Current Hematologic Malignancy Reports
Publisher
Springer Science and Business Media LLC
Published
2023-12-14
Volume
19
Issue
1
Pages
35-44
ISSN
  • 1558-8211
  • 1558-822X
DOI
10.1007/s11899-023-00719-2
Cited by
7
References
29
Language
en
Licence

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