Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

New England Journal of Medicine

Volumn 371, Issue 26, 2014, Pages 2477-2487

  Genovese, Giulio ^a,b,d   Kähler, Anna K ^f   Handsaker, Robert E ^a,b,d   Lindberg, Johan ^f,g   Rose, Samuel A ^a,b,d   Bakhoum, Samuel F ^k   Chambert, Kimberly ^a   Mick, Eran ^d   Neale, Benjamin M ^a,e   Fromer, Menachem ^l   Purcell, Shaun M ^l   Svantesson, Oscar ^f   Landén, Mikael ⁱ   Höglund, Martin ^j   Lehmann, Sören ^h   Gabriel, Stacey B ^c   Moran, Jennifer L ^a   Lander, Eric S ^c   Sullivan, Patrick F ^f,m   Sklar, Pamela ^l   Grönberg, Henrik ^f   Hultman, Christina M ^f   McCarroll, Steven A ^a   more..

^a Stanley Center for Psychiatric Research   (United States)

^b Program in Medical and Population Genetics   (United States)

^c MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f Department of Medical Epidemiology and Biostatistics ^*  (Sweden)

^g KAROLINSKA INSTITUTE   (Sweden)

^h KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

ⁱ UNIVERSITY OF GOTHENBURG   (Sweden)

^j UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^k MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^l MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^m UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE 3A;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGE; AGED; ARTICLE; ASXL1 GENE; BONE MARROW BIOPSY; CANCER MORTALITY; CANCER RISK; CLONAL HEMATOPOIESIS; CLONAL VARIATION; DNA SEQUENCE; DNMT3A GENE; EXOME; FEMALE; GENE; HEMATOLOGIC MALIGNANCY; HEMATOPOIESIS; HUMAN; MALE; MISSENSE MUTATION; OVERALL SURVIVAL; SOMATIC MUTATION; TET2 GENE; BLOOD; CELL CLONE; CELL TRANSFORMATION; GENETICS; HEMATOLOGIC DISEASE; HEMATOPOIETIC STEM CELL; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHYSIOLOGY; RISK FACTOR; VERY ELDERLY; YOUNG ADULT;

ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; BLOOD; CELL TRANSFORMATION, NEOPLASTIC; CLONE CELLS; DNA MUTATIONAL ANALYSIS; EXOME; HEMATOLOGIC NEOPLASMS; HEMATOPOIESIS; HEMATOPOIETIC STEM CELLS; HUMANS; MIDDLE AGED; MUTATION; RISK FACTORS; YOUNG ADULT;

EID: 84920024296     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1409405     Document Type: Article

References (40)

1. Nowell PC. The clonal evolution of tumor cell populations. Science 1976; 194: 23-8.
2. Reya T, Morrison SJ, Clarke MF, Weissman IL. Stem cells, cancer, and cancer stem cells. Nature 2001; 414: 105-11.
3. Jamieson CHM, Gotlib J, Durocher JA, et al. The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. Proc Natl Acad Sci U S A 2006; 103: 6224-9.
4. Jaiswal S, Ebert BL. MDS is a stem cell disorder after all. Cancer Cell 2014; 25: 713-4.
5. Potter NE, Greaves M. Cancer: persistence of leukaemic ancestors. Nature 2014; 506: 300-1.
6. Vasanthakumar A, Godley LA. On the origin of leukemic species. Cell Stem Cell 2014; 14: 421-2.
7. Damm F, Mylonas E, Cosson A, et al. Acquired initiating mutations in early hematopoietic cells of CLL patients. Cancer Discov 2014; 9: 1088-101.
8. Ding L, Ley TJ, Larson DE, et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature 2012; 481: 506-10.
9. Shlush LI, Zandi S, Mitchell A, et al. Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia. Nature 2014; 506: 328-33.
10. Corces-Zimmerman MR, Hong W-J, Weissman IL, Medeiros BC, Majeti R. Preleukemic mutations in human acute myeloid leukemia affect epigenetic regulators and persist in remission. Proc Natl Acad Sci U S A 2014; 111: 2548-53.
11. Forsberg LA, Rasi C, Razzaghian HR, et al. Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet 2012; 90: 217-28.
12. Laurie CC, Laurie CA, Rice K, et al. Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet 2012; 44: 642-50.
13. Jacobs KB, Yeager M, Zhou W, et al. Detectable clonal mosaicism and its relationship to aging and cancer. Nat Genet 2012; 44: 651-8.
14. Schick UM, McDavid A, Crane PK, et al. Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer. PLoS One 2013; 8(3): e59823.
15. Forsberg LA, Rasi C, Malmqvist N, et al. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat Genet 2014; 46: 624-8.
16. Busque L, Mio R, Mattioli J, et al. Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. Blood 1996; 88: 59-65.
17. Ripke S, O'Dushlaine C, Chambert K, et al. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet 2013; 45: 1150-9.
18. Purcell SM, Moran JL, Fromer M, et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature 2014; 506: 185-90.
19. Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med 2010; 363: 2424-33.
20. Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009; 360: 2289-301.
21. Gelsi-Boyer V, Trouplin V, Adéla.de J, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol 2009; 145: 788-800.
22. Shih AH, Abdel-Wahab O, Patel JP, Levine RL. The role of mutations in epigenetic regulators in myeloid malignancies. Nat Rev Cancer 2012; 12: 599-612.
23. Chuman Y, Kurihashi W, Mizukami Y, Nashimoto T, Yagi H, Sakaguchi K. PPM1D430, a novel alternative splicing variant of the human PPM1D, can dephosphorylate p53 and exhibits specific tissue expression. J Biochem 2009; 145: 1-12.
24. Ruark E, Snape K, Humburg P, et al. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature 2013; 493: 406-10.
25. Kleiblova P, Shaltiel IA, Benada J, et al. Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint. J Cell Biol 2013; 201: 511-21.
26. Akbari MR, Lepage P, Rosen B, et al. PPM1D mutations in circulating white blood cells and the risk for ovarian cancer. J Natl Cancer Inst 2014; 106: djt323.
27. Zhang L, Chen LH, Wan H, et al. Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas. Nat Genet 2014; 46: 726-30.
28. The Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 2013; 368: 2059-74. [Erratum, N Engl J Med 2013; 369: 98.]
29. Lawrence MS, Stojanov P, Mermel CH, et al. Discovery and saturation analysis of cancer genes across 21 tumour types. Nature 2014; 505: 495-501.
30. Forbes SA, Bindal N, Bamford S, et al. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res 2011; 39: D945-D950.
31. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779-90.
32. Russler-Germain DA, Spencer DH, Young MA, et al. The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers. Cancer Cell 2014; 25: 442-54.
33. Papaemmanuil E, Cazzola M, Boultwood J, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med 2011; 365: 1384-95.
34. Campbell IM, Yuan B, Robberecht C, et al. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet 2014; 95: 173-82.
35. Chen T-C, Hou HA, Chou WC, et al. Dynamics of ASXL1 mutation and other associated genetic alterations during disease progression in patients with primary myelodysplastic syndrome. Blood Cancer J 2014; 4: e177.
36. Fasan A, Haferlach C, Alpermann T, et al. The role of different genetic subtypes of CEBPA mutated AML. Leukemia 2014; 28: 794-803.
37. Martelli MP, Sportoletti P, Tiacci E, Martelli MF, Falini B. Mutational land-scape of AML with normal cytogenetics: biological and clinical implications. Blood Rev 2013; 27: 13-22.
38. Kulasekararaj AG, Smith AE, Mian SA, et al. TP53 mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis. Br J Haematol 2013; 160: 660-72.
39. Challen GA, Sun D, Jeong M, et al. Dnmt3a is essential for hematopoietic stem cell differentiation. Nat Genet 2012; 44: 23-31.
40. Busque L, Patel JP, Figueroa ME, et al. Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis. Nat Genet 2012; 44: 1179-81.