Pathogenic Mechanisms in Acute Myeloid Leukemia

Dohner H, Weisdorf DJ, Bloomfield CD. Acute myeloid leukemia. N Engl J Med. 2015;373(12):1136–52.

PubMed  Article  CAS  Google Scholar 

Dohner H, Estey E, Grimwade D, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017;129(4):424–47.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Mardis ER, Ding L, Dooling DJ, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med. 2009;361(11):1058–66.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Porter CC. Germ line mutations associated with leukemias. Hematology Am Soc Hematol Educ Program. 2016;2016(1):302–8.

PubMed  PubMed Central  Article  Google Scholar 

Sison EA, Brown P. The bone marrow microenvironment and leukemia: biology and therapeutic targeting. Expert Rev Hematol. 2011;4(3):271–83.

PubMed  PubMed Central  Article  CAS  Google Scholar 

DiNardo CD, Cortes JE. Mutations in AML: prognostic and therapeutic implications. Hematology Am Soc Hematol Educ Program. 2016;2016(1):348–55.

PubMed  PubMed Central  Article  Google Scholar 

Frohling S, Scholl C, Gilliland DG, Levine RL. Genetics of myeloid malignancies: pathogenetic and clinical implications. J Clin Oncol. 2005;23(26):6285–95.

PubMed  Article  CAS  Google Scholar 

Papaemmanuil E, Gerstung M, Bullinger L, et al. Genomic classification and prognosis in acute myeloid leukemia. N Engl J Med. 2016;374(23):2209–21.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Weissman I. Stem cell research: paths to cancer therapies and regenerative medicine. JAMA. 2005;294(11):1359–66.

PubMed  Article  CAS  Google Scholar 

Jan M, Snyder TM, Corces-Zimmerman MR, et al. Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia. Sci Transl Med. 2012;4(149):149ra118.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Corces MR, Buenrostro JD, Wu B, et al. Lineage-specific and single-cell chromatin accessibility charts human hematopoiesis and leukemia evolution. Nat Genet. 2016;48(10):1193–203.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Challen GA, Sun D, Jeong M, et al. Dnmt3a is essential for hematopoietic stem cell differentiation. Nat Genet. 2011;44(1):23–31.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Moran-Crusio K, Reavie L, Shih A, et al. Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation. Cancer Cell. 2011;20(1):11–24.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Sasaki M, Knobbe CB, Munger JC, et al. IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics. Nature. 2012;488(7413):656–9.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Avagyan S, Henninger JE, Mannherz WP, et al. Resistance to inflammation underlies enhanced fitness in clonal hematopoiesis. Science. 2021;374(6568):768–772. Demonstrates inflammation as a critical driver of clonal fitness and survival.

King KY, Goodell MA. Inflammatory modulation of HSCs: viewing the HSC as a foundation for the immune response. Nat Rev Immunol. 2011;11(10):685–92.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Jaiswal S, Ebert BL. Clonal hematopoiesis in human aging and disease. Science. 2019;366(6465). Excellent summary of the molecular mechanisms driving clonal hematopoiesis.

Steensma DP. Clinical consequences of clonal hematopoiesis of indeterminate potential. Blood Adv. 2018;2(22):3404–3410. Excellent summary of the causes and clinical consequences of clonal hematopoiesis.

Bouzid H, Belk J, Jan M, Qi Y, Sarnowski C, Wirth S, Ma L, Chrostek M, Ahmad H, Nachun D, Yao W, Beiser A, Bick AG, Bis J, Fornage M, Longstreth WT, Lopez O, Nataranjan P, Psaty B, Satizabal C, Weinstock J, Larson E, Crane P, Keene CD, Seshadri S, Satpathy AT, Montine T, Jaiswal S. Clonal hematopoiesis is associated with reduced risk of Alzheimer’s disease. Blood. 2021; (1): 5.

Chen J, Kao YR, Sun D, et al. Myelodysplastic syndrome progression to acute myeloid leukemia at the stem cell level. Nat Med. 2019;25(1):103–110. Demonstrates parallel clonal evolution of mutant MDS clones into leukemic clones.

Strickland SA, Vey N. Diagnosis and treatment of therapy-related acute myeloid leukemia. Crit Rev Oncol Hematol. 2022;171:103607.

PubMed  Article  Google Scholar 

Sperling AS, Guerra VA, Kennedy JA, et al. Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms. Blood. 2022. https://doi.org/10.1182/blood.2021014956. Elucidates a therapy-specific molecular mechanism driving clonal selection and development of therapy-related AML/MDS.

Lindsley RC, Mar BG, Mazzola E, et al. Acute myeloid leukemia ontogeny is defined by distinct somatic mutations. Blood. 2015;125(9):1367–76.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Weinberg OK, Siddon A, Madanat YF, et al. TP53 mutation defines a unique subgroup within complex karyotype de novo and therapy-related MDS/AML. Blood Adv. 2022;6(9):2847–2853. Highlights the need to revise the classification scheme of myeloid malignancies for better clinical management of disease.

Roberts I, Izraeli S. Haematopoietic development and leukaemia in Down syndrome. Br J Haematol. 2014;167(5):587–99.

PubMed  Article  CAS  Google Scholar 

Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood. 2009;113(26):6549–57.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Niemeyer CM. RAS diseases in children. Haematologica. 2014;99(11):1653–62.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Chang TY, Dvorak CC, Loh ML. Bedside to bench in juvenile myelomonocytic leukemia: insights into leukemogenesis from a rare pediatric leukemia. Blood. 2014;124(16):2487–97.

PubMed  Article  CAS  Google Scholar 

Spinner MA, Sanchez LA, Hsu AP, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809–21.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Latger-Cannard V, Philippe C, Bouquet A, et al. Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders. Orphanet J Rare Dis. 2016;11:49.

PubMed  PubMed Central  Article  Google Scholar 

Churpek JE, Garcia JS, Madzo J, Jackson SA, Onel K, Godley LA. Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder. Leuk Lymphoma. 2010;51(10):1931–5.

PubMed  Article  CAS  Google Scholar 

Noris P, Perrotta S, Seri M, et al. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood. 2011;117(24):6673–80.

PubMed  Article  CAS  Google Scholar 

Zhang MY, Churpek JE, Keel SB, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015;47(2):180–5.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Moriyama T, Metzger ML, Wu G, et al. Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. Lancet Oncol. 2015;16(16):1659–66.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Tawana K, Wang J, Renneville A, et al. Disease evolution and outcomes in familial AML with germline CEBPA mutations. Blood. 2015;126(10):1214–23.

PubMed  Article  CAS  Google Scholar 

Cardoso SR, Ryan G, Walne AJ, et al. Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia. Leukemia. 2016;30(10):2083–6.

PubMed  PubMed Central  Article  CAS  Google Scholar 

McBride KA, Ballinger ML, Killick E, et al. Li-Fraumeni syndrome: cancer risk assessment and clinical management. Nat Rev Clin Oncol. 2014;11(5):260–71.

PubMed  Article  CAS  Google Scholar 

Meyer C, Burmeister T, Groger D, et al. The MLL recombinome of acute leukemias in 2017. Leukemia. 2018;32(2):273–84.

PubMed  Article  CAS  Google Scholar 

Giles RH, Dauwerse JG, Higgins C, et al. Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16). Leukemia. 1997;11(12):2087–96.

PubMed  Article  CAS  Google Scholar 

Friedman AD. Leukemogenesis by CBF oncoproteins. Leukemia. 1999;13(12):1932–42.

PubMed  Article  CAS  Google Scholar 

Castilla LH, Perrat P, Martinez NJ, et al. Identification of genes that synergize with Cbfb-MYH11 in the pathogenesis of acute myeloid leukemia. Proc Natl Acad Sci U S A. 2004;101(14):4924–9.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363(25):2424–33.

留言 (0)

沒有登入
gif