Page 1441 - Williams Hematology ( PDFDrive )
P. 1441

1416           Part X:  Malignant Myeloid Diseases                                                                                                                           Chapter 88:  Acute Myelogenous Leukemia             1417




                 36.  Willems E, Valdes-Socin H, Betea D, et al: Association of acute leukemia and autoim-    69.  Fokin AA, Robicsek F: Poland’s syndrome revisited.  Ann Thorac Surg 74:2218,
                   mune polyendocrine syndrome in two kindreds. Leukemia 17:1912, 2003.  2002.
                 37.  Lichtenstein P, Holm NV, Verkasalo PK, et al: Environmental and hereditable factors     70.  Pianigiani E, DeAloe G, Andreassi A, et al: Rothmund-Thomson syndrome (Thom-
                   in causation of cancer—Analyses of cohorts of twins from Sweden, Denmark, and   son type) and myelodysplasia. Pediatr Dermatol 18:422, 2001.
                   Finland. N Engl J Med 343:78, 2000.                  71.  Duker NJ: Chromosome breakage syndromes and cancer. Am J Med Genet 115:125,
                 38.  Risch N: The genetic epidemiology of cancer. Interpreting family and twin studies and   2002.
                   their  implications  for  molecular  genetic  approaches.  Cancer Epidemiol Biomarkers     72.  Hayani A, Suarez CR, Molnar Z, et al: Acute myeloid leukemia in a patient with Seckel
                   Prev 10:733, 2001.                                     syndrome. J Med Genet 31:148, 1994.
                 39.  Hemminki K, Vaittinen P, Dong C, Easton D: Sibling risks in cancer: Clues to recessive     73.  Boocock GR, Morrison JA, Popovic M, et al: Mutations in SBDS are associated with
                   or X-linked genes? Br J Cancer 84:388, 2001.           Shwachman-Diamond syndrome. Nat Genet 33:97, 2003.
                 40.  Germeshausen M, Ballmaier M, Welte K: Implications of mutations in hematopoietic     74.  Rujkijyanont P, Beyene J, Wei K, et al: Leukaemia-related gene expression in bone
                   growth factor receptor genes in congenital cytopenias. Ann N Y Acad Sci 938:305, 2001.  marrow cells from  patients with  the preleukaemic  disorder  Shwachman-Diamond
                 41.  Tonelli R, Scardovi AL, Pession A, et al: Compound heterozygosity for two different   syndrome. Br J Haematol 137:537, 2007.
                   amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in     75.  Mitsui T, Kawakami T, Sendo D, et al: Successful unrelated donor bone marrow trans-
                   congenital amegakaryocytic thrombocytopenia (CAMT). Hum Genet 107:225, 2000.  plantation for Shwachman-Diamond syndrome with leukemia. Int J Hematol 79:189,
                 42.  Li FP, Hecht F, Kaiser-McCaw B, et al: Ataxia-pancytopenia: Syndrome of cerebellar   2004.
                   ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia. Cancer     76.  Yamada T, Tsurumi H, Murakami N, et al: Werner’s syndrome developing acute
                   Genet Cytogenet 4:189, 1981.                           megakaryoblastic leukemia with der(1;7). Rinsho Ketsueki 38:28, 1997.
                 43.  Gonzales-del Angel A, Cervera M, Gomez L, et al: Ataxia-pancytopenia syndrome.     77.  Tao LC, Stecker E, Gardner HA: Werner’s syndrome and acute myeloid leukemia.
                   Am J Med Genet 90:252, 2000.                           CMAJ 105:951, 1971.
                 44.  German J: Bloom’s syndrome: Incidence, age of onset, and types of leukemia in the     78.  Muftuoglu M, Oshima J, von Kobbe C, et al: The clinical characteristics of Werner
                   Bloom’s syndrome registry, in Genetics in Hematologic Disorders, edited by Bartsocas   syndrome: Molecular and biochemical diagnosis. Hum Genet 124:369, 2008.
                   CS, Loukopoulos D, p 241. Hemisphere, Washington, 1992.    79.  Sharathkumar A, Kirby M, Freedman M, et al: Malignant hematological disorders in
                 45.  Poppe B, Van Limbergen H, Van Roy N, et al: Chromosomal aberrations in Bloom   children with Wolf-Hirschhorn syndrome. Am J Med Genet 119A:194, 2003.
                   syndrome patients with myeloid malignancies. Cancer Genet Cytogenet 128:39, 2001.    80.  Gonzalez CH, Durkin-Stamm MV, Geimer NF, et al: The WT syndrome—A “new”
                 46.  Freedman MH, Alter BP: Risk of myelodysplastic syndrome and acute myeloid leuke-  autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of
                   mia in congenital neutropenia. Semin Hematol 39:128, 2002.  bone marrow failure and/or leukemia. Birth Defects Orig Artic Ser 13:31, 1977.
                 47.  Aprikyan AA, Kutyavin T, Stein S, et al: Cellular and molecular abnormalities in     81.  Kristinsson SY, Bjorkholm M, Hultcrantz M, et al: Chronic immune stimulation
                   severe congenital neutropenia predisposing to leukemia. Exp Hematol 31:372, 2003.  might act as a trigger for the development of acute myeloid leukemia or myelodys-
                 48.  Rosenberg PS, Alter BP, Link DC, et al: Neutrophil elastase mutations and risk of   plastic syndromes. J Clin Oncol 29: 2897, 2011.
                   leukaemia in severe congenital neutropenia. Br J Haematol 140:210, 2008.    82.  Wu SP, Costello R, Hofmann JN, et al: MGUS prevalence in a cohort of AML patients.
                 49.  Link DC, Kunter G, Kasai Y, et al: Distinct patterns of mutations occurring in de   Blood 122:294, 2013.
                   novo AML versus AML arising in the setting of severe congenital neutropenia. Blood     83.  Fialkow PH, Singer JW, Adamson JW, et al: Acute nonlymphocytic leukemia. Hetero-
                   110:1648, 2007.                                        geneity of stem cell origin. Blood 57:1068, 1991.
                 50.  Shinawi M, Erez A, Shardy DL, et al: Syndromic thrombocytopenia and predisposi-    84.  Ferraris AM, Broccia G, Meloni T, et al: Clonal origin of cells restricted to monocytic
                   tion to acute myelogenous leukemia caused by constitutional microdeletions on chro-  differentiation in acute nonlymphocytic leukemia. Blood 64:817, 1984.
                   mosome 21q. Blood 112:1042, 2008.                    85.  Turhan AG, Lemoire FB, Debert C, et al: Highly purified primitive hematopoietic
                 51.  Janov AJ, Leong T, Nathan DG, Guinan EC: Diamond-Blackfan anemia: Natural     stem cells are PML-RARA negative and generate nonclonal progenitors in acute pro-
                   history and sequelae of treatment. Medicine (Baltimore) 75:77, 1996.  myelocytic leukemia. Blood 85:2154, 1995.
                 52.  Vlachos A, Klein G, Lipton J: The Blackfan-Diamond anemia registry: Tool for inves-    86.  Van Lom K, Hagenmeijer A, Vandekerckhove F, et al: Clonality analysis of hemato-
                   tigating the epidemiology and biology of Diamond-Blackfan anemia. Pediatr Hematol   poietic cell lineages in acute myeloid leukemia and translocation (8;21): Only myeloid
                   Oncol 23:377, 2001.                                    cells are part of malignant clone. Leukemia 11:202, 1997.
                 53.  Forestier E, Izraeli S, Beverloo B, et al: Cytogenetic features of acute lymphoblastic and     87.  Goardon N, Marchi E, Atzberger A, et al: Coexistence of LMPP-like and GMP-like
                   myeloid leukemias in pediatric patients with Down syndrome: An iBFM-SG study.   leukemia stem cells in acute myeloid leukemia. Cancer Cell 19:138, 2011.
                   Blood 111:1575, 2008.                                88.  Majeti R, Weissman IL: Human acute myelogenous leukemia stem cells revisited:
                 54.  Puumala SE, Ross JA, Olshan AF, et al: Reproductive history, infertility treatment,   There’s more than meets the eye. Cancer Cell 19:9, 2011.
                   and the risk of acute leukemia in children with down syndrome: A report from the     89.  Pandolfi A, Barreyro L, Steidl U: Concise review: Preleukemic stem cells: Molecular
                   Children’s Oncology Group. Cancer 110:2067, 2007.      biology and clinical implications of the precursors to leukemia stem cells. Stem Cells
                 55.  Andrade-Machado R, Machado-Rojas A, de la Torre-Santos ME: Dubowitz syn-  Transl Med 2:143, 2013.
                   drome, polymyositis, and aleucemic myeloblastic leukemia. A new association. Rev     90.  Jan M, Snyder TM, Ryan M, et al: Clonal evolution of preleukemic hematopoietic
                   Neurol 35:500, 2001.                                   stem cells precedes human acute myeloid leukemia. Sci Transl Med 149:149ra118,
                 56.  Savage SA, Alter BP: The role of telomere biology in bone marrow failure and other   2012.
                   disorders. Mech Ageing Dev 129:35, 2008.             91.  Shlush LI, Zandi S, Mitchell A, et al: Identification of pre-leukaemic haematopoietic
                 57.  Röth A, Baerlocher GM: Dyskeratosis congenita. Br J Haematol 141:412, 2008.  stem cells in acute leukaemia. Nature 506:328, 2014.
                 58.  Segel GB, Lichtman MA: Familial (inherited) leukemia, lymphoma, and myeloma.     92.  Chan SM, Majeti R: Role of DNMT3A, TET2, and IDH-1/2 mutations in pre-leukemic
                   Blood Cells Mol Dis 32:246, 2004.                      stem cells in acute myeloid leukemia. Int J Hematol 98:648, 2013.
                 59.  Owen CJ, Toze CL, Koochin A, et al: Five new pedigrees with inherited RUNX1 muta-    93.  Welch JS, Ley TJ, Link DC, et al: The origin and evolution of mutations in acute mye-
                   tions causing familial platelet disorder with propensity to myeloid malignancy (FPD/  loid leukemia. Cell 150:264, 2012.
                   AML). Blood 112:4639, 2008.                          94.  Parkin B, Ouillette P, Li Y, et al: Clonal evolution and devolution after chemotherapy
                 60.  Minelli A, Maserati E, Rossi G, et al: Familial platelet disorder with propensity to acute   in adult acute myelogenous leukemia. Blood 121:369, 2013.
                   myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acqui-    95.  Swiggers SJJ, Kuijpers MA, de Cort MJM, et al: Critically short telomeres in acute
                   sition of clonal chromosome anomalies. Genes Chromosomes Cancer 40:165, 2004.  myeloid leukemia with loss or gain of parts of chromosomes. Genes Chromosomes
                 61.  Rosenberg PS, Greene MH, Alter BP: Cancer incidence in persons with Fanconi ane-  Cancer 45:247, 2006.
                   mia. Blood 101:822, 2003.                            96.  Yamada O, Oshimi K, Motoji, et al: Telomeric DNA in normal and leukemic blood
                 62.  Rosenberg PS, Alter BP, Ebell W: Cancer risks in Fanconi anemia: Findings from the   cells. J Clin Invest 95:1117, 1995.
                   German Fanconi Anemia Registry. Haematologica 93:511, 2008.    97.  Look AT: Oncogene transcription factors in human acute leukemias. Science 278:1059,
                 63.  Dickinson RE, Milne P, Jardine L, et al: The evolution of cellular deficiency in GATA2   1997.
                   mutation. Blood 123:863, 2014.                       98.  Pabst T, Mueller BU: Transcriptional dysregulation during myeloid transformation in
                 64.  Polychronopoulou S, Tsatsopoulou A, Papadhimitriou SI, et al: Myelodysplasia and   AML. Oncogene 26:6829, 2007.
                   Naxos disease: A novel pathogenetic association? Leukemia 16:2335, 2002.    99.  Kelly LM, Gilliland DG: Genetics of myeloid leukemias. Annu Rev Genomics Hum
                 65.  Kratz CP, Antonietti L, Shannon KM, et al: Acute myeloid leukemia associated with   Genet 3:179, 2002.
                   t(8;21) or trisomy 8 in children with neurofibromatosis type 1. Pediatr Hematol Oncol     100.  Damm F, Heuser M, Morgan M, et al: Integrative prognostic risk score in acute mye-
                   25:343, 2003.                                          loid leukemia with normal karyotype. Blood 117:4561, 2011.
                 66.  Lurgaespada DA, Brannan CI, Shaughnessy JD, et al: The neurofibromatosis type 1     101.  Pastore F, Duforu A, Benthaus T, et al: Combined molecular and clinical prognostic
                   (NF1) tumor suppressor gene and myeloid leukemia. Curr Top Microbiol Immunol   index for relapse and survival in cytogenetically normal acute myeloid leukemia.
                   211:233, 1996.                                         J Clin Oncol 32:1586, 2014.
                 67.  Bader-Meunier B, Tchernia G, Miélot F, et al: Occurrence of myeloproliferative disor-    102.  Li  Z,  Herold  T,  He  C,  et  al:  Identification  of  a  24-gene  prognostic  signature  that
                   der in patients with Noonan syndrome. J Pediatr 130:885, 1997.  improves the European Leukemia Net risk classification of acute myeloid leukemia:
                 68.  Bentires-Alj M, Paez JG, David FS, et al: Activating mutations of the Noonan    An international collaborative study. J Clin Oncol 31:1172, 2013.
                   syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute     103.  Marcucci G, Yan P, Maharry K, et al: Epigenetics meets genetics in acute myeloid
                   myelogenous leukemia. Cancer Res 64:8816,2004.         leukemia: Clinical impact of a novel seven-gene score. J Clin Oncol 32:548, 2013.





          Kaushansky_chapter 88_p1373-1436.indd   1416                                                                  9/21/15   11:02 AM
   1436   1437   1438   1439   1440   1441   1442   1443   1444   1445   1446