Page 1139 - Hematology_ Basic Principles and Practice ( PDFDrive )
P. 1139
Chapter 63 Myelodysplastic Syndromes and Myeloproliferative Neoplasms in Children 1004.e1
REFERENCES murine model of human t(8;21) acute myeloid leukemia. Cancer Cell
1:63, 2002.
1. Look AT: Molecular pathogenesis of MDS. Hematology Am Soc Hematol 24. Ford AM, Ridge SA, Cabrera ME, et al: In utero rearrangements in the
Educ Program 156, 2005. trithorax-related oncogene in infant leukaemias. Nature 363:358, 1993.
2. Hasle H, Kerndrup G, Jacobsen BB: Childhood myelodysplastic syn- 25. Gill Super HJ, Rothberg PG, Kobayashi H, et al: Clonal, nonconsti-
drome in Denmark: incidence and predisposing conditions. Leukemia tutional rearrangements of the MLL gene in infant twins with acute
9:1569, 1995. lymphoblastic leukemia: in utero chromosome rearrangement of
3. Hasle H, Wadsworth LD, Massing BG, et al: A population-based study 11q23. Blood 83:641, 1994.
of childhood myelodysplastic syndrome in British Columbia, Canada. 26. Megonigal MD, Rappaport EF, Jones DH, et al: t(11;22)(q23;q11.2)
Br J Haematol 106:1027, 1999. in acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a
4. Passmore SJ, Chessells JM, Kempski H, et al: Paediatric myelodys- cell division cycle gene in the genomic region of deletion in DiGeorge
plastic syndromes and juvenile myelomonocytic leukaemia in the UK: and velocardiofacial syndromes. Proc Natl Acad Sci USA 95:6413, 1998.
a population-based study of incidence and survival. Br J Haematol 27. Wiemels JL, Ford AM, Van Wering ER, et al: Protracted and variable
121:758, 2003. latency of acute lymphoblastic leukemia after TEL-AML1 gene fusion
5. Luna-Fineman S, Shannon KM, Atwater SK, et al: Myelodysplastic and in utero. Blood 94:1057, 1999.
myeloproliferative disorders of childhood: a study of 167 patients. Blood 28. Song WJ, Sullivan MG, Legare RD, et al: Haploinsufficiency of CBFA2
93:459, 1999. causes familial thrombocytopenia with propensity to develop acute
6. Sasaki H, Manabe A, Kojima S, et al: Myelodysplastic syndrome in myelogenous leukaemia. Nat Genet 23:166, 1999.
childhood: a retrospective study of 189 patients in Japan. Leukemia 29. Yoshisda K, Sanada M, Shiraishi Y, et al: Frequent pathway mutations
15:1713, 2001. of slicing machinery in myelodysplasia. Nature 478:64, 2011.
7. Strahm B, Nollke P, Zecca M, et al: Hematopoetic stem cell transplan- 30. Shih AH, Adbel-Wahab O, Patel JP, et al: The role of mutations in
tation for advanced myelodysplastic syndrome in children: results of epigenetic regulators in myeloid malignancies. Nat Rev Cancer 12:599,
the EWOG-MDS 98 study. Leukemia 25:455, 2011. 2012.
8. Head D: Classification of pediatric myelodysplastic syndrome (MDS). 31. Przychodzen B, Jerez A, Guinta K, et al: Patterns of missplicing due
American Society of Pediatric Hematology/Oncology Education Book to somatic U2AF1 mutations in myeloid neoplasms. Blood 122:999,
2004. 2013.
9. Gilliland DG: Molecular genetics of human leukemia. Leukemia 12:S7, 32. Bejar R, Steensma DP: Recent developments in myelodysplastic syn-
1998. dromes. Blood 124:2793, 2014.
10. Tefferi A, Gilliland DG: Oncogenes in myeloproliferative disorders. 33. Bejar R, Stevenson K, Abdel-Wahab O, et al: Clinical effect of point
Cell Cycle 6:550, 2007. mutation in myelodysplastic syndromes. N Engl J Med 364:2496, 2011.
11. Tefferi A, Gilliland G: Classification of chronic myeloid disorders: 34. Kulasekararaj AG, Smith AE, Mian SA, et al: TP53 mutations in
from Dameshek towards a semi-molecular system. Best Pract Res Clin myelodysplastic syndrome are strongly correlated with aberrations of
Haematol 19:365, 2006. chromosome 5, and correlate with adverse prognosis. Br J Haematol
12. Daley GQ, Van Etten RA, Baltimore D: Induction of chronic myelog- 160:660, 2013.
enous leukemia in mice by the P210bcr/abl gene of the Philadelphia 35. Volfert S, Kohlmann A, Schnittger S, et al: Association of the type of
chromosome. Science 247:824, 1990. 5q- loss with complex karyotype, clonal evolution, TP53 mutation
13. Kelliher MA, McLaughlin J, Witte ON, et al: Induction of a chronic status, and prognosis in acute myeloid leukemia and myeldysplastic
myelogenous leukemia-like syndrome in mice with v-abl and BCR/ syndrome. Genes Chromsomes Cancer 53:402, 2014.
ABL. Proc Natl Acad Sci USA 87:6649, 1990. 36. Jekic B, Novakovic I, Lukovic L, et al: Lack of TP53 and FMS gene
14. Tefferi A, Gilliland DG: JAK2 in myeloproliferative disorders is not mutations in children with myelodysplastic syndrome. Cancer Genet
just another kinase. Cell Cycle 4:1053, 2005. Cytogenet 166:163, 2006.
15. Garcia-Montero AC, Jara-Acevedo M, Teodosio C, et al: KIT mutation 37. Jekic B, Novakovic I, Ludovic L, et al: Low frequency of NRAS and
in mast cells and other bone marrow hematopoietic cell lineages in KRAS2 gene mutations in childhood myelodysplastic syndromes.
systemic mast cell disorders: a prospective study of the Spanish Network Cancer Genet Cytogenet 154:180, 2004.
on Mastocytosis (REMA) in a series of 113 patients. Blood 108:2366, 38. Hirabayashi S, Flotho C, Moetter J, et al: Spliceosomal gene aberrations
2006. are rare, coexist with oncogenic mutations, and are unlikely to exert a
16. Pardanani A, Brockman SR, Paternoster SF, et al: FIP1L1-PDGFRA driver effect in childhood MDS and JMML. Blood 119:96, 2012.
fusion: prevalence and clinicopathologic correlates in 89 consecutive 39. Glaubach T, Robinson LJ, Corey SJ: Pediatric myelodysplastic syn-
patients with moderate to severe eosinophilia. Blood 104:3038, 2004. dromes: they do exist! J Pediatr Hematol Oncol 36:1, 2014.
17. Xiao S, Nalabolu SR, Aster JC, et al: FGFR1 is fused with a novel zinc- 40. Coutinho DF, Monte-Mor BSR, Vianna DT, et al: TET2 expression
finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. level and 5-hydroxymethylation are decreased in refractory cytopenia
Nat Genet 18:84, 1998. of childhood. Leuk Res 39:1103, 2015.
18. Loh ML, Vattikuti S, Schubbert S, et al: Mutations in PTPN11 41. Owen C, Barnett M, Fitzgibbon J: Familial myelodysplasia and acute
implicate the SHP-2 phosphatase in leukemogenesis. Blood 103:2325, myeloid leukemia-a review. Br J Haematol 140:123, 2008.
2004. 42. Liew E, Owen C: Familial myelodysplastic syndromes: a review of the
19. Shannon KM, O’Connell P, Martin GA, et al: Loss of the normal NF1 literature. Haematologica 96:1536, 2011.
allele from the bone marrow of children with type 1 neurofibromatosis 43. Hahn CN, Chong CE, Carmichael CL, et al: Heritable GATA-2
and malignant myeloid disorders. N Engl J Med 330:597, 1994. mutations associated with familial myelodysplastic syndrome and acute
20. Lauchle JO, Braun BS, Loh ML, et al: Inherited predispositions and myeloid leukemia. Nat Genet 43:1012, 2012.
hyperactive Ras in myeloid leukemogenesis. Pediatr Blood Cancer 44. Steliarova-Foucher E, Stiller C, Lacour B, et al: International Classifica-
46:579, 2006. tion of Childhood Cancer, edition 3. Cancer 103:1457, 2005.
21. Crispino JD: GATA1 mutations in Down syndrome: implications for 45. Bennett JM, Catovsky D, Daniel MT, et al: Proposals for the classifica-
biology and diagnosis of children with transient myeloproliferative tion of the myelodysplastic syndromes. Br J Haematol 51:189, 1982.
disorder and acute megakaryoblastic leukemia. Pediatr Blood Cancer 46. Gattermann N, Aul C, Schneider W: Is acquired idiopathic sideroblastic
44:40, 2005. anemia (AISA) a disorder of mitochondrial DNA? Leukemia 7:2069,
22. Castilla LH, Garrett L, Adya N, et al: The fusion gene Cbfb-MYH11 1993.
blocks myeloid differentiation and predisposes mice to acute myelo- 47. Bader-Meunier B, Rotig A, Mielot F, et al: Refractory anaemia and
monocytic leukaemia. Nat Genet 23:144, 1999. mitochondrial cytopathy in childhood. Br J Haematol 87:381, 1994.
23. Higuchi M, O’Brien D, Kumaravelu P, et al: Expression of a conditional 48. Harris NL, Jaffe ES, Diebold J, et al: World Health Organization
AML1-ETO oncogene bypasses embryonic lethality and establishes a classification of neoplastic diseases of the hematopoietic and lymphoid

