Page 1167 - Hematology_ Basic Principles and Practice ( PDFDrive )
P. 1167
Chapter 64 Pathobiology of Acute Lymphoblastic Leukemia 1019.e7
264. Krivtsov AV, Armstrong SA: MLL translocations, histone modifications 287. Hnisz D, Abraham BJ, Lee TI, et al: Super-enhancers in the control of
and leukaemia stem-cell development. Nat Rev Cancer 7(11):823–833, cell identity and disease. Cell 155(4):934–947, 2013.
2007. 288. Siersbaek R, Rabiee A, Nielsen R, et al: Transcription factor coop-
265. Chang MJ, Wu H, Achille NJ, et al: Histone H3 lysine 79 methyltrans- erativity in early adipogenic hotspots and super-enhancers. Cell Rep
ferase Dot1 is required for immortalization by MLL oncogenes. Cancer 7(5):1443–1455, 2014.
Res 70(24):10234–10242, 2010. 289. Loven J, Hoke HA, Lin CY, et al: Selective inhibition of tumor onco-
266. Nguyen AT, Taranova O, He J, et al: DOT1L, the H3K79 methyl- genes by disruption of super-enhancers. Cell 153(2):320–334, 2013.
transferase, is required for MLL-AF9-mediated leukemogenesis. Blood 290. Parker SC, Stitzel ML, Taylor DL, et al: Chromatin stretch enhancer
117(25):6912–6922, 2011. states drive cell-specific gene regulation and harbor human disease risk
267. Jo SY, Granowicz EM, Maillard I, et al: Requirement for Dot1l in variants. Proc Natl Acad Sci USA 110(44):17921–17926, 2013.
murine postnatal hematopoiesis and leukemogenesis by MLL transloca- 291. Whyte WA, Orlando DA, Hnisz D, et al: Master transcription factors
tion. Blood 117(18):4759–4768, 2011. and mediator establish super-enhancers at key cell identity genes. Cell
268. Bernt KM, Zhu N, Sinha AU, et al: MLL-rearranged leukemia is 153(2):307–319, 2013.
dependent on aberrant H3K79 methylation by DOT1L. Cancer Cell 292. Mansour MR, Abraham BJ, Anders L, et al: An oncogenic super-
20(1):66–78, 2011. enhancer formed through somatic mutation of a noncoding intergenic
269. Deshpande AJ, Chen L, Fazio M, et al: Leukemic transformation by element. Science 2014.
the MLL-AF6 fusion oncogene requires the H3K79 methyltransferase 293. Herranz D, Ambesi-Impiombato A, Palomero T, et al: A NOTCH1-
Dot1l. Blood 121(13):2533–2541, 2013. driven MYC enhancer promotes T cell development, transformation
270. Daigle SR, Olhava EJ, Therkelsen CA, et al: Selective killing of mixed and acute lymphoblastic leukemia. Nat Med 20(10):1130–1137, 2014.
lineage leukemia cells by a potent small-molecule DOT1L inhibitor. 294. Pouliot GP, Gutierrez A: Thymocyte transformation enhanced. Nat
Cancer Cell 20(1):53–65, 2011. Med 20(10):1096–1097, 2014.
271. Kuhn MW, Hadler MJ, Daigle SR, et al: MLL partial tandem duplica- 295. Heisterkamp N, Stephenson JR, Groffen J, et al: Localization of the
tion leukemia cells are sensitive to small molecule DOT1L inhibition. c-ab1 oncogene adjacent to a translocation break point in chronic
Haematologica 100(5):e190–e193, 2015. myelocytic leukaemia. Nature 306(5940):239–242, 1983.
272. Klaus CR, Iwanowicz D, Johnston D, et al: DOT1L inhibitor EPZ- 296. Leibowitz D, Schaefer-Rego K, Popenoe DW, et al: Variable breakpoints
5676 displays synergistic antiproliferative activity in combination with on the Philadelphia chromosome in chronic myelogenous leukemia.
standard of care drugs and hypomethylating agents in MLL-rearranged Blood 66(1):243–245, 1985.
leukemia cells. J Pharmacol Exp Ther 350(3):646–656, 2014. 297. Grosveld G, Verwoerd T, van Agthoven T, et al: The chronic myelocytic
273. Daigle SR, Olhava EJ, Therkelsen CA, et al: Potent inhibition of DOT1L cell line K562 contains a breakpoint in bcr and produces a chimeric
as treatment of MLL-fusion leukemia. Blood 122(6):1017–1025, 2013. bcr/c-abl transcript. Mol Cell Biol 6(2):607–616, 1986.
274. Chen CW, Koche RP, Sinha AU, et al: DOT1L inhibits SIRT1- 298. Deininger MW, Goldman JM, Melo JV: The molecular biology of
mediated epigenetic silencing to maintain leukemic gene expression in chronic myeloid leukemia. Blood 96(10):3343–3356, 2000.
MLL-rearranged leukemia. Nat Med 21(4):335–343, 2015. 299. Chan LC, Karhi KK, Rayter SI, et al: A novel abl protein expressed
275. Yokoyama A, Somervaille TC, Smith KS, et al: The menin tumor sup- in Philadelphia chromosome positive acute lymphoblastic leukaemia.
pressor protein is an essential oncogenic cofactor for MLL-associated Nature 325(6105):635–637, 1987.
leukemogenesis. Cell 123(2):207–218, 2005. 300. Clark SS, McLaughlin J, Crist WM, et al: Unique forms of the abl
276. Kuhn MW, Armstrong SA: Designed to kill: novel menin-MLL tyrosine kinase distinguish Ph1-positive CML from Ph1-positive ALL.
inhibitors target MLL-rearranged leukemia. Cancer Cell 27(4):431–433, Science 235(4784):85–88, 1987.
2015. 301. Kurzrock R, Shtalrid M, Romero P, et al: A novel c-abl protein
277. Chen YX, Yan J, Keeshan K, et al: The tumor suppressor menin regu- product in Philadelphia-positive acute lymphoblastic leukaemia. Nature
lates hematopoiesis and myeloid transformation by influencing Hox 325(6105):631–635, 1987.
gene expression. Proc Natl Acad Sci USA 103(4):1018–1023, 2006. 302. Konopka JB, Watanabe SM, Singer JW, et al: Cell lines and clinical
278. Borkin D, He S, Miao H, et al: Pharmacologic inhibition of the Menin- isolates derived from Ph1-positive chronic myelogenous leukemia
MLL interaction blocks progression of MLL leukemia in vivo. Cancer patients express c-abl proteins with a common structural alteration.
Cell 27(4):589–602, 2015. Proc Natl Acad Sci USA 82(6):1810–1814, 1985.
279. Greaves MF: Infant leukaemia biology, aetiology and treatment. Leuke- 303. Konopka JB, Watanabe SM, Witte ON: An alteration of the human
mia 10(2):372–377, 1996. c-abl protein in K562 leukemia cells unmasks associated tyrosine kinase
280. Biondi A, Cimino G, Pieters R, et al: Biological and therapeutic aspects activity. Cell 37(3):1035–1042, 1984.
of infant leukemia. Blood 96(1):24–33, 2000. 304. Kloetzer W, Kurzrock R, Smith L, et al: The human cellular abl gene
281. Pui CH, Gaynon PS, Boyett JM, et al: Outcome of treatment in child- product in the chronic myelogenous leukemia cell line K562 has an
hood acute lymphoblastic leukaemia with rearrangements of the 11q23 associated tyrosine protein kinase activity. Virology 140(2):230–238,
chromosomal region. Lancet 359(9321):1909–1915, 2002. 1985.
282. Chessells JM, Eden OB, Bailey CC, et al: Acute lymphoblastic leukae- 305. Naldini L, Stacchini A, Cirillo DM, et al: Phosphotyrosine antibodies
mia in infancy: experience in MRC UKALL trials. Report from the identify the p210c-abl tyrosine kinase and proteins phosphorylated on
Medical Research Council Working Party on Childhood Leukaemia. tyrosine in human chronic myelogenous leukemia cells. Mol Cell Biol
Leukemia 8(8):1275–1279, 1994. 6(5):1803–1811, 1986.
283. Mann G, Attarbaschi A, Schrappe M, et al: Improved outcome with 306. Kharbanda S, Ren R, Pandey P, et al: Activation of the c-Abl tyro-
hematopoietic stem cell transplantation in a poor prognostic subgroup sine kinase in the stress response to DNA-damaging agents. Nature
of infants with mixed-lineage-leukemia (MLL)-rearranged acute 376(6543):785–788, 1995.
lymphoblastic leukemia: results from the Interfant-99 Study. Blood 307. Sawyers CL, McLaughlin J, Goga A, et al: The nuclear tyrosine kinase
116(15):2644–2650, 2010. c-Abl negatively regulates cell growth. Cell 77(1):121–131, 1994.
284. Ntziachristos P, Tsirigos A, Van Vlierberghe P, et al: Genetic inactiva- 308. Mattioni T, Jackson PK, Bchini-Hooft van Huijsduijnen O, et al: Cell
tion of the polycomb repressive complex 2 in T cell acute lymphoblastic cycle arrest by tyrosine kinase Abl involves altered early mitogenic
leukemia. Nat Med 18(2):298–301, 2012. response. Oncogene 10(7):1325–1333, 1995.
285. Simon C, Chagraoui J, Krosl J, et al: A key role for EZH2 and associ- 309. Goga A, Liu X, Hambuch TM, et al: p53 dependent growth suppres-
ated genes in mouse and human adult T-cell acute leukemia. Genes Dev sion by the c-Abl nuclear tyrosine kinase. Oncogene 11(4):791–799,
26(7):651–656, 2012. 1995.
286. Ntziachristos P, Tsirigos A, Welstead GG, et al: Contrasting roles of 310. Tybulewicz VL, Crawford CE, Jackson PK, et al: Neonatal lethality
histone 3 lysine 27 demethylases in acute lymphoblastic leukaemia. and lymphopenia in mice with a homozygous disruption of the c-abl
Nature 514(7523):513–517, 2014. proto-oncogene. Cell 65(7):1153–1163, 1991.

