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000128679 041__ $$aeng
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000128679 1001_ $$aDurham, Benjamin H$$b0
000128679 245__ $$aGenomic analysis of hairy cell leukemia identifies novel recurrent genetic alterations.
000128679 260__ $$aStanford, Calif.$$bHighWire Press$$c2017
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000128679 520__ $$aClassical hairy cell leukemia (cHCL) is characterized by a near 100% frequency of the BRAFV600E mutation, whereas ∼30% of variant HCLs (vHCLs) have MAP2K1 mutations. However, recurrent genetic alterations cooperating with BRAFV600E or MAP2K1 mutations in HCL, as well as those in MAP2K1 wild-type vHCL, are not well defined. We therefore performed deep targeted mutational and copy number analysis of cHCL (n = 53) and vHCL (n = 8). The most common genetic alteration in cHCL apart from BRAFV600E was heterozygous loss of chromosome 7q, the minimally deleted region of which targeted wild-type BRAF, subdividing cHCL into those hemizygous versus heterozygous for the BRAFV600E mutation. In addition to CDKN1B mutations in cHCL, recurrent inactivating mutations in KMT2C (MLL3) were identified in 15% and 25% of cHCLs and vHCLs, respectively. Moreover, 13% of vHCLs harbored predicted activating mutations in CCND3 A change-of-function mutation in the splicing factor U2AF1 was also present in 13% of vHCLs. Genomic analysis of de novo vemurafenib-resistant cHCL identified a novel gain-of-function mutation in IRS1 and losses of NF1 and NF2, each of which contributed to resistance. These data provide further insight into the genetic bases of cHCL and vHCL and mechanisms of RAF inhibitor resistance encountered clinically.
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000128679 650_7 $$2NLM Chemicals$$aAntineoplastic Agents
000128679 650_7 $$2NLM Chemicals$$aCCND3 protein, human
000128679 650_7 $$2NLM Chemicals$$aCDKN1B protein, human
000128679 650_7 $$2NLM Chemicals$$aCyclin D3
000128679 650_7 $$2NLM Chemicals$$aDNA-Binding Proteins
000128679 650_7 $$2NLM Chemicals$$aIndoles
000128679 650_7 $$2NLM Chemicals$$aMLL3 protein, human
000128679 650_7 $$2NLM Chemicals$$aSplicing Factor U2AF
000128679 650_7 $$2NLM Chemicals$$aSulfonamides
000128679 650_7 $$2NLM Chemicals$$aU2AF1 protein, human
000128679 650_7 $$0147604-94-2$$2NLM Chemicals$$aCyclin-Dependent Kinase Inhibitor p27
000128679 650_7 $$0207SMY3FQT$$2NLM Chemicals$$avemurafenib
000128679 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aProto-Oncogene Proteins B-raf
000128679 650_7 $$0EC 2.7.12.2$$2NLM Chemicals$$aMAP Kinase Kinase 1
000128679 650_7 $$0EC 2.7.12.2$$2NLM Chemicals$$aMAP2K1 protein, human
000128679 7001_ $$aGetta, Bartlomiej$$b1
000128679 7001_ $$0P:(DE-He78)6333b389d0abc96ef7f2f6e049a8f8c4$$aDietrich, Sascha$$b2$$udkfz
000128679 7001_ $$aTaylor, Justin$$b3
000128679 7001_ $$aWon, Helen$$b4
000128679 7001_ $$aBogenberger, James M$$b5
000128679 7001_ $$aScott, Sasinya$$b6
000128679 7001_ $$aKim, Eunhee$$b7
000128679 7001_ $$aChung, Young Rock$$b8
000128679 7001_ $$aChung, Stephen S$$b9
000128679 7001_ $$0P:(DE-He78)c9be4ab60d1090c3d315a2ca6905e9ea$$aHüllein, Jennifer$$b10$$udkfz
000128679 7001_ $$0P:(DE-He78)e8feda17d03b95bda3e8717e79dc07b8$$aWalther, Tatjana$$b11$$udkfz
000128679 7001_ $$aWang, Lu$$b12
000128679 7001_ $$aLu, Sydney X$$b13
000128679 7001_ $$aOakes, Christopher C$$b14
000128679 7001_ $$aTibes, Raoul$$b15
000128679 7001_ $$aHaferlach, Torsten$$b16
000128679 7001_ $$aTaylor, Barry S$$b17
000128679 7001_ $$aTallman, Martin S$$b18
000128679 7001_ $$aBerger, Michael F$$b19
000128679 7001_ $$aPark, Jae H$$b20
000128679 7001_ $$0P:(DE-He78)f3d5f16b49eb47520def635be98d5576$$aZenz, Thorsten$$b21$$udkfz
000128679 7001_ $$00000-0002-3907-6171$$aAbdel-Wahab, Omar$$b22
000128679 773__ $$0PERI:(DE-600)1468538-3$$a10.1182/blood-2017-01-765107$$gVol. 130, no. 14, p. blood-2017-01-765107 -$$n14$$p1644-1648$$tBlood$$v130$$x1528-0020$$y2017
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