1、 c I | ( Article ID): 1009- 2137( 2010) 04- 1096- 05 # 8 #Tet2l M 0 A h+ , + ,f 1, y 1南京医科大学附属无锡人民医院血液科, 江苏无锡 214000;1南京医科大学第一附属医院血液科, 江苏南京 210029K 1 Tet2( tet y E B 2) ? C 0 ? 4q24 ? y , ? 3 ? lM . ? bK V , % 9 ( polycythem ia vera, PV)a ? l 9 ( essential thrombocy2themia, ET)a 8 (myelofibrosis)a“
2、d g v % 9 ( systemic mastocytosis, SM) 9 3 s 8 (myelodysplastic syndrome, MDS) 0 % h ( V ? C tet2l M i , tet2 0 A “ d % h T 1 Y V v - Q b tet2l M 9 ? a“ d g v % 9 3 a 93 s 8 a$ “ h # 0 A h 1 “ 8 b1 o M tet2 y ; 9 ? ; 9 3 s 8 m s | R733; R55 D S M AM u tation of tet2 G ene and M alignan t Blood D ise
3、ase ) ) ) ReviewQIAN Xi2Feng, SHEN Yun2Feng, ZHANG Su2Jiang1, LI Jian2Yong1Department ofHematology, Wuxi PeopleHospital, NanjingMedical University, Wuxi 214000, Jiangsu Province, China; 1Departm entofHematology, The FirstHospital, NanjingMedicalUniversity, Nanjing 210029, Jiangsu Province, ChinaCorr
4、espondingAuthor: LI Jian2Yong, Senior Physician, Professor. Tel: (025)83781120. E2mail: lijianyonglmm edemail. com. cnAbstract Tet2 ( the 2nd member of tet oncogene fam ily) is a newly discovered antioncogene on the chromosome4q24 of the patientwithm alignantmyeloma, which has a potential for functi
5、onal deletion. Recent studies demonstratedthat tet2 m utation was found in polycythem ia vera( PV), essential thrombocythem ia( ET), m yelofibrosis, system aticmastocytosis( SM ), andmyelodysplastic syndrome(MDS). However, a great num ber of perspective researches are stillneeded for exploring the r
6、ole of tet2 in the pathogenesis ofmalignantblood diseases. In this review, the relation of tet2mutationw ith myeloproliferative neoplasm, system ic mastocytosis, m yelodysplastic syndrome, acute m yeloid leukem iaand othermalignantblood diseases are summ arized.Key words tet2 gene; m yeloproliferati
7、ve tum or; myelodysplastic syndromeJ Exp H ematol 2010; 18( 4): 1096- 1100Y T : y , D = a q . : ( 025) 83781120. E2mai:llijianyonglmmedemai.l com. cn2010- 06- 02 l ; 2010- 06- 21 s K , Delhommeau 1? C tet2( tet y E B 2) 0 % h 4q24 K l 0 ( loss2of2heterozygosity,LOH ) u ? y ,c 11 A 0 ,y 150 kb,i O 8
8、= l M . ? btetE B Z o u , 3 ? b# b tet1 “ ten2eleventranslocation 1“ e , 10q22 B y , y AMLM 1 8 t( 10;11) ( q22; q23)V MLL s 2b ?C s Y TET2 TET3b , tet2 AML 4q24 , t : t( 3; 4) ( q26; q24)at( 4; 5)( q24; p16)at( 4; 7) ( q24; q21) del( 4) ( q23q24)b2005 M , Viguie 3 t 4q24 ? 3 “ % “ ? C % ,i O Y V BA
9、C X H ; / ? C 4q24 0. 52Mbv l u b2008 M , Delhommeau 1 , 9 ? ( myeloproliferative neoplasm, MPN ) 4q24 LOH / , tet2 c K l /B u bTet2s tet2 A(NM 00112720822002 ) tet2 B(NM 01762821165 ) , A I ? C 8 % l M b tet2 A 133 kb, 12 A 0 ,I 2002 ,N tet2 0 / T b 7 ,| tet2l M MPN % M NOD2SCIDl 8 = V , tet2 V ? /
10、#1096# S L A JournalofExperimentalHematology 2010; 18( 4): 1096- 1100 M 1 1 PMF HBap l l M l l M b y + s s A U , v s % ( ( 96% )_ tet2l M b tet2l M ? 3 CD34+F % = s “ ,V tet2l M ? 3 % h ? 3 * , % 3 Z 1 T , Del2hommeau 1 ? C M bLangemeijer 32 ,tet2 ? C MDS K n l M y , 7 O 4q24s MDS y b tet2 % V r , T
11、 A U tet2 F V r T , 10- 100 V r i % , % b Y V B 1 tet2 MDS v F V r ,? C tet2 MDS % V r A b MDS ( i % J , tet2V r / V ? MDS y % s , tet2V r “ s W i 1 b tet2l M ? 3 MDSS = s “ d ( International PrognosticScoring System, IPSS) l , (41% ) 21( 27% )F ? 3 q ,7 22(13% ) ( 14% )F ? 3 q M b % h S % 9 h tet2l
12、 M A h b F , y y f l M y MDSs a93 i q K Z AML W A M 1 b 7 , 1 ? V 4 , 1 ? v - Q bTet2l M $ “ h (AML)% as 0 L . s AML h $ bAML60% X H 8 s , i “ % 9 3 a 3 i s 1 y lM V r s b L 8 ? , AML + s 8 y , AML 8 y lM r 200 b “ - , tet1$ AMLM1 8 t( 10; 11) ( q22; q23)V MLL s 2b tet2 AML 4q24 , t : t( 3; 4) ( q26
13、; q24)at( 4; 5) ( q24; p16)at( 4; 7) ( q24; q21) del( 4)( q23q24)b2005 M , Viguie 3? C , t 4q24 ? 3 “ % “ ? C % , i O Y V % ) 8 ( bacterial artificial chromosome, BAC) X H ; / ? C 4q24 0152Mbv l u bTefferi 31 DNA s _ DNA tet2l M f , T ? C 7 ? ? AML( 5 ? ? MDS, 2 ? ? MDS/MPNCMML) 3 C tet2l M , CMML (
14、 20% )aMPN( 13% )aSM( 29% )M 1 , l M q b5 ? AML, AML2M7 ( 2 )aM6 ( 1 )aM3 (1 ), AML2M3 tet2l M bTefferi 31 , tet2l M ? h M 1 ( . M 1 )l M i , PML2RARAaMPLW515LaJAK2V617F2 KITD816Vb#1098# S L A J Exp Hematol 2010; 18( 4)Tet2l M 0 A h6 , tet2l M V n CMMLaMPN2U MDS/MPN31, 1 v ? - Q L t 4 b k b tet2 3 T
15、 Y | / % s ? 4 bl 1 V 2008 M Delhommeau 1 n Q tet2MPN V r , y l M 0 A h T s j , Tefferi 31 V ,tet2l M S t $ 0 % h b 1 tet2l M “ 5 , tet2l M 0 % h ? h T ; tet2l M ? h M 1 ( . M 1 )l M i , PML2RARA, MPLW515L, JAK2V617F2 ( 2 ) KITD816V( 3) , t l M 3 y T 1 “ ;tet2l M C Y A a Q , Q z X H 4 U b B b t 5 ,“
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