Table 1 : Clinical and cytogenetic features of patients with PDGFRα/ETV6 fusion.


Age/Gender Initial DX Initial Tx Later Dx Karyotype FISH Tx Survival (M) Reference

77/F AUL NA None 46,XX,t(4;12)(q12;p13) ND NA NA [60]
64/M AML FCR AML 46,XY,t(4;12)(q12;p13), del(5)(q35) ND FCR, Imatinib/ Gemtuzumab No
response
[24]
74/F AML M1 NA None 46,XX,del(10)(q11), t(4;12)(q13;p13) ND None NA [61]
33Y M AML Dauno+AraC None 46,XY,t(4;12)(q11;p13) ND None 1M [62]
29/M RAEB NA None 46,XY,t(4;12)(q12;p13)   None LostF/U [63]
76/F NK-cell Chemo None 46,XX,t(4;12)(q12;p13) ND None 8+ [38]
70/M AML M0 Chemo None 46,XY,t(4;12)(q12;p13) 47,idem,+del(1)(p11p35) ND None <1M [38]
81/M AML M0 Chemo None 46,XY,t(4;12)(q12;p13)/ 46,idem,del(5)(q13q33) ND None 3+ [38]
54/M AML M0 Chemo None 46,XY,t(4;12)(q12;p13) ND BMT 50+ [38]
25/M tAML      Chemo None 46,XY,t(4;12)(q12;p13) ND None 12 [39]
51/M MPD Hydroxy
carbomide
None 46,XY,t(4;12)(q2?3;p1?2) ND Imatinib 93+ [25]
42/F AML-M2 NA          None 46,XX,t(4;12)(q12;p12-13) ND NA 13.3M [64]
3/M ALL-L1 NA NA 47,XY,t(4;12)(q13;p12), del(1q),del(2q),der(3q) del(6)(q21q25),+mar ND NA NA [65]
4/M ALL-L1 NA NA 46,XY,t(4;12)(q13;p12),
der(1)t(1;?)(p36;?) 
ND NA NA [65]
70/F t-AML NA None 46,XX,del(7)(q32q36)/47,idem,+2/
47,idem, t(4;12)(q12;p13),+21
PDGFRα/ETV6 NA NA [14]
41/M AML M0 Chemo None 46,XY,t(2;4;12)(p21;q12;p13)/+3 clones + None 3M [41]
61/M AML M2 Chemo None 46,XY,t(4;12)(q11-12,p13) ND None 19+ [66]
43/M AML M0 Chemo None 46,XY,t(4;12)(q11-12;p13) ND None 31+ [66]
49/M AML M2 Chemo None 46,XY,t(4;12)(q11-12;p13) ND None 6+ [66]
57/M AML-M5 Chemo None 46,XY,t(4;12)(q12;p13) PDGFRα/ETV6 None 24+ [42]
NA AML NA Relapse 46,XY,t(4;12)(q11;p13) ND None NA [67]
39/F AML M1 HAM/HAM None 45,XX,t(4;12)(q12;p13) dic(7;12)(q11;p13)  CHIC2/ETV6 Chemo Aive BMT [68]
70/M AML M0 Chemo None 46,XY,t(4;12)(q13;p13) ND None 5M [69]
18/F AML M2 Chemo NA 46,XX,t(4;12)(q12;p13) ND None 9+, BMT [70]
67/M MDS/RAEBt Chemo None                45,XY,-5,-7,+mar/42-43 idem,-11,-17,+der(?)hsr(11)(q23)/43,idem t(4;12)(q12;p13)     ND None 6M [71]
14/F AML M2 Chemo NA 46,XX,t(4;12)(q12;p13), i(17)(q10) TEL+ NA 9+ [72]
47/F PV Busulfan AML M4 46,XY,t(4;12)(q12;p13) ND Chemo 96M [73]
47/M AML M2   NA 46,XY,t(4;12)(q12;p13) ETV6+ NA NA [45]
69 M AML M0 -- -- 46,XY,t(4;12)(q12;p13)/46, idem,-7,+11/46,idem,
del(7)(q21)   
ETV6+ NA NA [45]
59/M AML M7 NA NA 46,XY,t(4;12)(q12;p13) NA NA 2.5M [74]
46/M AML M4 -- -- 46,XY,t(4;12)(q12;p13),-7,+6/46,XY,t(4;12),del(9q) NA NA NA [75]
11/F ALL ALL8 None 45,XX,t(4;12)(q13?;p12), der(7),der(21) None None 24+ [76]
Peds/F AML M1 NA NA 46,XX,-7,inv(3)(p25q21),del(6) q13q21),del(10)(q24),
t(4;12)(q12;q13),+mar/47,XX,idem,+15
ND NA NA [77]
82/M AML M1 NA None 4,XY,t(4;12)(q11;p13) None None NA [37]
67/NA AML-M0 NA None 47,XY,t(4;12)(q12;p13),-21, +der(21)del(q?)x2 ND NA NA [19]
64/NA AML-M0 NA None 46,XY,t(4;12)(q12;p13) ND NA NA [19]
66/F tAML-M1 NA NA 46,XX,t(4;12)(q12;p13)/
46,idem,i(17)(q10) 
ND NA 16 [78]

Koduru et al.Hematology and Leukemia  2016 4:1DOI : 10.7243/2052-434X-4-1