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Table 1 A summary of abnormal karyotypes in BPDCN cases reported in literatures

From: Simultaneous deletion of 3′ETV6 and 5′EWSR1 genes in blastic plasmacytoid dendritic cell neoplasm: case report and literature review

Case# Abnormal Karyotypesa Authors
1 44,X,-Y,der(1)t(Y;1)(q12;q?21),der(3)t(1;3)(p11;q?),del(5)(?q33q35),der(6)t(1;6)(q22;q?)t(1;8)(q?;q?),der(12)t(1;12)(?;p11),r(13)[7]/46,XY[8] Leroux et al. [4]
2 46,XX,del(5)(q13q33)[2]/42,idem,der(1)t(1;8)(?q43;?),dup(2)(?q35q37),-9,der(12)(?),-13,-15,der(20;21)(?p11;?q22),der(21;21)(q21;q11)ins(21;12)(q11;?)[20]/46,XX[3] Leroux et al. [4]
3 84 ~ 87,XX,del(X)(q24),del(X)(q24),add(2)(q3?),der(2)(?),+del(4)(q23),+del(5)(q14),+del(5)(q14q23),add(6)(q?),-9,-11,del(12)(p12),-13,-13,-14,-15,-15,-17,-17,-18,+r(?),+1 ~ 3mar[cp11]/46,XX[4] Leroux et al. [4]
4 45,XY,del(5)(q3?1q3?5),der(7)t(7;12)(?p11.2;q11),-12[3]/46,XY[10] Leroux et al. [4]
5 45,XY,+5,der(5)t(5;11)(p10;?),der(5)t(5;11)(p10;?),add(6)(q?22),del(11)(q14q23),-13,-15[4]/46,XY[2] Leroux et al. [4]
6 44,XX,del(3)(p21),-5,-12,-13,add(17)(p11),-18,-19,+3mar[27]/46,XX[2] Leroux et al. [4]
7 48,XY,+6,add(6)(q10),add(6)(q10),add(9)(p24),der(12)t(1;12)(q22;p13),+21[2]/46,XY[13] Leroux et al. [4]
8 43,XY,t(3;6)(p25;q2?3),der(7)t(7;19)(p21;q10),-9,der(12)t(5;12)(?;p11),-13,-19[10] Leroux et al. [4]
9 46,XY,del(2)(p2?1),add(8)(q2?4),del(13)(q1?3q2?1)[31]/47,idem,+mar[10] Leroux et al. [4]
10 46,XX,del(12)(p12p13)[9]/46,XX[2] Leroux et al. [4]
11 45,XX,del(5)(q13q34),?inv(11)(p11q21),der(15;18)(q10;q10)[15]/44,idem,-22,dmin[2]/88,idemx2,del(6)(q16)[2]/46,XX[1] Leroux et al. [4]
12 42,X,-Y,der(2)t(2;5)(p?;?)t(2;6)(q?14;q11),del(5)(p13),der(5)t(5;13)(q21;q?),der(6)t(2;6),t(6;18)(q2?2;q22),der(11),-13,der(13)t(13;21)(q10;q10),-14,der(14)t(Y;14)(q11;p11),r(15),der(19)t(3;19)(p21;q13),-21,i(22)(q10)[18]/46,XY[3] Leroux et al. [4]
13 44,XY,-9,-13[8]/88,idemx2[18]/46,XY[5] Leroux et al. [4]
14 49,XY,+6,t(6;8)(p21;q24),+r(12),+20[6]/49,idem,inv(15)(q1?4q2?3),t(16;16)(q?;q?)[6]/49,idem,t(3;5)(q?21;q?31)[5] Leroux et al. [4]
15 46,XX,del(5)(q13q33)[2]/42,idem,-9,-12,-13,-15,-21,+3mar[20]/46,XY[2] Petrella et al. [12]
16 43,XX,der(1)t(1;15)(p22;q14),der(2)t(2;6;9)(p23;?;?),del(5)(q12q34),del(6)(q21),-9,-12,-13[12]/46,XX[17] Petrella et al. [12]
17 45,X,-Y[2]/46,XY[36] Petrella et al. [12]
18 44,XY,t(1;10)(p36.1;p13),del(3)(p21),-9,-13[11]/46,XY[9] Alayed et al. [6]
19 46,XY,add(2)(q37),der(2)t(2;3)(q21;q27),der(3)t(3;8)(p25;q24)t(2;3),del(16)(p11.1),add(19)(q13.3)[4]/47,XY,add(2)(q37),der(2)t(2;3)(q21;q27),der(3)t(3;8)(p25;q24)t(2;3),del(16)(p11.1),add(17)(p13),+mar[2]/47,XY,add(2)(q37),der(2)t(2;3)(q21;q27),der(3)t(3;8)(p25;q24)t(2;3),del(6)(q13q21),+11,del(16)(p11.1),add(19)(q13.3)[cp3]/46,XY[10] Alayed et al. [6]
20 47 ~ 49,XY,+8,+8,del(13)(q12q14),+21[cp4]/46,XY[7] Alayed et al. [6]
21 44 ~ 47,XX,del(3)(p21),del(6)(q13q23),+1 ~ 6mar[cp5]/46,XX[17] Alayed et al. [6]
22 46,XY,t(1:9)(p36.1;q34)[7] Alayed et al. [6]
23 45,XY,del(12)(p13),-13[7] Alayed et al. [6]
24 49,XY,+der(?)t(Y;?)(q12;?),+21,+mar[17]/46,XY[3] Bayerl et al. [13]
25 45,XY,t(2;5)(p23;q35),–9,t(12;17)(p11;p11)[9]/44,XY,idem,–13,add(15)(p11) [13] Bayerl et al. [13]
26 46,XY,del(6)(q23),del(17)(q21)[23]/46,XY[3] Bayerl et al. [13]
27 37 ~ 38,XX,add(3)(p25),del(6)(q21q25),–7,add (7)(p22),–8,i(8)(q10),–9,–10,add (11)(p15),i(11)(q10),–12,–13,–15,-17,add(19)(p13)[cp12]/46,XX[3] Rakozy et al. [14]
28 42 ~ 45,XY,del(5)(q11.2q33),add(12)(p11.2),-13,add(14)(q32),-15,+mar[cp9]/46,XY[11] Zhang et al. [15]
29 46,XY,del(5)(q13q33)[2]/46-55,XY,+5,+5,del(5)(q13q33)x2,–6,+7,+8,+8,der(8)t(6;8)(p11.2;q22)x2,–15,+16,+17,+18,+21,+21[cp5] Wilson and Medeiros [16]
30 46,XY,del(6)(q21q25)[12]/46,XY,del(12)(p11.2p12)[4]/46,XY,add(11)(q23)[5] Wilson and Medeiros [16]
31 45,X,-Y[17] Patel et al. [17]
32 47,XX,t(7;9)(p15;p24),+8 Goren Sahin et al. [18]
33 44,XY,del(5)(q13),-13,der(13)t(11;13)(q12;q32),-15 Brody et al. [2]
34 45,XY,del(7)(p12),del(9)(q12q22),-10,del(11)(q21) Anargyrou et al. [19]
35 45,XY,der(9)t(1;9)(p22;p13),del(11)(q21),−15[10]/46XY[4] Karube et al. [20]
36 69,XXX,t(1;6)(q21;q23),der(6)t(1;6),add(7)(p11) × 2,−9,+12,add(12)(p11) × 2,−15,−15,−15,−16,+20,−22,+1 ~ 4mar[3]/46XX[17] Karube et al. [20]
37 44,XX,t(1;6)(q31;q25)[20] Rossi et al. [21]
38 45,XY,-1,-3,add(6)(q?),+mar[20] Rossi et al. [21]
39 45,XX,-13/45,XX,-22/46,XX Eguaras et al. [22]
40 46,XY,add(9)(p24),del(11)(q22) Chang et al. [23]
41 47,X,-Y,t(6;8)(p21;q24),+add(7)(p11.2),+der(8)t(6;8),+20[17]/46,XY (LN cells) and 48,X,-Y,t(6;8)(p21;q24),+add (7)(p11.2),+der(8)t(6;8),+20[5]/49,idem,+mar[2]/49,idem,der(8)t(6;8),?t(9;15)(p22;q15),+mar[2]/46,XY[3] (BM cells) Nakamura et al. [24]
42 46,XY,del(12)(p12),del(17)(p11)[17]/46,XY[13] Agapidou et al. [25]
43 44,XY,der(1)t(1;1)(q42;q11),t(7;12)(p13;p13),-13,-17,der(19)t(17;19)(q21;p13)[8]/46,XY[11] DiGiuseppe et al. [26]
44 45,XY,der(7)t(1;7)(q11;p22),der(12;15)(q10;q10),add(13)(q12)[7]/44,idem,-9[4]/44,idem,del(3)(p25),-9[3]/46,XY[6] Kameoka et al. [27]
45 45,XY,der(3;7)(q10;q10),t(6;19)(p21.1;p13.3),t(8;18)(q24.1;q21.1) [16]/46,XY[4] Yu et al. [28]
46 46,XY,der(12)t(12;22)(p13;q12)del(22)(q12q12)inv(12)(p13q24.1),der(22)t(12;22)del(12)(p13p13)[10]/46,XY[10] this study
  1. aIn some cases, current description of abnormal karyotypes may be slightly different from their previous literature reports. A minor modification has been made in order to follow the ISCN 2013 nomenclature guidelines as well as to integrate all findings by other means than conventional analysis (e.g., FISH and SKY) into the description of an abnormal karyotype