Table 1.
Summary of the Data Obtained on 27 ESS Tumors by Karyotyping and Expression Analyses
| Casea | ESS subtype | RNA‐seq | Micro‐array | Karyotypeb | Fusion transcript |
|---|---|---|---|---|---|
| 1 | HG | yes | yes | 60∼70,add(1)(q32),i(6)(p10),dic(12;22)(p13;q13),add(19)(p13),+1∼2r,inc[cp9]/46,XX[10] |
YWHAE‐NUTM
ILF3‐CATSPERD RabGAP1L‐RBKS |
| 2 | HG | yes | yes | 53∼71 < 3n>,XXX,+i(1)(q10),+2,+2,‐3,‐4,‐5,‐6,+7,+7,‐8, add(9)(q13),‐11,‐12,‐13,‐14,‐15,‐15, −17,‐17,‐17,‐19,+20,+add(20)(p13),+21,+21,+11mar[cp14] |
GPR180‐DZIP1
WIPF2‐LASP1 |
| 3 | HG | yes | yes | 118∼125,del(1)(q11)x3,i(1)(q10)x2,add(2)(p13∼15),i(17)(q10),inc[cp5] |
RNF126‐NDUFA11
RPH3AL‐BZW2 |
| 4 | HG | yes | yes | nd | YWHAE‐NUTM |
| 5 | HG | yes | yes | nd | YWHAE‐NUTM |
| 6 | HG | yes | yes | nd |
YWHAE‐NUTM
MLL4‐RB1 |
| 7 | HG | yes | yes | nd | NRP2‐C2orf66 |
| 8 | HG | 46,XX,t(10;17)(q22;p13)[17]/46,XX[1] | YWHAE‐NUTM | ||
| 9 | NOS | yes | 46,X,?del(X)(p21)[2]/77∼80,XX,‐X,+3,‐6,+del(7)(p11),+8,+11,‐12,+16,‐18,+19,+20,+20, +21,+21[cp2]/46,XX[11] | EPC1‐PHF1 | |
| 10 | LG | yes | yes | 45,XX,‐10[16]/46,XX[1] | |
| 11 | LG | yes | 46,XX,t(7;17)(p15;q21)[10]/46,XX,idem,+13,‐15[3] | JAZF1‐SUZ12 | |
| 12 | LG | yes | 82∼90,XXXX,t(6;7)(q16;p15)x2,t(7;17)(p15;q12∼21)x2,add(11)(p15)x2,add(12)(q13), del(20)(q13),‐22,‐22,+mar[cp9] | JAZF1‐SUZ12 | |
| 13a | LG | yes | yes | 46,X,t(X;22)(p11;q13),t(3;4)(p23;q27)[8]/46,XX[8] | ZC3H7‐BCOR |
| 14 | LG | yes | yes | 46,XX,t(2;14)(q21;q24),‐3,add(3)(q21∼24),der(5)t(3;5)(q13∼21;p15),+del(5)(q13),der(6) t(5;6)(q13;q21),del(9)(p13),‐16,der(17)t(12;17)(q13;p13),‐22,+der(?;3)(?;p21),+mar[13] | GMPS‐SYNPR |
| 15 | LG | yes | yes | 47∼51,XX,+i(1)(q10),+2,+11,+13,+mar[cp9]/46,XX[6] | KDM2B‐CREBBP |
| 16a | LG | yes | 46,XX,t(1;6)(p32∼34;p21)[15] | MEAF6‐PHF1 | |
| 17a | LG | yes | yes | 42,X,dic(X;22)(p11;p11),der(1;9)(q25;p22∼24)ins(1;?)(q25;?),der(9)t(1;9)(q25;p22),‐10, der(13;15)(q10;q10),‐21,der(22)t(X;22)(p11;q13),+r[20] | ZC3H7‐BCOR |
| 18 | LG | yes | yes | nd | PXDN‐XIRP2 |
| 19 | LG | yes | yes | nd |
H2AFY‐HMHB1
WTIP‐BIRC6 |
| 20 | LG | yes | yes | nd |
ZC3H7B‐BCOR
c
BCOR‐ZC3H7B c |
| 21 | LG | yes | yes | nd | NAIP‐OCLN |
| 22a | LG | yes | 46,XX,inv(2)(p21q37),der(6)del(6)(p21)t(6;7)(q21;p15),der(7)t(6;7)(p21;p15)del(6)(q21)[11]/46,XX[4] | JAZF1‐PHF1 | |
| 23 | LG | yes | nd | JAZF1‐SUZ12 | |
| 24 | LG | yes | yes | 42∼45,XX,‐6,del(6)(q15),‐7,add(13)(q14),add(15)(q15),‐21,+r,+mar[cp9] | JAZF1‐PHF1 |
| 25a | LG | yes | 46,XX,inv(5)(p13∼p14q23∼q31)[13] | MEAF6‐PHF1 | |
| 26 | LG | yes | 45,XX,dic(7;14)(p11;p11),t(7;17)(p15;q21)[7] | JAZF1‐SUZ12 | |
| 27 | LG | 46,XX,ins(6;10)(p21;p?13p11),ins(10;6)(p11;p21p21),del(16)(q22)[18]/46,XX[1] | EPC1‐PHF1 c |
a
Case already published: cases 13 and 17 in Panagopoulos et al., 2013; case 16 in Panagopoulos et al., 2012; case 22 in Micci et al., 2006; case 25 in Micci et al., 2014.
b
nd: not done.
c
New variant of the fusion.