Table 1
Clinicohistopathological and karyotypic data
| Case | Age/Sex | Indication | Location (Size (cm)) | P/R/M | RT-PCR | Karyotype |
|---|---|---|---|---|---|---|
| *Patients with neurofibromatosis type I; †these karyotypes have been reported previously.5,6 | ||||||
| MPNST, malignant peripheral nerve sheath tumour; MTT, malignant triton tumour; NP, not performed; P/R/M, primary, recurrent, or metastatic lesion; RT-PCR, reverse transcription polymerase chain reaction. | ||||||
| 1a | 45/M | MPNST | Ankle | P (biopsy) | NP | 42,XY,-3,add(4)(q35),add(11)(p14),-12,-14,add(19)(q13.4),-21,-21,-22,-22,+mar1,+mar2,+mar3[9]/42,XY,idem,add(1)(p36),del(7)(q31)[3]/46,XY[11] |
| 1b | 45/M | MPNST | Ankle (6.2×6.0×2.8) | R (resection) | NP | 42,XY,del(1)(q35),del(2)(q23),add(4)(q35),+5,del(7)(q31),-9,-9,add(11)(q23),-12,-19,add(19)(q13.4),-21,-22,+mar1,+mar[cp14]/46,XY[7] |
| 2 | 78/M | Epithelioid MPNST | Thigh/buttock (1.5×1.0×0.5) | P (biopsy) | Negative | 43,XY,i(1)(q10),+8,-9,-11,del(12)(p11.1),-18,-22[6]/46,XY[14] |
| 3* | 37/M | MPNST | Lung (1.8×1.2×1.0) | M (resection) | NP | 65,XXY,add(3)(p11.2),add(5)(q35)×2,del(7)(q11.1q34)×2,add(9)(p23),-10,add(13)(p11.1),add(14)(q32)×2,-16,-19,-19,add(20)(q13.3),add(22)(q11.2)×2,1∼3dmin[cp3]/92,XXYY[4]/46,XY[14] |
| 4* | 16/M | MPNST | Thigh (3.0×2.0×0.5) | P (biopsy) | Negative | 46,XY,t(1;3)(p36.1;q11.2),del(7)(q32),+i(8)(q10),del(9)(p13),-10,del(11)(q14),der(12)t(1;12)(q23;p12),der(14)t(10;14)(q11.2;p11.2), der(15)t(15;21) (q26;q?)?dup(21),add(20)(q13.2),-21,add(22)(q11.2),+mar1, 1∼3dmin[cp17]/92, idem×2[cp3]/46,XY[8] |
| 5 | 72/F | MPNST | Thigh (17×6.5×6.5) | P (resection) | Negative | 72,XXX,+1,add(1)(p31)×2,del(2)(p13p23),del(4)(p14p16)×2,del(6)(q13q26)×2,+7,add(7)(q36)×2,+8,-9,-10,del(11)(q23),+12,-14,-15,-16,-17,-18, +add(19)(q13.3),+20,+21,+mar1,+mar2,+mar3,1∼5dmin[cp8]/46,XX[2] |
| 6 | 28/M | MPNST | Neck (8.0×6.5×2.8) | R (resection) | NP | 60∼70,XY,-X,-1,add(1)(p36.3),-3,-6,-8,-9,-10,add(11)(q22),del(11)(q21),-13,-14,-15,add(15)(q24),add(16)(q21),add(16)(q24),-17,-17,-17,+add(19)(q13.2),-20,+21,add(22)(q11.2),+mar1,+mar2,+mar3,+mar4,+mar5,+mar6×2,+mar7,+mar8,+1∼4mar[cp17] |
| 7 | 28/F | MTT | Axilla (11.0×4.0×3.0) | P (resection) | Negative | 64,XX,-X,+1,der(1)t(1;15)(p11;q11.1)×2,+2,-3,-4,+5,-6,+7,+8,-9,-10,-11,-12,-13,-14,-15,-15,-15,-16,+17,+18,+20,+21[5]/46,XX[15] |
| 8* | 21 months/F | MPNST | Shoulder (2.5×1.5×1.5) | P (biopsy) | Negative | 58,XX,-X,-1,-3,-4,-5,-6,+7,+8,-9,-10,-11,-13,-14,+15,-16,-17,-18,-22,+mar[10] |
| 9a† | 25/F | MTT | Forearm (1.5×1.5×3.0) | R (resection) | NP | 47,XX,t(1;2)(p13;p25),t(3;14)(p12;q31),ins(4;?5)(q28;?q22q32),-5,add(9)(p24),add(15)(q26),add(22)(q13),+mar1,+mar2[5]/47,XX,add(6)(p25),t(7;8)(p11;p11),t(12;21)(q21;q21),+22[4]/47,XX,t(2;10)(q31;p15),t[3;der(7)][p13;q36],der(7)t(7;?7)(p22;?q?),+mar[2]/46,XX[2] |
| 9b | 27/F | MTT | Forearm | R (biopsy) | NP | 44,XX,-2,-3,del(3)(p13),-4,add(6)(q27),der(7)t(7;?7)(p22;?q?),-10,der(12)t(12;21)(q24;q21),add(13)(q34),add(15)(q26),-16,-17,-21,+mar1,+mar2,+mar3,+mar4,+mar5[cp7] |
| 9c | 27/F | MTT | Forearm (5.0×2.0×2.0) | R (resection) | neg. | 45,XX,-2,-3,del(3)(p13),ins(4;?5)(q28;?q22q32),add(6)(q27),der(7)t(7;?7)(p22;?q?),add(13)(q34),add(15)(q26),-16,-17,-21,+mar1,+mar2,+mar3,+mar4[cp19] |
| 10 | 50/F | MPNST | Shoulder (9.0×7.5×7.5) | P (resection) | NP | 71∼82,XXX,del(1)(q21)×2,add(2)(q?),del(4)(p13),-5,-5,+del(7)(p11),-8,-8,-9,-9,-10,-10,del(12)(p11),+14,add(16)(q24),add(20)(q11),+mar1,+mar2,inc[cp3]/46,XX[9] |
| 11* | 26/M | MPNST | Pelvis (19.0×10.0×7.5) | P (resection) | Negative | 71-75,XY,-X or -Y,-3,dic(3;9)(q11;p11)×2,-4,del(4)(q28q35),der(7)del(7)(q22)t(1;17;7)(?;?;p22)×2,der(7)t(7;7)(p22;?),+der(7)t(7;7)(p22;?),-8,add(8)(q24.3)×2,-9,-9,+11,del(11)(q23)×2,del(12)(q24), +der(14)t(7;14)(?;p11),-15,-16,-16,-16,-17,der(17)del(17)(p13)t(17;17)(q25;?)×2,+18,der(19)t(13;19;21)(q?;?p11q11;q?)×2,der(20)t(12;20)(?q13;p13)×2,der(21)t(17;21)(?;q22)×2,der(22)t(8;22)(?;p11),der(22)t(8;17;22)(?;?;p11), +mar1,+mar2,+mar3×2,+5∼9mar[cp20]/46,XY[2] |
| 12*† | 35/F | MPNST | Foot (4.5×3.0×3.0) | P (biopsy) | Negative | 47∼65,XX,del(1)(p31),+del(3)(q13.3),+del(6)(q21)×2,+del(6)(q27)×2,del(7)(q21),add(12)(q24),+add(16)(q24),add(20)(q11.2),-21,+mar1,+mar2,+6mar[cp3]/46,XX[44] |
| 13a*† | 17/F | MTT | Knee | P (biopsy) | Negative | 69,XX,-X,del(1)(p21),-3,+der(5)t(5;?9)(p13;?q13),der(5)t(5;?9)(p13;?q13),+7,+8,+8,-9,-9,-9,-10,-10,dup(11)(p11.2p15),+del(12)(q15),del(12)(q15),-13,-14,-16,-17,-18,+21,-22,+mar1×2,+mar2,+mar3,+3mar[cp20]/46,XX[12] |
| 13b*† | 17/F | MTT | Knee (5.5×5.5×20.0) | P (resection) | Negative | 64,XX,?del(X)(q22),+?del(X)(q22),-1,-2,der(5)t(5;?9)(p13;?q13),+7,-9,-10,-11,-12,-16,-17,-18,+mar1,+mar1[12]/42,X,del(X)(q22),-1,-3,der(5)t(5;?9)(p13;?q13),-9,-11,-14,-17,-18,+mar1,+mar2,+mar3[7]/46,XX[1] |
| 14* | 60/M | MPNST | Lumbar region (25.0×23.0×10.0) | P (resection) | NP | 44,XY,del(3)(p21),del(10)(q22),-13,-16,del(20)(q13.3),add(22)(q11.2)[3]/46,XY[21] |
| 15* | 32/F | MPNST | Upper arm (4.5×2.5×2.0) | P (resection) | Negative | 46,XX,add(1)(q21),-6,-10,-14,-18,+mar1,+mar2,+mar3,+mar4,inc[cp12]/46,XX[9] |
| 16† | 27/F | MTT | Paraspinal (5.6×8.4×14.3) | P (resection) | NP | 63,XX,-X,+dic(1;22)(p36;p10),+del(2)(q33),t(2;?12)(p25;?),-3,add(4)(q34),+5,dic(7;?11)(p22;?),-10,-11,der(11)t(5;11)(q11;q23),-12,-12,-14,add(14)(p11),-15,-16,add(16)(p13),-17,-18,-19,-20,del(20)(q13),?add(21)(q22),+mar1,+mar2,+mar3,+mar4,2∼8dmin[cp5] |
| 17* | 20/M | MPNST | Lower leg (28×20×15 cm) | P (resection) | NP | 67,XXY,+add(1)(p35),+3,-13,add(19)(q13),-20,-20,-21[8]/46,XY[13] |
