Table 1 Clinical, cytogenetic, and FISH data

From: Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisation

Case no. a

Age/sex

Site b

Size c

Treatment d

Follow-up e

Karyotype f

LSI ®® p16/cep 9 g

1P

73/F

S

8

SI, RT

R 22, AwD 26

40-42,X,-X,-3,-4,-10,del(11)(q23),-16,-21,-22,inc

++/++

2R

37/F

S

3

SI, RT, IFN

R 97+169+274+307, M 217, DoD 338

46,XX

−−/++

3P

56/M

S

12

SI

R 26, DoD 40

46,XY

ND

4P

52/F

S

10

SM, RT

R 67, M 67, DoD 70

46,XX

ND

5P

42/M

C

5

SW

NED 120

46,XY

−+/−+

6P

41/M

C

6

SW

NED 36

46,XY

++/++

7P

71/M

C

9

S, RT

R 42+114, NED 126

46,XY,t(1;8)(q21;q24),t(2;?15)(p23;q15),add(3)(q21),t(5;7)(q33;q22)/43-48,XY,add(3)(p21),-4,-11,add(11) (q23),add(12)(q13),add(14)(q12),+21,+3mar/46-48,XY,t(1;5)(q3?2;q1?5),del(8)(p21),inv(11)(p11q23),-16, add(21)(q22),+marh

−+/−+

8P

61/M

S

15

SM

R 39+62, M 88, DoD 113

40,XY,der(1)t(1;21)(p11;q11),-3,-4,-8,der(8)t(1;8)(q21;p23),add(9)(q22),del(9)(p22),-13,-14,-18,der(20)t(8;20) (q11;q13),-21,+mar/77-84,idemx2,+3,+8,+2marh

−−/++

9P

74/M

C

3

S

NED 18

40-42,XY,-3,der(6)t(6;9)(q?25-27;q11-12),-8,-9,der(9)t(9;10)(p24;?) or der(9)t(9;16)(p24;?),-10,dic(12;?16) (?p1?3;?)?inv(12)(p11p13),der(21)t(8;21)(q11;p13),-22h

−+/−+

10P

60/F

S

6

S

NED 120

43,-X,der(X;1)(q22-24;p13),der(1)t(1;11)(p1?3;p1?3),der(1;22)(q10;q10), add(3)(p12-13),der(3)t(3;12) (p25;?p11),der(5)ins(5;19)(p15;p11p12) or der(5)ins(5;19)(p15;q11q12),der(7)t(2;7)(p15-16;q21-22) or der(7) t(2;7)(q31-32;q21-22),+der(7)t(7;13)(p15;?q14)t(1;13)(p22;q22),der(8)t(7;8) (?q32;q24),?der(10)del(10)(p11) del(10)(q22),der(11)t(11;16) (p11;q11),der(12)t(7;12)(q11;p11),?inv(12)(q13q15),-13,del(14) (q32),-16,-17,-18h

++/++

11P

51/M

S

8

SI

R3+60+63+86+90+113, DoD 118

42,X,-Y,der(1)t(1;3)(p31;p11-12),der(2)t(2;3)(p21;?),-3,der(3)t(2;3) (?;p12),-4,der(5)t(5;16)(q33;?p?),der(7) t(5;7)(q33;q36),+der(8)t(1;8) (?;q24),del(9)(p13),-10,del(11)(q13),dup(12)(q13q24),+del(12) (q13),-16,-18, dup(18)(q?),?add(19)(q13),der(22)t(4;22)(q11;p11)/40,X,-Y,der(1)t(1;3),der(2)t(2;3),der(2)t(2;7)(p?;?),-3, der(3)t(2;3), der(4)t(4;7)(p?;?),der(5)t(5;16),der(6)t(6;7)(q?;?),der(7)t(5;7), del(9),-10,del(11),dup(12),+del(12), der(13)t(8;13) (q?;q?),-16,der(17)t(6;17)(?;q?),der(19)t(3;19),der(22)t(4;22)/46,del(X)(q24),-Y,der(1)t(1;9) (p36;?),der(2)t(2;16)(p21;?), der(3)t(3;14)(p21;q24)t(3;16)(q11;?)t(2;16)(?;?),der(4)t(4;13)(q3?;?), der(5)t(5;16),der(6)t(6;8)(p23;?p21),?del(7)(q?),der(8)t(6;8)(?;p?),del (9),del(11),der(12)t(7;12)(q?;q24)t(5;7)(q33;?), +del(12)(q13q15), der(14)t(3;14)(q21;q24),-16,der(16)t(Y;16)(q11;p13),der(17)t (9;17)(q?;p?),?add(17)(p11), der(19)t(X;19)(?q24;p13)h

−+/++

12R

70/M

T12

5

S, RT

R 12+23, AwD 61

40-44,XY,-1,der(3)t(1;3)(q11;q11),?-4,der(9)t(9;14)(p11;p13),-22h

−+/++

13R

71/M

T11

5

SI, RT

R 6, DoD 50

47-48,XY,+2,inv(9)(p11q12)c,+13,-14,-16,-16,+2mar (primary tumour)h

++/++

14P

50/M

S

8

SM

NED 22

43-46,XY,-3,+12,-13,add(21)(q?21),+der(?)t(?;1)(?;q21)

++/++

15R

63/M

S

?

SW

R 157, NED 200

39-40,XY,t(1;20)(q12;q13),-3,t(6;9)(q27;q13),-10,-14,-18,-21,-22/36-40,XY,-3,t(6;9),-10,-14,-18,der(20) t(1;20),-21,-22

−+/++

16M

32/M

S

?

S, RT

R, M, DoD ∼285

33-40,X,-Y,-1,add(1)(p11)x1-2,+2,der(2;14)(q10;q10),-3,add(4)(p15),-5,-6,ins(6;?1)(q24;q25q44),-8,-9,-10, add(11)(p15),-12,der(12)t(8;12) (q13;q24),-13,-13,-15,add(16)(q22),-17,-18,-20,-21,-21,-22,+der(?) t(?;13) (?;q13),+1-4r,+4marh

++/++

17R

59/M

S

?

SW

NED 64

ND

ND

18P

85/F

S

?

SI

DoC 20

ND

ND

19P

66/M

S

?

SM

AwD 48

ND

ND

20P

68/F

S

?

SW

M 48, AwD 48

ND

ND

21P

50/M

S

?

SM

R 12, AwD 98

ND

ND

21R

   

SW, RT

 

ND

ND

22P 22M

52/F

S

?

SM

M 36, AWD 48

37-40,XX,der(1)t(1;13)(p21;q33),der(2)(2pter → 2q1∷6q?∷2q?∷6p? → 6pter),der(2;17)(p10;q10),-3,-5,del(6),del(9)(p11), der(11;14)(q10;q10),der(13),-14,der(20)t(6;20)(p?;q10)

ND

23P

70/M

S

?

SI, RT

LTF

ND

ND

24P 24R

66/M

S

?

SM, SW, RT

R 36, NED 52

ND

ND

25R

57/M

S

?

SI, RT

M, LTF

ND

ND

26R1 26R2

42/F

S

?

SI, RT, SI

R 204, AwD 210

ND

ND

  1. aCGH=array comparative genomic hybridisation; COBRA=combined binary ratio; F=female; FISH=fluorescence in situ hybridisation; M=male.
  2. aP=primary tumour; R=local recurrence; M=metastasis.
  3. bS=sacrum; C=coccyx; T=thoracal vertebra.
  4. cLargest diameter in cm.
  5. dSI=intralesional excision; RT=radiotherapy (postoperative); IFN=interferon; SM=marginal excision; SW=wide excision; S=surgery, not otherwise specified.
  6. eFollow-up in months. R=local recurrence (time to local recurrence in months specified when known); AwD=alive with disease; M=metastasis (time to metastasis in months specified when known); DoD=dead of disease; NED=no evidence of disease; DoC=dead of other causes; LTF=lost to follow-up.
  7. fKaryotypes based on G-banding, COBRA-FISH, and aCGH results. ND=not determined.
  8. g(+) and (−) indicate presence and absence, respectively, of signals from the probe. ND=not determined.
  9. hKaryotypes previously published (Mertens et al, 1994; Kuzniacka et al, 2004).
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