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Table 1 Cases in which microarray analysis detected aberrations identified by chromosome analysis or FISH†

From: Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis

Case

Karyotype

FISH

Percent Abnormal by FISH

Array Results

Size

1

46,XY,del(11)(q21q23.3)[6]/46,XY[12]

nuc ish(CCND1,IGH@)x2 [217/217]

nuc ish(CD82x2),(ATMx1)[138/200] nuc ish(CD82x2),(ATMx0)[29/200]

nuc ish(pBR12,APAF1)x2[209/209] nuc ish(D13S319x1),(LAMP1x2)[129/200]

nuc ish(TP53,ERBB2)x2[200/200]

0

69

14.5

0

64.5

0

del chr11:90634258-113746962 (11q14.3q23.2)

del chr13:47624176-49406099 (13q14.2q14.3)

del chr11:47479616-49590709 (11p11.2p11.12)

del chr11:84811642-86481659 (11q14.1q14.2)

23.1 Mb

1.8 Mb

2.1 Mb

1.7 Mb

2

46,XX,der(3)del(3)(p13p21)inv(3)(p21p24),der(6)del(6)(q15q21)inv(6)(p21.3q23)[13]/46,XX[7]

nuc ish(CD82,ATM)x2[200/200]

nuc ish(D13S319x1),(LAMP1x2)[157/200]

IGH postive with 149/200 (74.5%) positive with loss of 5' signal in majority of cells.

0

78.5

del chr13:48903923-49406099 (13q14.3q14.3)

del chr14:105267349-106339477 (14q32.33q32.33)

dup chr1:912529-3454889 (1p36.33p36.32)

del chr3:23938864-24184494 (3p24.2p24.2)

del chr3:36967519-37301610 (3p22.2p22.2)

del chr3:38387176-38681540 (3p22.2p22.2)

del chr6:31007155-31476070 (6p21.33p21.33)

del chr6:43741228-45692992 (6p21.1p12.3)

del chr6:65600819-65840071 (6q12q12)

del chr6:95941606-99824130 (6q16.1q16.2)

del chr6:106626906-116596208 (6q21q22.1)

dup chr13:113525857-113954547 (13q34q34)

dup chr20:59074507-62317284 (20q13.33q13.33)

del chr22:21330008-21570697 (22q11.22q11.22)

502 kb

1.1 Mb

2.5 Mb

246 kb

334 kb

294 kb

469 kb

2.0 Mb

239 kb

3.9 Mb

10.0 Mb

429 kb

3.2 Mb

241 kb IGL

5

42,X,-X,t(1;9)(q25;p13),add(5)(p13),der(8)t(8;13)(q13;q14),-9,der(12)t(12;?14) (q13;q11.2),

-13,inv(14)(q11.2q32),

psu dic(15;3)(p11.2;q27),der(17;21)(q10;q10),+der(17)t(17;21)(q10;q10)del(17)(q25)[15]/45,XX,t(1;10)(q21;q22),add(3)(q21),t(4;21)(q25;p11.2),t(6;19)(q21;p13.1),-9,del(9)(p13p24),inv(14)(q11.2q32), psu dic(15;3)(p11.2;q27),der(17;21)(q10;q10),+21[3]

43,XX,t(2;16)(q13;q22),del(7)(q22q32),der(8)t(8;13)(q13;q14),-9,add(9)(p13),der(12)t(12;?14)(q13;q11.2),

inv(14)(q11.2q32),psu dic(15;3)(p11.2;q27),der(17;21)(q10;q10)del(17)(q25),+der(17;21)(q10;q10)add(21)(q22)[2]

nuc ish(TP53x1),(ERBB2x2)[139/200]

nuc ish(TP53x1),(ERBB2x3)[9/200]

69.5

4.5

del chr17:0-21055067 (17p13.3p11.2)

dup chr17:23775933-78654742 (17q11.2q25.3)

dup chr1:912529-3548139 (1p36.33p36.32)

del chr1:221094574-222727272 (1q41q42.12)

del chr1:229351994-229691388 (1q42.2q42.2)

del chr3:115404001-124892494 (3q13.31q21.1)

dup chr3:127341829-129920493 (3q21.2q21.3)

del chr3:133426459-133822407(3q22.1q22.1)

dup chr3:136891829-139071546 (3q22.3q23)

del chr3:173687986-180776184 (3q26.3126.33)

del chr5:1371093-12586305 (5p15.33p15.2)

del chr8:77643686-79802767 (8q21.11q21.12)

del chr8:115351618-115731259 (8q23.3q23.3)

del chr9:188707-27863525 (9p24.3p21.2)

del chr9:38261089-119714054 (9p13.1q33.1 )

dup chr12:2267492-5164844 (12p13.33p13.32)

del chr12:84097500-132289534 (12q21.31q24.33)

dup chr21:14429720-46912065(21q11.2q22.3)

del chr22:21044595-21570697 (22q11.22q11.22)

del chrX:32390785-154763822 (Xp21.1q28)

21.1 Mb

54.9 Mb

2.6 Mb

1.6 Mb

339 kb

10 Mb

2.6 Mb

396 kb

2.2 Mb

7.1 Mb

11.2 Mb

2.2 Mb

380 kb

27.7 Mb

81.5 Mb

2.9 Mb

48.2 Mb

Trisomy

526 kb

122 Mb

6

46,XY,t(4;13)(q31.3;q14),del(11)(q13q23)[13]/46,XY[7]

nuc ish(CD82x2),(ATMx1)[20/200]

nuc ish(TP53,ERBB2)x2[199/200]

10.0

0

del chr13:46386690-49406099 (13q14.2q14.3)

del chr11:49408635-49590709 (11p11.12p11.12)

del chr3:166401814-166712788(3q26.1q26.1)

del chr11:79505241-113746962 (11q14.1q23.2)

del chr14:105267349-106339477 (14q32.33q32.33)

del chr22:21330008-21570697 (22q11.22q11.22)

3.0 Mb

182.1 kb

311 kb

34.2 Mb

1.1 Mb

241 kb

9

46,XY,del(11)(q13q23)[4]/

46,XY[16]

nuc ish(D11Z1x2),(ATMx1)[12/211]

nuc ish(DDIT3)x2[204/204]

nuc ish(D13S319x1),(LAMP1x2)[10/200]

nuc ish(CCND1,IGH@)x2[215/215]

nuc ish(TP53x2),17cen(x2)[197/200]

5.7

0

5.0

0

0

del chr11:79505241-106371868 (11q14.1q22.3)

del chr13:46386690-48065782 (13q14.2q14.2)

26.9 Mb

1.7 Mb

11§

45,XY,t(1;6)(p34.3;p23),der(14)?inv(14)(q22q32)t(8;14)(q21.2;q32.3),psu dic(20;17)(p12;p11.2)[2]/45,sl,der(9)t(8;9)(q22;q34)[3]/44,sdl1,-4,der(18)t(4;18)(q12;p11.2)[2]/

88,sdl2x2,+9,+9,-der(9)t(8;9)(q22;q34)x2[cp5]/46,XY[8]

nuc ish(D11Z1,ATM)x4[74/213]

nuc ish(DDIT3)x4[72/250]

nuc ish(D13S319,LAMP1)x4[60/269]

nuc ish(CCND1,IGH@)x4[75/200]

nuc ish(TP53x1),17cen(x2)[55/200]

nuc ish(TP53x2),17cen(x4)[67/200]

34.7

28.8

22.3

62.5

27.5

33.5

del chr4:12959459-96181870 (4p15.33q22.3)

dup chr8:86064184-146236298 (8q21.2q24.3)

del chr13:46386690-47967723 (13q14.2q14.2)

del chr14:87377280-94457872 (14q31.3q32.13)

del chr15:34882707-41330584 (15q14q15.2)

del chr17:1-21055067 (17p13.3p11.2)

del chr18:140284-5368662 (18p11.32p11.31)

del chr20:9944-7553629 (20p13p12.3)

dup chr20:16086026-19632379 (20p12.1p11.23)

del chr22:21330008-21570697 (22q11.22q11.22)

83.2 Mb

60.2 Mb

1.6 Mb

7.1 Mb

6.5 Mb

21.1 Mb

5.23 Mb

7.5 Mb

3.6 Mb

240 kb IGL

12

47,XX,+12[2]/

47,+12,t(2;14)(p13;q32.1)[5]/46,XX[15]

nuc ish(CD82,ATM)x2[262/263]

nuc ish(pBR12,APAF1)x3 [91/200]

nuc ish(D13S319,LAMP1)x2[203/204]

nuc ish(CCND1,IGH@)x2[224/224]

nuc ish(TP53,ERBB2)x2[200/200]

0

45.5

0

0

0

dup chr12:74345-132349534

Trisomy

13

46,XY,der(1)del(1)(p21p32)t(1;11;3)(q23;q23;q23),t(1;11;3)(q23;q23;q23)[4]

Constitutional Cell Line: 46,XY[15]

nuc ish(CD82,ATM)x2[199/200]

nuc ish(MLLx2)[209/209]

nuc ish(Pbr12,APAF1)x2[200/200]

nuc ish(D13S319,LAMP1)x2[210/211]

nuc ish(TP53,ERBB2)x2[200/200]

0

0

0

0

0

del chr1:63608956-78245151 (1p31.3p31.1)

del chr1:96795246-110397675 (1p21.3p13.3)

del chr1:118792737-119283944 (1p12p12)

dup chr17:9926840-10302007 (17p13.1p13.1)

14.6 Mb

13.6 Mb

491 kb

375 kb

14§

90 < 4n > XXYY,+3,add(9)(p13)x2,der(12)t(11;12)(q13;q24.3)x2,add(17)(p11.2)x2,-18,-18,-19[3]/

90,sl,add(1)(p32),del(?15)(q11.2)[5]/87,sdl1,-add(1)(p32),-3,-6, del(14)(q24)[2]/46,XY[10]

nuc ish(CD82x4),(ATMx6)[112/219]

nuc ish(pBR12,APAF1)x2[65/243]

nuc ish(pBR12,APAF1)x4[178/243]nuc nuc

nuc ish(D13S319,LAMP1)x4[135/208]

nuc ish(CCND1x6)[13/220]

nuc ish(CCND1x6),(IGH@x4)[127/220]

nuc ish(TP53x2),(ERBB2x4)[139/200]

nuc ish(CCND1,IGH@)x2[112/200]

IGH break-apart showed 15.5% with normal pattern (2F), 6.2% with a 4F pattern, 55.9%

with 2F/2R pattern, 22.4% with a 2F/1R (sdl 2) pattern.

51.1

73.3

64.9

5.9

57.7

69.5

dup chr11:66842920-134431368 (11q13.1q25)

del chr17:1-22098241 (17p13.3p11.2)

del chr1:912529-45151506 (1p36.33p34.1)

dup chr2:44073-64590503 (2p25.3p14)

dup chr3:46141-199230435

dup chr8:117699992-120401821 (8q23.3q24.1)

del chr9:22407649-22847775 (9p21.3p21.3)

dup chr10:3607230-9585338 (10p15.2p14)

del chr12:122218562-132289534 (12q24.31q24.33)

del chr14:105267349-106339477 (14q32.33q32.33)

del chr15:22577151-100126412

del chr18:140284-46969866 (18p11.32q21.2)

del chr19:211754-63770533

67.6 Mb

22.1 Mb

44.2 Mb

65.5 Mb

Trisomy

2.7 Mb

440 kb

6.0 Mb

10.1 Mb

1.1 Mb

Monosomy

46.8 Mb

Monosomy

15

46,XY,del(11)(q21q23)[3]/

46,XY[24]

nuc ish(D13S319,LAMP1)x2[99/200]

nuc ish(CD82x2),(ATMx1)[14/200]

0

7.0

del chr11:90736134-113746962 (11q14.3q23.2)

del chr5:141914285-145952287 (5q31.3q32)

del chr16:21509120-21698983 (16p12.2p12.2)

23.0 Mb

4.0 Mb

190 kb

19

47,XY,+12[17]/46,XY[3]

nuc ish(CD82,ATM)x2[200/200]

nuc ish(pBR12,APAF1)x3[172/200]

nuc ish(D13S319,LAMP1)x2[216/216]

nuc ish(CCND1,IGH@)x2[212/212]

nuc ish(TP53,ERBB2)x2[200/200]

0

86.0

0

0

0

dup chr12:74345-132289534

del chr2:219234883-220344370 (2q35q35)

del chr14:72506787-72834048 (14q24.2q24.2)

del chr14:105267349-106339477 (14q32.33q32.33)

Trisomy

1.1 Mb

327 kb

1.1 Mb

IGH

20

46,XY,add(11)(q23)[4]/46,sl,del(2)(q13q31),del(9)(p13p22),del(11)(q21q23)[3]/46,XY,inv(12)(p13q22)[6]/46,XY[7]

nuc ish(CD82x2),(ATMx1)[15/200]

nuc ish(pBR12,APAF1)x2[200/200]

nuc ish(D13S319x1),(LAMP1x2)[40/250]

nuc ish(CCND1,IGH@)x2[205/205]

nuc ish(TP53,ERBB2)x2[200/200]

nuc ish(CDKN2Ax1)[70/200]

7.5

0

16.0

0

0

35.0

del chr13:45167078-76782310 (13q14.12q22.3)

del chr9:14515097-22847775 (9p22.3p21.3)

del chr2:95110968-151785533 (2q11.1q23.3)

del chr3:46141-33554787 (3p26.3p22.3)

del chr5:110467739-115587530 (5q22.1q23.1)

del chr6:85275259-106796313 (6q14.3q21)

del chr8:345060-111175147 (8p23.3q23.2)

del chr11:100299542-118463179 (11q22.1q23.3)

del chr14:105267349-105437150 (14q32.33q32.33)

dup chr17:43041299-78654742 (17q21.32q25.3)

31.6 Mb

8.3 Mb

56.7 Mb

33.5 Mb

5.1 Mb

21.8 Mb

110.8 Mb

18.2 Mb

170 kb

35.6 Mb

21

46,XY,del(11)(q13q23)[4]/46,sl,add(2)(p23),add(3)(p25),add(8)(q24.1),add(12)(q22)[5]/45,sl,add(8)(q24.1),del(8)(p11.2p21),-13,der(22)t(13;22)(q14;p11.2)[6]/46,XY[8]

nuc ish(CCND1,IGH@)x2[211/211]

nuc ish(D11Z1x2),(ATMx1)[163/207]

nuc ish(DDIT3)x2[244/244]

nuc ish(D13S319x1),(LAMP1x2)[27/200]

nuc ish(D13S319x0),(LAMP1x2)[152/200]

nuc ish(TP53x2),17cen(x2)[210/210]

0

78.7

0

13.5

76.0

0

del chr11:84811642-126916549 (11q14.1q24.2)

del chr13:46660529-49406099 (13q14.2q14.3)

del chr11:49408635-49590709 (11p11.12)

dup chr2:60466431-61759445 (2p16.1p15)

del chr6:55544176-78754776 (6p12.1q14.1)

del chr8:2530350-5909600 (8p23.2p23.2)

del chr8:39514037-39797061 (8p11.22p11.22)

del chr8:13967960-17118468 (8p22p22)

del chr8:115351618-116782788 (8q23.3q23.3)

del chr11:49408635-49590709 (11p11.12p11.12)

42.1 Mb

2.75 Mb

182.1 kb

1.3 Mb

23.2 Mb

3.4 Mb

768 kb

3.2 Mb

1.4 Mb

182 kb

22

N.D.

nuc ish(D11Z1,ATM)x2[214/214] cells

nuc ish(DDIT3)x3[18/205]

nuc ish(D13S319x1),(LAMP1x2) [63/200]

nuc ish(CCND1,IGH@)x2[214/215]

nuc ish(TP53x2),17cen(x2)[199/200]

0

8.8

31.5

0

0

dup chr12:74345-132289534

del chr13:48903923-49406099 (13q14.3q14.3)

del chr6:155195287-155551631(6q25.2q25.2)

del chr14:105267349-105437150 (14q32.33q32.33)

del chr18:51018278-51378509(18q21.2q21.2)

Trisomy

502 kb

356 kb

170 Kb IGH

360 kb

23

46,XX[20]

nuc ish(D11Z1,ATM)x2[234/236]

nuc ish(DDIT3)x2[222/222]

nuc ish(D13S319,LAMP1)x2[203/204]

nuc ish(CCND1,IGH@)x2[210/210]

nuc ish(TP53x2),17cen(x2)[199/200]

0

0

0

0

0

del chr22:21330008-21570697 (22q11.22q11.22)

241 kb

  1. † Nonspecific chromosome aberrations such as "add" or "del" were often redefined by the microarray results and are considered to have been detected.
  2. § Tetraploidy was not detected by microarray
  3. N.D. = Not Done
  4. Chr11 FISH [BAC 351G15 (ATM/11q22.3) and BAC 222Q13 (CD82/11p11.2) probes]
  5. Chr12 FISH [12cen (pBR12) and APAF1/12q23 (BAC 210L7) probes]
  6. Chr13 FISH [LSI D13S319 (13q14.3)/LSI LAMP1 (13q34), Vysis, Inc.]
  7. Cyclin D1/IGH@ FISH [CCND1 (11q13)/IGH (14q32.3) probe, Vysis, Inc.]
  8. Chr17 FISH [TP53 (17p13.1) BAC 199f11/ERBB2 (17q21.1) BAC 62n23 probes]
  9. MLL/11q23 FISH [LSI MLL (11q23) probe, Vysis, Inc.]
  10. MYC FISH LSI C-MYC (8q24.12-q24.13) probe Vysis, Inc.
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Molecular Cytogenetics

ISSN: 1755-8166