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Table 1 Summary of 99 aberrations as detected by MLPA and 146 ones as detected or confirmed by iFISH; samples contributing to the discordant results of MLPA and iFISH are marked with asterisk *, ** or ‘plus-sign’ +

From: Comprehensive chronic lymphocytic leukemia diagnostics by combined multiplex ligation dependent probe amplification (MLPA) and interphase fluorescence in situ hybridization (iFISH)

Affected regions

Genes

Detected in MLPA

Detected in iFISH

amp(2)(p24.3p24.3)

MYCN

3

3

amp(2)(p23.2 ~ 23.1p23.2 ~ 23.1)

ALK

3

3

del(6)(q21q21)

FYN

1

1

del(6)(q23.3q23.3)

MYB

2

2

del(6)(q25.1q25.1)

ESR1

1

1

del(6)(q27q27)

SMOC2

1

1

amp(6)(q27q27)

SMOC2

1+

0

amp(8)(q24.21q24.21)

MYC

1

1

t(9;22)(q34;q11)

BCR and ABL

n.a.

1

del(11)(q22.3q22.3)

ATM

12

14*

+12

ETV6, CCND2,

4

6*

 

MDM2

  

del(13)(q14.2q14.2)

RB1

10

11**

del(13)(q14.2q14.2)x2

RB1

1

10**

del(13)(q14.3q14.3)

DLEU1, DLEU2,

35

46*/**

 

MIR15A

  

del(13)(q14.3q14.3)x2

DLEU1, DLEU2,

7

14**

 

MIR15A

  

del(14)(q32q32)

IGH

n.a.

13

rea(14)(q32.33) - > t(14;?)

IGH

n.a.

2

rea(14)(q32.33) - > ? + 14

IGH

n.a.

1

del(17)(p13.1p13.1)

TP53

9

10*

amp(17)(q25.1q25.2)

UNC13D

2

2

amp(18)(p11.21q11.21)

DCC

2+

1

amp(18)(q21.2q21.2)

RNMT

2+

1

amp(21)(q22.12q22.12)

RUNX1

2

2

  1. Those with * are detailed in Table 2, those with ** in Table 4. Those with + could either not be tested in iFISH due to lack of corresponding probe or, in the two of the tested samples MLPA could not be confirmed by iFISH (routine and confirmatory together), most likely due to too large FISH-probe size.