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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.