Table 2.

PML/RARα rearrangements due to insertions

Case no.*Karyotype†PML-RARαFISHPML-RARαRT-PCRRARα-PML RT-PCRPML IFIn vitro ATRA responseReference
Insertions (15;17)‡               
  1/M3 47,XY,+8/46,XY Fusion on 15q2-153 ND ND ND ND  
 2/M3 47,XY,+8/47,idem,del(9)(q23q32)/46,XY Fusion on 15q2-155 ND ND ND ND  
 3/M3 46,XY Fusion on 15q2-155,2-154 Positive (bcr3) Negative Microparticulate Positive 29(case 3)  
 4/M3 46,XX,der(19)t(8;19)(q21;p13 or q13)/46,XX Fusion on both 15q2-153,2-155 Positive (bcr3) Negative ND ND  
 5/M3 46,XX Fusion on 15q2-155 ND ND ND ND 
 6/M3 46,XY Fusion on 15q2-155,2-154 Positive (bcr1) Negative Microparticulate ND 38(case 2)  
 7/M3 46,XY Fusion on 15q2-153,2-155
 		Positive (bcr1) Negative ND ND 73  
 8/M3, M3r 45,X,−Y/46,XY Fusion on 15q2-155# Positive (bcr3) Negative Microparticulate Positive 29,39 
(case 1) 
 9/M3 47,XX,del(5)(q33q35),+i(8)(q10)/
45,XX,del(5),add(7)(q32),−21 		Fusion on 15q2-155,2-154 Positive (bcr3) Negative ND ND 38 (case 1) 
 10/M3v 46,XY Fusion on 15q2-153,2-155 Positive (bcr1) ND ND ND  
 11/M3v 46,XY Fusion on 15q2-153 Positive (bcr3) ND ND ND  
 12/M3v 47,XX,+8/46,XX Fusion on 15q2-153 Positive (bcr1) ND ND ND  
 13/M3v 46,XX Fusion on 15q2-155 ND ND ND ND  
 14/M3v 46,XY Fusion on 15q2-155,2-154 Positive (bcr3) Negative ND ND 38 (case 3) 
 15/M3 46,XY Fusion on 15q2-154 ND ND ND ND  
Insertions (17;15)‡               
  16/M3 46,XX,del(9)(q12q33)/46,XX Fusion on 17q2-160 Positive (bcr3) ND ND ND  
 17/M3 47,XY,+21/48,idem,+8/46,XY Fusion on 17q2-154 ND ND ND ND  
 18/M3 46,XX,ins(17;15)(q21;q21q22)/46,XX ND Positive (bcr1-2) ND ND ND  
 19/M3 46,XY,t(4;16)(p14;q22),t(9;12)(q22;q24),
ins(17;15)(q21;q15q22)/46,idem,t(6;8)
(q13;q22)/46,XY 		Fusion on der(17q)2-155,2-154 Positive (bcr1) Negative ND ND 38 (case 4) 
 20/M3v 46,XX PML andRARα signals on 17q# Negative Positive (bcr3) Wild-type Negative 29, 39 
(case 2) 
Probable insertions             
  21/M3 45,XY,add(2)(q37),−7,add(9)(p22)/
45,idem,add(10)(p14) 		ND Positive (bcr1) ND ND Positive  
 22/M3 46,XY ND Positive (bcr1) ND ND ND  
 23/M3 46,XX,del(7)(q22q32-34)/46,XX Fusion on nuclei2-155,2-154 Positive (bcr3) Negative Microparticulate ND 38(case 5) 
 24/M3 46,XX ND Positive ND ND ND  
 25/M3 46,XX Fusion on nuclei2-155,2-154 Positive (bcr3) Negative Microparticulate ND 38(case 6)  
 26/M3, M3r 46,XX ND Positive (bcr3) ND ND ND  
 27/M3 46,XY ND Positive ND ND ND  
 28/M3 46,XY ND Positive (bcr2) ND ND ND  
Case no.*Karyotype†PML-RARαFISHPML-RARαRT-PCRRARα-PML RT-PCRPML IFIn vitro ATRA responseReference
Insertions (15;17)‡               
  1/M3 47,XY,+8/46,XY Fusion on 15q2-153 ND ND ND ND  
 2/M3 47,XY,+8/47,idem,del(9)(q23q32)/46,XY Fusion on 15q2-155 ND ND ND ND  
 3/M3 46,XY Fusion on 15q2-155,2-154 Positive (bcr3) Negative Microparticulate Positive 29(case 3)  
 4/M3 46,XX,der(19)t(8;19)(q21;p13 or q13)/46,XX Fusion on both 15q2-153,2-155 Positive (bcr3) Negative ND ND  
 5/M3 46,XX Fusion on 15q2-155 ND ND ND ND 
 6/M3 46,XY Fusion on 15q2-155,2-154 Positive (bcr1) Negative Microparticulate ND 38(case 2)  
 7/M3 46,XY Fusion on 15q2-153,2-155
 		Positive (bcr1) Negative ND ND 73  
 8/M3, M3r 45,X,−Y/46,XY Fusion on 15q2-155# Positive (bcr3) Negative Microparticulate Positive 29,39 
(case 1) 
 9/M3 47,XX,del(5)(q33q35),+i(8)(q10)/
45,XX,del(5),add(7)(q32),−21 		Fusion on 15q2-155,2-154 Positive (bcr3) Negative ND ND 38 (case 1) 
 10/M3v 46,XY Fusion on 15q2-153,2-155 Positive (bcr1) ND ND ND  
 11/M3v 46,XY Fusion on 15q2-153 Positive (bcr3) ND ND ND  
 12/M3v 47,XX,+8/46,XX Fusion on 15q2-153 Positive (bcr1) ND ND ND  
 13/M3v 46,XX Fusion on 15q2-155 ND ND ND ND  
 14/M3v 46,XY Fusion on 15q2-155,2-154 Positive (bcr3) Negative ND ND 38 (case 3) 
 15/M3 46,XY Fusion on 15q2-154 ND ND ND ND  
Insertions (17;15)‡               
  16/M3 46,XX,del(9)(q12q33)/46,XX Fusion on 17q2-160 Positive (bcr3) ND ND ND  
 17/M3 47,XY,+21/48,idem,+8/46,XY Fusion on 17q2-154 ND ND ND ND  
 18/M3 46,XX,ins(17;15)(q21;q21q22)/46,XX ND Positive (bcr1-2) ND ND ND  
 19/M3 46,XY,t(4;16)(p14;q22),t(9;12)(q22;q24),
ins(17;15)(q21;q15q22)/46,idem,t(6;8)
(q13;q22)/46,XY 		Fusion on der(17q)2-155,2-154 Positive (bcr1) Negative ND ND 38 (case 4) 
 20/M3v 46,XX PML andRARα signals on 17q# Negative Positive (bcr3) Wild-type Negative 29, 39 
(case 2) 
Probable insertions             
  21/M3 45,XY,add(2)(q37),−7,add(9)(p22)/
45,idem,add(10)(p14) 		ND Positive (bcr1) ND ND Positive  
 22/M3 46,XY ND Positive (bcr1) ND ND ND  
 23/M3 46,XX,del(7)(q22q32-34)/46,XX Fusion on nuclei2-155,2-154 Positive (bcr3) Negative Microparticulate ND 38(case 5) 
 24/M3 46,XX ND Positive ND ND ND  
 25/M3 46,XX Fusion on nuclei2-155,2-154 Positive (bcr3) Negative Microparticulate ND 38(case 6)  
 26/M3, M3r 46,XX ND Positive (bcr3) ND ND ND  
 27/M3 46,XY ND Positive ND ND ND  
 28/M3 46,XY ND Positive (bcr2) ND ND ND  

IF indicates immunofluorescence; ND, not determined.

*

Morphology as follows: M3, hypergranular classic M3; M3v, hypogranular variant M3; M3r, M3 with more than 30% regular nuclei as defined in the accompanying manuscript by Sainty et al.1 

†

As obtained by conventional cytogenetics.

‡

As demonstrated by metaphase FISH.

F2-153

FISH performed with Vysis probe set.

F2-155

FISH performed with Oncor probe set.

F2-154

FISH performed with PML 15.5 and RARα 121 probes.

#FISH performed with PML E3 and RARα cDNA P63 probes.

F2-160

FISH performed with PML 15.22 and RARα 4D14 probes.

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