Table 2.

Summary of cytogenetic and molecular results

Case no.	Patient 1	Patient 2	Patient 3
Cytogenetics	46,XY,inv(3)(q21q26.2)[13]/46,idem,del(7)(q22)[1]/46,XY,inv(3)(q21q26.2)x2[12]/46,XY[7]	46,XX,inv(3)(q21q26.2)x2[18]/46,XX[2]	46,XX,inv(3)(q21q26.2)x2[1]/45,idem,-7 [14]/46,XX[5]
FISH	ND	ND	MECOM/EVI1
aCGH + SNP	aCN-LOH chr3q	ND	monosomy 7 (<10 %)
Molecular study
FLT3	-	-	-
K/N-RAS	-	-	ND
PTPN11	ND	ND	+ missense mutation at a very low allelic frequency (<10 %)
CEBPA	ND	ND	+ Germline Variant

aCN-LOH acquired copy neutral loss of heterozygosity, Chr3q chromosome 3q, ND not done, “-” negative, “+” positive