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 |