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Table 2 Summary of cytogenetic and molecular results

From: Double inv(3)(q21q26.2) in acute myeloid leukemia is resulted from an acquired copy neutral loss of heterozygosity of chromosome 3q and associated with disease progression

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