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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