Table 1 Summary of published AML patients with t(5;18)(q35;q21) and present patient with ins(18;5)(q21;q31q35)
Reference | Patient 1[12] | Patient 2[13] | Present case |
|---|---|---|---|
Age (yr) | 42 | 73 | 37 |
Gender | Female | Male | Male |
WBC (×10 9 /L) | 48.1 | 12.0 | 4.5 |
Platelets (×10 9 /L) | 56 | 65 | 24 |
Hgb (mM) | 6.0a | 7.2a | 5.1 |
BM Morphology: Blast (%), cell size, cellularity | 80%, large size, hypocellular | 60%, large size | 80%, medium size, hypercellular |
Immunophenotype | CD4+, CD13+, CD33+, HLA-DR+, CD38+, CD11c+, CD117+ | CD13+, CD33+, HLA-DR+, CD117+, MPO- | CD4+, CD7+, CD13+, CD33+, CD117+, MPO+, CD56-, CD34-, TdT- |
Diagnosis | AML-M2 (de novo) | AML-M2 (de novo) | AML-M1 (de novo) |
Cytogenetics | 46,XX,t(5;18)(q35;q21)[14] | 46,XY,t(5;18)(q35;q21)[2]/46,XY[12] | 46,XY,ins(18;5)(q21.1;q31.2q35.1)[25] |
aCGH findings | No information | No information | 0.16 Mb amplification @12q21.1 |
0.37 Mb deletion @5q31.2 | |||
1.98 Mb deletion @5q35.1q35.2 | |||
2.07 Mb deletion @18q12.3q21.1 | |||
Gene Mutations | No information | FLT3 ITD | FLT3 ITD, NMP1 wt |
Outcome | BMT in CR1 | Obtained CR1 | Obtained CR1, karyotype 46,XY[25], |
Relapse with t(5;18)(q35;q21) and a secondary t(3;12)(p23;p13) | BMT planned in CR1 | ||
Died 18 months after initial diagnosis |