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Table 2 Clinical and cytogenomic and molecular characteristics of patients with AML featured with 21q22 amplication

From: 21q22 amplification detection in three patients with acute myeloid leukemia: cytogenomic profiling and literature review

Pt

Age/sex

Diagnosis

Prior malignancy

Karyotype

RUNX1 FISH copy number and localization

Treatment and outcome

Molecular findings

1

77/F

t-AML

Follicular Lymphoma

45,XX,der(3)inv(3)(p25q25)add(3)(q11.2),-5,-7,+12,-14,add(14)(p11.2),+19,hsr(21)(q22)[3]/45,sl,-4,-12,+r,+mar[15]/46,sdl1,+8[2]

RUNX1x5–10: present on marker, hsr(21), add(14)

Venetoclax/Azacitadine. Died within 1.5 months

Bi-allelic TP53 pathogenic mutations

2

26/M

t-AML

Hodgkin Lymphoma

46,XY,del(7)(q22)[1]/46,idem,-Y,+der(Y)t(Y;21) (p11.3;q22.1),der(5)t(5;21)(q35;q22.1)[5]/46,idem,-Y,+der(Y)t(Y;21)(p11.2;q22.1)dup(21)(q22.1q22.3), der(9)t(9;21)(q34;q22.1)dup(21)(q22.1q22.3),der(18)t(18;21)(p11.3;q22.1)[14]

RUNX1x4–15: Yp, 5q, 9q, 18q and 22p

Palliative care. Died within 2 weeks

n/s

3

32/F

AML

None

46,XX,?r(21)dup(21)(q11.2q22)[6]/47,sl,+mar[10]/46,XX[4]

RUNX1x10

Idarubicin/cytarabine, double cord transplant. Died 11 months

n/s

  1. n/s not studied