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 |