Table 3.
Case no. | Age (years) /sex | Cytogenetics at diagnosis | Germline TP53 mutation | Mutations in BM | Blood malignancy | Time to hematological malignancy diagnosis (from the treatment of primary cancer) (years) |
---|---|---|---|---|---|---|
1 | 34/F | 44,X,add(X)(p22.1),−2,del(5)(q15q33),del(11)(p13),−12,−13,−13,−17,−17,+21,add(22)(p11.2),+3mar[6]/45,idem,+mar[9]/45,idem,+8[1]/89,XX,add(X)(p22.1)×2,−2,−2,+3,−4,del(5)(q15q33)×2,−10,del(11)(p13)×2,−12,−12,−13,−13,−13,−13,−14,−17,−17,−17,−17,+21,+21,+22,+22,add(22)(p11.2)×2, +7mar[1]/46,XX[3] | Del exons 10–11 | IDH2 | t-AML | 10 |
2 | 32/F | 45,X,der(X)t(X;3)(q22;q23),−3,add(5)(q22),der(6)t(3;6)(q13;q23),add(7)(q22),del(12)(p12),add(21)(p11.2),−22,+1∼3mar[cp20] | c.184G>T (p.E62*) and c.764T>C (p.I255T) | TP53a | t-MDS | 2 |
3 | 42/M | 44,XY,del(5)(q13),add(7)(q11.2),−11,−12,−17,−17,+r,+mar[18]/44,XY,del(5)(q13q33),add(7)(q11.2),−11,−12,−17,−17,+1∼2mar[cp2]/10 | c.800G>A (p.R267Q) and c.467G>A (p.R156H) | TET2, EGFR, TP53a | t-AML | 2 |
4 | 28/F | 44∼47,X,−X,del(9)(q13q22),−11,+17,der(17)add(17)(p11.2)add(17)(q11.2),der(17)add(17)(p11.2)hsr(11)(q23),+1∼2mar,2∼5dmin[cp20] | c.586C>T (p.R196*) | BCORL1, WT1, TP53a | t-AML | 4 |
5 | 50/F | 55∼58<2n>,XX,+X,+1,+8,+9,+10,+11,+11,+12,der(13;21)(q10;q10),i(13)(q10),+14,+19,+20,+20,+22[cp13]/46,XX,i(11)(p10)[1]/46,XX[6] | c.734G>A (p.R248Q) | BCOR, DNMT3A, TP53a | t-AML | 20 |
6 | 34/F | 62∼66,XX,−X,+1,−3,−4,−5,+6,−7,+8,−9,+12,−13,−13,−15,−16,−17,−17,+18,+18,add(20)(q13.2),+22[cp8]/46,XX[12] | c.325T>G (p.F109V) | JAK2, TP53a | ALL | 0 |
7 | 24/M | 41∼45,XY,−1,add(1)(p13),add(1)(p36.1),add(5)(q31),der(6)add(6)(p12)dup(6)(q23q23),+7,−12,−16,del(17)(p11.2),−19,+21,+1∼2mar[cp13] | c.524G>A (p.R175H) | NOTCH1, TP53a | Early precursor T-ALL | 0 |
(BM) Bone marrow, (RT) right, (t-AML) therapy-related acute myeloid leukemia, (LT) left, (t-MDS) therapy-related myelodysplastic syndrome, (DCIS) ductal carcinoma in situ, (T-ALL) T-cell acute lymphoblastic leukemia.
aGermline mutation.