Cytogenetic findings and mutation characteristics of 14 patients with t-MNs
Patient ID . | t-MN type . | Cytogenetic findings . | Gene . | Amino acid change . | VAF CHIP, % . | VAF t-MN, % . | Detected CNA in CHIP . | Clonal fraction, % . |
---|---|---|---|---|---|---|---|---|
UID12766 | t-AML | Normal | WT1 | p.S381X | ND | 14.75 | ND | |
UID984 | t-MDS | 46∼47,XY,+X,del(7)(q11.2),r(7),add(9)(q12) | ND | ND | ND | Chr 7 loss | 18 | |
UID10164 | t-MDS | 46, XX, +1, der(1;7)(q10;p10) | RUNX1 | p.L98fs | 3.69 | 23.27 | ND | |
UID6982 | t-AML | 46, XY, del(5)(q15q33) | IDH2 | p.R140Q | 15.83 | 45.51 | ND | |
SRSF2 | p.P95delinsRP | 13.76 | 25.32 | |||||
UID488 | t-MDS | Normal | DNMT3A | p.R882P | 19.93 | 33.14 | ND | |
IDH2 | p.R172K | ND | 15.46 | |||||
UID36491 | t-MDS | 42, X, −Y, del(1)(q21), del(7)(q11.2q31), del(14)(q12q21), −16, −18, 21, −22, −22, +2mar[11], 44, X, −Y, del(1)(q21), del(7)(q11.2q31), del(14)(q12q21), −18, −21, +mar[5], 46, XY[4] | TP53 | p.H193R | 22.31 | 73.09 | Chr 7 loss | 14 |
Chr 16 loss | 12 | |||||||
Chr 18 loss | 18 | |||||||
UID4473 | t-MDS | Normal | TET2 | p.L1212X | 5.29 | 45.34 | ND | |
UID17285 | t-MDS | 45, XY, add(2)(p12), −5, −7, t(11;17)(q13;p11.2), +mar | TET2 | p.Y1255X | 8.45 | 18.06 | ND | |
TP53 | p.Y205C | 8.57 | 22.31 | |||||
U2AF1 | p.Q157P | 3.92 | 11.73 | |||||
UID19684 | t-MDS | 46, XY, −7, +22 | DNMT3A | p.R882C | 18.85 | 47.06 | Chr 7 loss | 36 |
NRAS | p.G13V | 7.65 | 8.82 | Chr 22 gain | 26 | |||
PTPN11 | p.G60V | 4.31 | 14.81 | |||||
UID7393 | t-AML | 46, XY, del(5)(q13q33), 46, XY, der(3;5)(q10;p10), +8 | KRAS | p.G12A | ND | 10.28 | ND | |
NRAS | p.G13R | ND | 17.1 | |||||
TP53 | p.Y107X | 0.92 | 97.16 | |||||
UID49278 | t-AML | 45, X, −Y | FLT3 | p.D593delinsEAPGEVD | 0.98 | 22.45 | ND | |
GNB1 | p.K57E | 28.53 | 37.79 | |||||
KDM6A | p.R658X | 1.19 | 72.12 | |||||
RAD21 | p.E553X | ND | 41.2 | |||||
RUNX1 | p.G165fs | ND | 20.66 | |||||
RUNX1 | p.R204X | 0.68 | 30.67 | |||||
SRSF2 | p.P85H | 36.92 | 33.58 | |||||
UID12484 | t-AML | 45, XY, der(7;17)(p10;q10) | TP53 | p.L194H | ND | 41.97 | ND | |
UID19304 | t-MDS | 46, XX, inv(3)(q21q26.2) | GATA2 | p.Y322_M325delinsW | ND | 33.7 | ND | |
UID31000 | t-AML | 44, XY, del(5)(q13), add(7)(q11.2), −11, −12, −17, −17, +r, +mar | TET2 | p.H1380Y | 8.74 | 21.21 | ND |
Patient ID . | t-MN type . | Cytogenetic findings . | Gene . | Amino acid change . | VAF CHIP, % . | VAF t-MN, % . | Detected CNA in CHIP . | Clonal fraction, % . |
---|---|---|---|---|---|---|---|---|
UID12766 | t-AML | Normal | WT1 | p.S381X | ND | 14.75 | ND | |
UID984 | t-MDS | 46∼47,XY,+X,del(7)(q11.2),r(7),add(9)(q12) | ND | ND | ND | Chr 7 loss | 18 | |
UID10164 | t-MDS | 46, XX, +1, der(1;7)(q10;p10) | RUNX1 | p.L98fs | 3.69 | 23.27 | ND | |
UID6982 | t-AML | 46, XY, del(5)(q15q33) | IDH2 | p.R140Q | 15.83 | 45.51 | ND | |
SRSF2 | p.P95delinsRP | 13.76 | 25.32 | |||||
UID488 | t-MDS | Normal | DNMT3A | p.R882P | 19.93 | 33.14 | ND | |
IDH2 | p.R172K | ND | 15.46 | |||||
UID36491 | t-MDS | 42, X, −Y, del(1)(q21), del(7)(q11.2q31), del(14)(q12q21), −16, −18, 21, −22, −22, +2mar[11], 44, X, −Y, del(1)(q21), del(7)(q11.2q31), del(14)(q12q21), −18, −21, +mar[5], 46, XY[4] | TP53 | p.H193R | 22.31 | 73.09 | Chr 7 loss | 14 |
Chr 16 loss | 12 | |||||||
Chr 18 loss | 18 | |||||||
UID4473 | t-MDS | Normal | TET2 | p.L1212X | 5.29 | 45.34 | ND | |
UID17285 | t-MDS | 45, XY, add(2)(p12), −5, −7, t(11;17)(q13;p11.2), +mar | TET2 | p.Y1255X | 8.45 | 18.06 | ND | |
TP53 | p.Y205C | 8.57 | 22.31 | |||||
U2AF1 | p.Q157P | 3.92 | 11.73 | |||||
UID19684 | t-MDS | 46, XY, −7, +22 | DNMT3A | p.R882C | 18.85 | 47.06 | Chr 7 loss | 36 |
NRAS | p.G13V | 7.65 | 8.82 | Chr 22 gain | 26 | |||
PTPN11 | p.G60V | 4.31 | 14.81 | |||||
UID7393 | t-AML | 46, XY, del(5)(q13q33), 46, XY, der(3;5)(q10;p10), +8 | KRAS | p.G12A | ND | 10.28 | ND | |
NRAS | p.G13R | ND | 17.1 | |||||
TP53 | p.Y107X | 0.92 | 97.16 | |||||
UID49278 | t-AML | 45, X, −Y | FLT3 | p.D593delinsEAPGEVD | 0.98 | 22.45 | ND | |
GNB1 | p.K57E | 28.53 | 37.79 | |||||
KDM6A | p.R658X | 1.19 | 72.12 | |||||
RAD21 | p.E553X | ND | 41.2 | |||||
RUNX1 | p.G165fs | ND | 20.66 | |||||
RUNX1 | p.R204X | 0.68 | 30.67 | |||||
SRSF2 | p.P85H | 36.92 | 33.58 | |||||
UID12484 | t-AML | 45, XY, der(7;17)(p10;q10) | TP53 | p.L194H | ND | 41.97 | ND | |
UID19304 | t-MDS | 46, XX, inv(3)(q21q26.2) | GATA2 | p.Y322_M325delinsW | ND | 33.7 | ND | |
UID31000 | t-AML | 44, XY, del(5)(q13), add(7)(q11.2), −11, −12, −17, −17, +r, +mar | TET2 | p.H1380Y | 8.74 | 21.21 | ND |
Chr, chromosome; ND, not detected; t-AML, therapy-related acute myeloid leukemia; t-MDS, therapy-related myelodysplastic syndrome.