Table 3 Genetic mutations in patients who did not progress to myeloid neoplasms.
No | Age/Sex | Indication for bone marrow biopsy (% primary disease involvement) | Cytogenetics at initial isolated del(20q) detection | Mutations detected; (VAF) | Time to final follow-up (months) |
|---|---|---|---|---|---|
1 | 90/M | Anemia, thrombocytopenia | 46,XY,del(20)(q11.2q13.3)[7]/45,X,-Y[4]/46,XY[9] | ASXL1: c.1934dup; p.Gly646Trpfs*12; (6%) | 47.3 |
2 | 82/M | Pancytopenia | 46,XY,del(20)(q11.2q13.3)[6]/46,XY[14] | ASXL1: c.2120_2130del;p.Thr707Asnfs*7; (21%) RUNX1: c.1360 T > C;p.*454Argext*52; (18.3%) SRSF2: c.284 C > G;p.Pro95Arg; (25.4%) | 40.9 |
3 | 82/M | Pancytopenia with macrocytosis | 46,XY,del(20)(q11.2q13.3)[8]/46,XY[12] | U2AF1: c.101 C > T;p.Ser34Phe; (28.4%) | 27.0 |
4 | 70/M | Multiple myeloma follow-up (No plasma cell neoplasm) | 46,XY,del(20)(q11.2q13.3)[2]/46,XY[28] | First NGS: ASXL1: c.1210 C > T;p.Arg404*; (5.6%) ASXL1: c.1534 C > T;p.Gln512*; (6.7%) Second NGS: (at 71.8 months from 1st NGS) ASXL1: c.1934dup; p.Gly646Trpfs*12; (24.6%) | 82.7 |
5 | 61/M | Mantle cell lymphoma follow-up (No lymphoma present) | 46,XY,del(20)(q11.2q13.1)[13]/46,XY[7] | TET2: c.1630C > T; p.Arg544*; (29.3%) | 64.4 |
6 | 76/M | Pancytopenia | 46,XY,del(20)(q11.2q13.1)[2]/45,X,-Y[8]/46,XY[10] | TET2: c.3014del; p.Lys1005Argfs*2; (14.2%) U2AF1: c.101 C > T; p.Ser34Phe; (29.2%) ASXL1: c.1934dup; p.Gly646Trpfs*12; (24.4%) | 8.4 |
7 | 76/M | Thrombocytopenia and monoclonal gammopathy (Plasma cell neoplasm < 5%) | 46,XY,del(20)(q11.2q13.3)[20] | SRSF2: c.284 C > T; p.Pro95Leu; (33.3%) | 0.1 |
8 | 81/M | Monoclonal gammopathy (No plasma cell neoplasm present) | 46,XY,del(20)(q11.2q13.3)[6]/46,XY[14] | SF3B1: c.1998G > C;p.Lys666Asn; (43.8%) | 24.3 |
9 | 58/M | CLL (20% CLL) | 46,XY,del(20)(q11.2q13.1)[9]/46,XY[11] | SF3B1: c.2098 A > C;p.Lys700Gln; (9.9%) | 7.5 |
10 | 71/M | Staging for diffuse large B-cell lymphoma (No lymphoma present) | 46,XY,del(20)(q11.2q13.3)[4]/46,XY[16] | ASXL1: c.1900_1922del;p.Glu635Argfs*15; (15%) | 0.9 |
11 | 68/M | Diffuse large B-cell lymphoma follow-up (No lymphoma present) | 46,XY,del(20)(q11.2q13.1)[20] | TET2: c.5059 C > T;p.Gln1687*; (39.9%) | 25.6 |
12 | 85/M | High-grade B-cell lymphoma NOS follow-up (No lymphoma present) | 46,XY,del(20)(q11.2q13.3)[6]/46,XY[14] | JAK2: c.1849G > T;p.Val617Phe; (47.5%) TET2: c.3885del;p.Tyr1295*; (47.1%) TET2: c.4790del;p.Phe1597Serfs*13; (49.6%) | 0.2 |
13 | 51/F | Progressive thrombocytopenia status-post temozolomide therapy for leiomyosarcoma | 46,XX,del(20)(q11.2q13.3)[4]/46,XX[16] | DNMT3A: c.2204 A > G;p.Tyr735Cys; (8.6%) | 21.7 |
14 | 56/M | Multiple myeloma follow-up (10% plasma cell neoplasm) | 46,XY,del(20)(q11.2q13.3)[6]/46,XY[14] | PHF6: c.322_323insA;p.Ala108Aspfs*4; (8.3%) | 40.2 |
