Table 2 Clinicopathologic features and genetic mutations in isolated del(20q) patients who progressed to myeloid neoplasms.
Pt# | At initial isolated del(20q) detection | At progression | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Age/Sex | Indication | Bone marrow morphology | Mutations detected; (VAF) | Cytogenetics | Myeloid neoplasm progressed | Bone marrow morphology | Mutations detected; (VAF) | Cytogenetics | Time to progression (months) | Time to final follow-up (months) | |
1 | 75/M | Staging for primary diffuse large B-cell lymphoma of the CNS | No lymphoma present; Occasional large megakaryocytes | TP53: c.658 T > A; p.Tyr220Asn; (5.2%) | 46,XY,del(20)(q11.2q13.3)[10]/46,XY[10] | AML, likely therapy-related | 80% blasts; occasional hypogranular neutrophils; No lymphoma present | TP53: c.713 G > T;p.Cys238Phe; (10.1%) | 42-43,X,-Y,add(5)(q11.2),-6,-7,add(8)(q22),del(9)(q13q22),add(16)(q22), i(17)(q10),-18, +r[3], +mar[10][cp16]/42,sl,add(11)(q23),add(21)(p11.2)[2]/ 46,XY,del(20)(q11.2q13.3)[2] | 32.8 | 33.5 |
2 | 70/M | Hairy cell leukemia | Hairy cell leukemia (80−90%) | CBL: c.1096-1 G > C; p.? (25.3%) SF3B1: c.1998G > C; p.Lys666Asn (25.3%) BRAF: c.1799T > A; p.Val600Glu (12.8%)a | 46,XX,del(20)(q11.2q13.3)[20] | MDS/MPN, unclassifiable | Hairy cell leukemia (10−20%); Hyperlobate and hyperchromatic megakaryocytes forming clusters; ring sideroblasts (10−15%) | CBL: c.1096-1 G > C; p.? (32%) SF3B1: c.1998G > C; p.Lys666Asn; (37%) EZH2: c.1481del; p.Pro494Glnfs*20 (28%) | 46,XY,del(20)(q11.2q13.3)[9]/46,XY[6] | 40.2 | 99.0 |
3 | 70/M | Pancytopenia | Rare small, monolobate megakaryocytes | ASXL1: c.3119del;p.Ser1040Leufs*7 (12.8%) IDH1: c.394 C > T;p.Arg132Cys (32.2%) SRSF2: c.284 C > T;p.Pro95Leu (29.1%) | 46,XY,del(20)(q11.2q13.3)[2]/46,XY[18] | MDS with excess blasts-1 | Trilineage dysplasia and 8% blasts | ASXL1: c.3119del;p.Ser1040Leufs*7; (11%) IDH1: c.394 C > T;p.Arg132Cys (35%) SRSF2: c.284 C > T;p.Pro95Leu; (31%) | 46,XY,del(20)(q11.2q13.3)[1]/46,XY[19] | 1.9 | 88.0 |
4 | 73/F | Chronic neutropenia, thrombocytopenia | Rare hypogranular neutrophils; rare hypolobate/bilobate megakaryocytes | PHF6: c.941 T > C; p.Ile314Thr; (10%) TET2: c.3818 G > C; p.Cys1273Ser; (44.8%) TET2: c.4011 T > G; p.Tyr1337*; (42.7%) | 46,XX,del(20)(q11.2q13.3)[2]/46,XX[18] | MDS w/multilineage dysplasia | Trilineage dysplasia | PHF6: c.941 T > C; p.Ile314Thr; (16%) TET2: c.3818 G > C; p.Cys1273Ser; (48.2%) TET2: c.4011 T > G; p.Tyr1337*; (49.1%) WT1: probable translocation, not further classifiable (6%) | 46,XX,ider(20)(p11.1)del(20)(q11.2q13.3)[12]/46,XX,del(20)(q11.2q13.3)[5]/46,XX[3] | 53.9 | 54.3 |
5 | 58/M | Multiple myeloma follow-up | No plasma cell neoplasm; rare atypical small megakaryocytes and <1% ringed sideroblasts | DNMT3A: c.2645 G > A; p.Arg882His; (10.7%) | 46,XY,del(20)(q11.2q13.1)[8]/46,XY[12] | MDS with excess blasts-1 | Plasma cell neoplasm (50−60%); mild erythroid dysplasia megakaryocytic dysplasia and 7% blasts | ND | 45,XY,-3,i(4)(q10),add(5)(q11.2)[cp11]/46,idem, +mar[8]/46,XY[1] | 57.4 | 64.3 |
6 | 65/F | Multiple myeloma follow-up | No plasma cell neoplasm; rare atypical megakaryocytes with large and hyperlobate nuclei | IDH2: c.419 G > A; p.Arg140Gln; (12.1%) | 46,XX,del(20)(q11.2q13.3)[3]/46,XX[17] | MDS, unclassifiable | Plasma cell neoplasm (20−30%) dysmegakaryopoiesis | ND | 46,XX,del(20)(q11.2q13.3)[4]/46,XX[16] | 36.7 | 45.4 |
7 | 88/M | Idiopathic immune thrombocytopenia | Normal marrow | BCOR: c.4493dup;p.Tyr1498*; (53.4%) | 46,XY,del(20)(q11.2q13.1)[2]/46,XY[18] | AML | 25% marrow blasts; 4% circulating blasts. | BCOR: c.4493dup;p.Tyr1498*; (55%) PHF6: c.673 C > T; p.Arg225*; (22%) | 46. XY [20] | 50.6 | 56.9 |
8 | 74/F | CLL with thrombocytopenia | No CLL present; Slightly hypercellular marrow. | CBL: c.1151 G > A;p.Cys384Tyr; (46.8%) | 46,XX,del(20)(q11.2q13.3)[20] | MDS-unclassifiable | NAb | ND | ND | 3.5 | 5.8 |
9 | 55/M | Multiple myeloma follow-up | No plasma cell neoplasm present; Slightly hypercellular bone marrow | DNMT3A: c.2662del;p.Leu888Cysfs*18; (44.9%) PTPN11: c.1546 A > G; p.Met516Val; (48.5%) TET2: c.4151 A > G; p.Asp1384Gly; (45.7%) | 46,XY,del(20)(q11.2q13.1)[6]/46,XY[15] | MDS/MPN, unclassifiable | No plasma cell neoplasm present; Hypercellular (70%) marrow with dyserythropoiesis, dysmegakaryopoiesis with numerous large atypical forms forming loose clusters | ND | 46,XY,del(20)(q11.2q13.1)[5]/46,idem,add(12)(p11.2)[11]/46,XY,t(1;19)(q12;p13.3)[3]/46,XY[1] | 32.4 | 46.9 |
