MDS diagnosis and treatment and patient outcome
| UPN . | WHO categorization* . | IPSS-R . | Morphologic dysplasia lineages >10% . | Cytogenetics . | Somatic variant (VAF %) . | Treatment . | Outcome . |
|---|---|---|---|---|---|---|---|
| 3 | MDS-MLD | 3.5 | Megakaryocyte, erythroid | 46,XY,t(3;12)(q21;q13)[17]/46,XY[3] | NA | NA | Died |
| 6 | MDS-MLD | 3 | Megakaryocyte, myeloid | 46,XY,del(5)(q22q33),del(13)(q12q14)[16]/46,XY[4] | DNMT3A (42.56%)† | Lenalidomide, HMA‡ | Died |
| 10 | MDS-MLD | 4 | Megakaryocyte, myeloid, erythroid | 46,XY | DNMT3A (44.37%)† | ESA | Worsening cytopenia |
| 11 | MDS-SLD | 3 | Megakaryocyte | 46,XY | GNA11 (3.3%), CSF1R (3.12%) | Supportive transfusions | Stable disease, 9 months |
| 14 | MDS-SLD | 4 | Megakaryocyte, myeloid | 46,XY | No variant | HMA × 4 cycles (NR), supportive transfusions | Stable disease, 3 months |
| 15 | MDS-MLD | 3.5 | Megakaryocyte, myeloid | 46,XY,del(20)(q11.2q13.3)[12]/46,XY[8] | NA | NA | Died |
| UPN . | WHO categorization* . | IPSS-R . | Morphologic dysplasia lineages >10% . | Cytogenetics . | Somatic variant (VAF %) . | Treatment . | Outcome . |
|---|---|---|---|---|---|---|---|
| 3 | MDS-MLD | 3.5 | Megakaryocyte, erythroid | 46,XY,t(3;12)(q21;q13)[17]/46,XY[3] | NA | NA | Died |
| 6 | MDS-MLD | 3 | Megakaryocyte, myeloid | 46,XY,del(5)(q22q33),del(13)(q12q14)[16]/46,XY[4] | DNMT3A (42.56%)† | Lenalidomide, HMA‡ | Died |
| 10 | MDS-MLD | 4 | Megakaryocyte, myeloid, erythroid | 46,XY | DNMT3A (44.37%)† | ESA | Worsening cytopenia |
| 11 | MDS-SLD | 3 | Megakaryocyte | 46,XY | GNA11 (3.3%), CSF1R (3.12%) | Supportive transfusions | Stable disease, 9 months |
| 14 | MDS-SLD | 4 | Megakaryocyte, myeloid | 46,XY | No variant | HMA × 4 cycles (NR), supportive transfusions | Stable disease, 3 months |
| 15 | MDS-MLD | 3.5 | Megakaryocyte, myeloid | 46,XY,del(20)(q11.2q13.3)[12]/46,XY[8] | NA | NA | Died |
HMA, hypomethylating agent; IPSS-R, Revised International Prognostic Scoring System; NA, not available; NR, no response.
WHO, World Health Organization 2016 classification for myeloid neoplasm
UPN-6 had DNMT3A missense variant NM_175629.2:c.2657A>G (NP_783328.1:p.Gln886Arg) and UPN-10 had DNMT3A missense variant NM_175629.2:c.2644C>T (NP_783328.1:p.Arg882Cys).
Lenalidomide was discontinued because of rash, and HMA was given for only 1 cycle because of hospitalization for inflammatory flare.