Baseline clinical and molecular characteristics of the patient cohort
| Patient information . | Genomic information . | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient . | Age (y) . | Sex . | MDS subtype (WHO 2008 classification) . | . | Duration of azacitidine therapy (d) . | Best response (IWG criteria) . | Outcome at last follow-up (IWG criteria) . | Karyotype . | Mutations detected at baseline . | BM MAF at baseline (%) . | Detected in plasma . | ||
| R-IPSS (score/category) . | Gene . | AA change . | COSMIC ID . | ||||||||||
| AZA001 | 72 | M | RAEB-1 | 3.5 /intermediate | 160 | SD | SD | Normal | IDH2 | R140Q | COSM41590 | 40.5 | Yes |
| AZA003 | 68 | M | RAEB-2 | 6.5/very high | 311 | CR-M | PD | t(11,17) | SRSF2 | P95_R102del(#) | COSM146289 | 87.4 | Yes |
| RUNX1 | Y196Nfs17(#) | 29.7 | Yes | ||||||||||
| AZA004 | 71 | M | RAEB-2 | 6.5/very high | 456 | CR-M | CR-M | Normal | TET2 | D1376V | 9.4 | Yes | |
| TET2 | N1890I | 30.8 | Yes | ||||||||||
| AZA005 | 67 | M | RCMD | 3/low | 543 | HI-P | HI-P | Normal | TET2 | Q323*(#) | COSM132895 | 23.7 | Yes |
| TET2 | V1718L | COSM41742 | 18 | No | |||||||||
| SRSF2 | P95H | COSM211504 | 23.8 | Yes | |||||||||
| AZA006 | 82 | M | RAEB-2 | 4/intermediate | 358 | CR-M | CR-M | Del Y | |||||
| AZA007 | 73 | M | RCUD | 2/low | 701 | HI-P | PD | Normal | SRSF2 | P95H | COSM211504 | 39.4 | Yes |
| KRAS | A59G* | COSM28518 | 6.2 | Yes | |||||||||
| AZA008 | 81 | M | RAEB-2 | 6/high | 683 | CR-M | PD | Trisomy 8 | ASXL1 | K1034Efs12(#) | 9.2 | Yes | |
| AZA009 | 70 | F | RAEB-1 | 5/high | 407 | SD | PD | Trisomy 8 | NRAS | G13D | COSM573 | 2.2 | Yes |
| AZA011 | 67 | M | RCMD | 2.5/low | 1492 | CR-P | CR-P | Del 9q | TET2 | P761Lfs52 | COSM211689 | 46.5 | Yes |
| U2AF1 | S34F | COSM166866 | 50.4 | Yes | |||||||||
| CBL | H398Y | COSM34075 | 43.1 | Yes | |||||||||
| AZA013 | 67 | M | Hypoplastic MDS (RCMD) | 3.5 /intermediate | 105 | SD | PD | Normal | |||||
| AZA014 | 75 | M | RAEB-1 | 7/very high | 424 | HI-N | PD | Trisomy 8 | RUNX1 | R166Q(#) | COSM36055 | 59.8 | Yes |
| Trisomy 21 | U2AF1 | S34Y | COSM146287 | 60.5 | Yes | ||||||||
| KRAS | G12S | COSM517 | 12.4 | Yes | |||||||||
| AZA015 | 74 | M | RAEB-2 | 6.5/very high | 347 | CR-M | PD | Normal | U2AF1 | Q157P(#) | COSM211534 | ND | Yes |
| Patient information . | Genomic information . | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient . | Age (y) . | Sex . | MDS subtype (WHO 2008 classification) . | . | Duration of azacitidine therapy (d) . | Best response (IWG criteria) . | Outcome at last follow-up (IWG criteria) . | Karyotype . | Mutations detected at baseline . | BM MAF at baseline (%) . | Detected in plasma . | ||
| R-IPSS (score/category) . | Gene . | AA change . | COSMIC ID . | ||||||||||
| AZA001 | 72 | M | RAEB-1 | 3.5 /intermediate | 160 | SD | SD | Normal | IDH2 | R140Q | COSM41590 | 40.5 | Yes |
| AZA003 | 68 | M | RAEB-2 | 6.5/very high | 311 | CR-M | PD | t(11,17) | SRSF2 | P95_R102del(#) | COSM146289 | 87.4 | Yes |
| RUNX1 | Y196Nfs17(#) | 29.7 | Yes | ||||||||||
| AZA004 | 71 | M | RAEB-2 | 6.5/very high | 456 | CR-M | CR-M | Normal | TET2 | D1376V | 9.4 | Yes | |
| TET2 | N1890I | 30.8 | Yes | ||||||||||
| AZA005 | 67 | M | RCMD | 3/low | 543 | HI-P | HI-P | Normal | TET2 | Q323*(#) | COSM132895 | 23.7 | Yes |
| TET2 | V1718L | COSM41742 | 18 | No | |||||||||
| SRSF2 | P95H | COSM211504 | 23.8 | Yes | |||||||||
| AZA006 | 82 | M | RAEB-2 | 4/intermediate | 358 | CR-M | CR-M | Del Y | |||||
| AZA007 | 73 | M | RCUD | 2/low | 701 | HI-P | PD | Normal | SRSF2 | P95H | COSM211504 | 39.4 | Yes |
| KRAS | A59G* | COSM28518 | 6.2 | Yes | |||||||||
| AZA008 | 81 | M | RAEB-2 | 6/high | 683 | CR-M | PD | Trisomy 8 | ASXL1 | K1034Efs12(#) | 9.2 | Yes | |
| AZA009 | 70 | F | RAEB-1 | 5/high | 407 | SD | PD | Trisomy 8 | NRAS | G13D | COSM573 | 2.2 | Yes |
| AZA011 | 67 | M | RCMD | 2.5/low | 1492 | CR-P | CR-P | Del 9q | TET2 | P761Lfs52 | COSM211689 | 46.5 | Yes |
| U2AF1 | S34F | COSM166866 | 50.4 | Yes | |||||||||
| CBL | H398Y | COSM34075 | 43.1 | Yes | |||||||||
| AZA013 | 67 | M | Hypoplastic MDS (RCMD) | 3.5 /intermediate | 105 | SD | PD | Normal | |||||
| AZA014 | 75 | M | RAEB-1 | 7/very high | 424 | HI-N | PD | Trisomy 8 | RUNX1 | R166Q(#) | COSM36055 | 59.8 | Yes |
| Trisomy 21 | U2AF1 | S34Y | COSM146287 | 60.5 | Yes | ||||||||
| KRAS | G12S | COSM517 | 12.4 | Yes | |||||||||
| AZA015 | 74 | M | RAEB-2 | 6.5/very high | 347 | CR-M | PD | Normal | U2AF1 | Q157P(#) | COSM211534 | ND | Yes |
MAF based on dPCR. MAF based on TS are marked with (#).
CR-M, complete response, marrow; CR-P, complete response, PB; d, days; Del, deletion; F, female; HI-N, hematological improvement, neutrophils; HI-P, hematological improvement, platelets; IWG, International Working Group; M, male; ND, not determined; PD, progressive disease; RAEB, refractory anemia with excess blasts; RCMD, refractory cytopenia with multilineage dysplasia; R-IPSS, Revised International Prognostic Scoring System; SD, stable disease; WHO, World Health Organization; y, years.