Clinical and molecular characteristics of study patients at the time of sample collection
| ID . | Age/sex . | Hematologic diagnoses . | Prior treatments . | FISH . | Karyotype . | PB counts . | Mutation data . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| WBC (×109/L) . | Lymphocytes (×109/L) . | Blasts (×109/L) . | Gene . | Protein change . | VAF (%) . | ||||||
| A | 84/M | 1a. CLL* | 1. Chlorambucil | +12 | nd | 20.6 | 6.74 | 0.21 | NOTCH1 | p.Pro2514Argfs*4 | 5.2 |
| 1b. PMF* | 2. Ibrutinib | FBXW7 | p.Arg465Leu | 15.1 | |||||||
| BCOR | p.Gln1528* | 25.2 | |||||||||
| CALR | p.Leu367Thrfs*46 | 38.7 | |||||||||
| B | 76/F | 1. PET-MF with dysplastic acceleration | Hydroxyurea | Negative for t(11;14) | 46,XX,add(7)(q11.2),+8,-11, add(14)(q32),-17,+mar[10] | 16.0 | 10.14 | 0.16 | DNMT3A | p.Asn516Thrfs*135 | 20.0 |
| 2. CD5+ LPD, favor marginal zone derivation | JAK2 | p.Val617Phe | 18.4 | ||||||||
| TP53 | p.His193Pro | 21.1 | |||||||||
| C | 56/M | 1. PET-MF | Hydroxyurea | nd† | 46, XY [20] | 43.5 | 28.84 | 0 | MPL | p.Trp515Leu | 15.8 |
| 2. CLL | SRSF2 | p.Pro95His | 8.8 | ||||||||
| TET2 | p.Leu446Phefs*9 | 7.5 | |||||||||
| TET2 | p.His1219Arg | 10.3 | |||||||||
| ID . | Age/sex . | Hematologic diagnoses . | Prior treatments . | FISH . | Karyotype . | PB counts . | Mutation data . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| WBC (×109/L) . | Lymphocytes (×109/L) . | Blasts (×109/L) . | Gene . | Protein change . | VAF (%) . | ||||||
| A | 84/M | 1a. CLL* | 1. Chlorambucil | +12 | nd | 20.6 | 6.74 | 0.21 | NOTCH1 | p.Pro2514Argfs*4 | 5.2 |
| 1b. PMF* | 2. Ibrutinib | FBXW7 | p.Arg465Leu | 15.1 | |||||||
| BCOR | p.Gln1528* | 25.2 | |||||||||
| CALR | p.Leu367Thrfs*46 | 38.7 | |||||||||
| B | 76/F | 1. PET-MF with dysplastic acceleration | Hydroxyurea | Negative for t(11;14) | 46,XX,add(7)(q11.2),+8,-11, add(14)(q32),-17,+mar[10] | 16.0 | 10.14 | 0.16 | DNMT3A | p.Asn516Thrfs*135 | 20.0 |
| 2. CD5+ LPD, favor marginal zone derivation | JAK2 | p.Val617Phe | 18.4 | ||||||||
| TP53 | p.His193Pro | 21.1 | |||||||||
| C | 56/M | 1. PET-MF | Hydroxyurea | nd† | 46, XY [20] | 43.5 | 28.84 | 0 | MPL | p.Trp515Leu | 15.8 |
| 2. CLL | SRSF2 | p.Pro95His | 8.8 | ||||||||
| TET2 | p.Leu446Phefs*9 | 7.5 | |||||||||
| TET2 | p.His1219Arg | 10.3 | |||||||||
F, female; FISH, fluorescence in situ hybridization; M, male; nd, not done; PET-MF, post–essential thrombocythemia myelofibrosis; PMF, primary myelofibrosis; VAF, variant allele frequency; WBC, white blood cell count.
Simultaneous diagnoses.
Single nucleotide polymorphism array analysis showed biallelic loss of a 1.17 Mb region at chromosome 13q14 and loss of heterozygosity of chromosome 1p.