TABLE 1.
Clinical and pathologic features, and response to therapy in patients with BCR-ABL1+, JAK2 V617+ myeloproliferative neoplasms
| Initial Neoplasm | Composite (BCR-ABL1+, JAK2 V617F+) MPN | Response to treatment of composite (BCR-ABL1+, JAK2 V617F+) MPN | ||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Pt # | Sex | Age | Initial Dx | BCR-ABL1 (+/−) | JAK2 V617F (+/−) Spec Type | Initial Tx | Time to Dx (Mo) | MPN Hist Features | WBC (×103/μL) | Hgb (g/dL) | Plt (×103/μL) | BCR- ABL1 (+/−) | t(9;22) (% +) | FISH (% +) | JAK2 V617F (+/−) Spec Type | JAK2 Mut allele (%) | F/U time (Mo) | Tx | WBC (×103/μL) | Hgb (g/dL) | Plt (×103/μL) | MMR | JAK2 V617F (+/−) Spec Type | JAK2 Mut allele (%) | Course | Alive/Dead |
| 1 | F | 48 | PMF | – | +* PB | none | 129 | CML | 142 | 8.3 | 557 | + e13a2 | 100 | 94 | + BM | 10–50 | 48 | Nil, Hy, Rux | 5.9 | 9.3 | 141 | Yes | + BM | 78 | MF | A |
| 2 | F | 66 | ET | – | + BM | Hy, Rux | 45 | Post-ET MF; CML | 42.0 | 10.2 | 38 | + e13a2 | 80 | ND | + BM | 24.0 | 23 | Im, Bos, Rux | 12.5 | 10.1 | 39 | No | ND | ND | MF | A |
| 3 | F | 48 | PV | – | + BM | Phleb, Hy, IFN | 58 | Post-PV MF; CML | 26.1 | 13.4 | 66 | + e13a2 | 100 | ND | + BM | 24.4 | 25 | Im, IFN, Rux | 16.1 | 13.9 | 190 | No | ND | ND | MF | A |
| 4 | F | 60 | PV | – | + PB | Hy, Th, Rux | 107 | Post-PV MF; CML | 60.2 | 8.8 | 77 | + e1a2 | 80 | 63 | + PB | >50 | 6 | Im, Hy, Th, Rux | 17.4 | 8.6 | 92 | No | ND | ND | MF | D |
| 5 | M | 76 | PV | – | ND§ | Hy | 73 | CML (AP) | 23.3 | 10 | 32 | + e1a2 | 100 | 82 | + PB | <10 | 4 | Im, Hy | 25.4 | 8.5 | 86 | No | + PB | <10 | CML (AP) | D |
| 6 | F | 49 | CML | + | ND | Im IFN | 109 | MPN, NOS | 6.9 | 12.1 | 858 | + e14a2 | – | ND | + BM | ND | 68 | Im, Das | 18.0 | 10.1 | 114 | No | + BM | 28 | MF | A |
| 7 | M | 70 | NA | NA | NA | NA | NA | CML; MF | 18.5 | 11.7 | 389 | + e14a2 | 60 | ND | + BM | ND | 76 | Im, Nil, Das, Hy Rad | 20.0 | NA | NA | No | + PB | 7.6 | MF | D |
| 8 | M | 68 | NA | NA | NA | NA | NA | CML | 13.1 | 13.6 | 670 | + e14a2 | 95 | ND | + BM | <10 | 43 | Im, Das, An | 7.2 | 11.0 | 554 | Yes | + BM | >25 | Rem | A |
| 9 | M | 49 | NA | NA | NA | NA | NA | CML; MF | 72.9 | 9.7 | 268 | + e14a2 | 100 | ND | + PB | ND | 32 | Im, Das, Allo | 35.9 | 11.8 | 91 | Yes | − BM | <1 | CML (AP) | D |
| 10 | F | 81 | NA | NA | NA | NA | NA | CML; ET | 15.7 | 13.2 | 351 | + e14a2 | 75 | ND | + BM | 18.3 | 109 | Im, Nil, An, Hy | 15.2 | 9.4 | 189 | No | ND | ND | MF CML (BP) | D |
| 11 | F | 73 | NA | NA | NA | NA | NA | CML; PV | 12.8 | 13.3 | 432 | + e1a2 | 10 | 5 | + BM | ND | 17 | Im, Phleb | 14.5 | 12.5 | 409 | No | + PB | ND | Rem | A |
Group 1: JAK2 V617F detected first, BCR-ABL1 second; Group 2: BCR-ABL1 detected first, JAK2 V617F second; Group 3: BCR-ABL1 and JAK2 V617F detected simultaneously
+, positive; −, negative; A, alive; Allo, allogeneic stem cell transplant; An, anagrelide; AP, accelerated phase; BP, blast phase; BM, bone marrow; Bos, bosutinib; CML, chronic myeloid leukemia; D, dead; Das, dasatinib; Dx, diagnosis; ET, essential thrombocythemia; F, female; F/U, follow-up; Hgb, hemoglobin; Hist, histologic; Hy, hydroxyurea; IFN, interferon-α; Im, imatinib mesylate; M, male; Mo, months; MF, myelofibrosis; MMR, major molecular response; MPN, NOS, myeloproliferative neoplasm, not otherwise specified; Nil, nilotinib; NA, not applicable; ND, not determined; PB, peripheral blood; Phleb, therapeutic phlebotomy; Plt, platelet count; PMF, primary myelofibrosis; PV, polycythemia vera; Rad, radiation; Rem, remission; Rux, ruxolitinib; Th, thalidomide; Tx, treatment; WBC, white blood cell count
Testing performed subsequent to initial diagnosis, but before evidence of CML emerged.
Patient diagnosed with PV prior to 2005 based on laboratory, hematologic, and histopathologic criteria.