Table 1.
Clinical and phenotypical features of the 47 HCL patients
| HCL Case | BRAF V600E | Sex | Age at first diagnosis | WBC count at first diagnosis (/mm3) | Splenomegaly at first diagnosis | Positivity of leukemic B cellsd | Previous therapy | |||
|---|---|---|---|---|---|---|---|---|---|---|
| ANXA1 (IHC) | CD25 | CD11c | CD103 | |||||||
| 1a | yes | M | 62 | 2,470 | no | yes | yes | n.a. | yes | IFNh |
| 2 | yes | M | 47 | 9,400 | yes | n.a. | yes | yes | yes | none |
| 3 | yes | F | 41 | 3,760 | yes | yes | n.a. | yes | yes | RTXi |
| 4 | yes | M | 62 | 6,710 | yes | yes | yes | yes | yes | none |
| 5 | yes | M | 56 | 6,240 | yes | n.a. | yes | yes | yes | none |
| 6 | yes | F | 61 | 8,819 | yes | n.a. | yes | yes | yes | none |
| 7 | yes | M | 39 | 2,980 | yes | yes | n.a. | n.a. | n.a. | splenectomy, IFN, DCFj, 2-CDAk, RTX, 2-CDA |
| 8b | yes | M | 46 | 2,700 | yes | n.a. | yes | yes | yes | none |
| 9 | yes | M | 60 | 5,470 | yes | n.a. | yes | yes | yes | DCF, 2-CDA, splenectomy |
| 10 | yes | M | 33 | 4,120 | yes | n.a. | yes | yes | yes | none |
| 11a | yesc | M | 46 | 11,390 | yes | n.a. | yes | yes | yes | DCF, 2-CDA, splenectomy, IFN, FCRl, CHOPm, 2-CDA |
| 12 | yes | F | 68 | 5,300 | no | yes | n.a. | n.a. | n.a. | none |
| 13 | yes | M | 70 | 9,350 | no | n.a. | yes | yes | yes | none |
| 14 | yes | M | 48 | 2,100 | no | yes | yes | yes | n.a. | none |
| 15 | yes | M | 75 | 3,720 | no | yes | n.a. | yes | n.a. | none |
| 16 | yesc | M | 39 | 4,800 | yes | yes | yes | yes | yes | DCF, 2-CDA, RTX, splenectomy |
| 17a | yes | M | 61 | 2,500 | yes | yes | n.a. | n.a. | n.a. | none |
| 18a | yes | M | 63 | 1,300 | yes | yes | n.a. | n.a. | n.a. | none |
| 19 | yesc | F | 60 | 7,800 | yes | n.a. | yes | yes | yes | none |
| 20 | yes | F | 47 | 8,010 | yes | n.a. | yes | yes | yes | none |
| 21 | yes | M | 55 | 2,330 | yes | n.a. | yes | yes | yes | none |
| 22 | yes | M | 63 | 3,680 | yes | n.a. | yes | yes | yes | none |
| 23 | yes | M | 33 | 9,900 | no | yes | yes | yes | yes | none |
| 24 | yes | F | 68 | 2,900 | yes | yes | n.a. | yes | pose | none |
| 25 | yes | M | 59 | 4,880 | yes | yes | n.a. | yes | posf | none |
| 26a | yes | F | 79 | 2,900 | yes | yes | n.a. | n.a. | n.a. | none |
| 27a | yes | M | 57 | 1,300 | yes | yes | n.a. | n.a. | n.a. | none |
| 28a | yes | M | 72 | 2,000 | yes | yes | n.a. | n.a. | n.a. | none |
| 29a | yes | M | 74 | 9,300 | yes | yes | n.a. | n.a. | n.a. | splenectomy, IFN |
| 30a | yes | M | 71 | 7,400 | yes | yes | n.a. | n.a. | n.a. | splenectomy, IFN |
| 31a | yes | M | 52 | 1,300 | yes | yes | n.a. | n.a. | n.a. | none |
| 32 | yes | M | 66 | 51,000 | n.a. | n.a. | yes | yes | yes | none |
| 33 | yes | M | 52 | n.a. | n.a. | n.a. | yes | yes | yes | none |
| 34 | yes | M | 80 | 24,600 | n.a. | n.a. | yes | yes | yes | 2-CDA |
| 35 | yes | F | 77 | 34,700 | yes | n.a. | yes | yes | yes | IFN |
| 36 | yes | M | 49 | 12,100 | n.a. | n.a. | yes | yes | yes | none |
| 37 | yes | M | 51 | 37,900 | n.a. | n.a. | yes | yes | yes | none |
| 38 | yes | M | 35 | 23,500 | yes | n.a. | yes | yes | yesg | none |
| 39 | yes | M | 45 | 7,800 | n.a. | n.a. | yes | yes | yes | none |
| 40 | yes | F | 49 | 18,900 | n.a. | n.a. | yes | yes | yes | none |
| 41 | yes | M | 44 | 2,610 | yes | n.a. | yes | yes | yes | IFN, DCF+IFN, 2-CDA, splenectomy |
| 42 | yes | M | 56 | 7500 | yes | n.a. | yes | yes | yes | none |
| 43 | yes | M | 48 | 14110 | yes | n.a. | yes | yes | yes | none |
| 44 | yes | M | 41 | 4170 | yes | yes | n.a. | n.a. | n.a. | none |
| 45 | yes | F | 41 | 3760 | no | yes | n.a. | n.a. | n.a. | RTX |
| 46 | yes | M | 56 | 36070 | yes | n.a. | yes | yes | yes | none |
| 47 | yesc | M | 67 | 39000 | yes | n.a. | yes | yes | yes | CTXn |
These cases have also been previously studied by genome-wide expression profiling analysis (ref. 5);
This case corresponds to the index patient subjected to whole exome sequencing.
Present in a homozygous/hemizygous fashion;
ANXA1 was assessed at immunohistochemistry (IHC), whilst CD25, CD11c and CD103 were assessed at flow cytometry (n.a. denotes not available).
In 19% of leukemic cells;
In 22% of leukemic cells;
In 39% of leukemic cells;
Interferon;
Rituximab
Deoxycoformycin;
2-Chloro-deoxyadenosine;
Fludarabine, Cyclophosphamide, Rituximab;
Cyclophosphamide, Adriamycin, Vincristine, Prednisone;
Cyclophosphamide