Patient characteristics
| Patient no./sex . | Age, y . | Family history . | Hct, % . | Epo . | In vitro assay . | Clonality . | VHL mutations . |
|---|---|---|---|---|---|---|---|
| 1/F | 16 | Yes | 68 | 45 | Hypersensitive* | Polyclonal† | 376G>T/wt |
| 2/M | 10 | Yes | 63 | 271 | Hypersensitive | NI | 376G>T/wt |
| 3/F | 2 | No | 59 | 18 | Hypersensitive* | NI | wt/wt |
| 4/F | 5 | Yes | 60 | 21 | Hypersensitive* | Polyclonal† | wt/wt |
| 5/F | 20 | No | 60 | 30 | Hypersensitive | NI | wt/wt |
| 6/F | 3 | Unknown | 62 | 21 | Hypersensitive | Polyclonal† | 598C>T/598C>T |
| 7/F | 14 | No | 60 | 71 | Normal | Polyclonal† | wt/wt |
| 8/M | 5 | No | 66 | 41 | Normal | NI | 388G>C/598C>T |
| Patient no./sex . | Age, y . | Family history . | Hct, % . | Epo . | In vitro assay . | Clonality . | VHL mutations . |
|---|---|---|---|---|---|---|---|
| 1/F | 16 | Yes | 68 | 45 | Hypersensitive* | Polyclonal† | 376G>T/wt |
| 2/M | 10 | Yes | 63 | 271 | Hypersensitive | NI | 376G>T/wt |
| 3/F | 2 | No | 59 | 18 | Hypersensitive* | NI | wt/wt |
| 4/F | 5 | Yes | 60 | 21 | Hypersensitive* | Polyclonal† | wt/wt |
| 5/F | 20 | No | 60 | 30 | Hypersensitive | NI | wt/wt |
| 6/F | 3 | Unknown | 62 | 21 | Hypersensitive | Polyclonal† | 598C>T/598C>T |
| 7/F | 14 | No | 60 | 71 | Normal | Polyclonal† | wt/wt |
| 8/M | 5 | No | 66 | 41 | Normal | NI | 388G>C/598C>T |
Age is the age of the patient at the time of the study. The in vitro assay determined the in vitro BFU-E sensitivity to Epo. Htc indicates hematocrit; Epo, serum erythropoietin level in mIU/mL; wt, wild-type of the VHL allele; and NI, patient was not informative for clonality assay.
Rare (< 10% of maximum) BFU-E colonies growing in the absence of Epo were found in these patients.
Granulocytes and platelets were tested; both were polyclonal.