Table 1.
Summary of PRF defects and associated disease in family members. Analysis of PRF included PRF1 genotype (assessed by Sanger sequencing) and PRF expression in NK cells (assessed by intracellular FACS). The penetrance of PRF mutations was found to be over 50% with five out of nine carriers affected by disease, including solid tumors.
| Patient | Relationship to index case | Age at testing | PRF1 genotype | PRF expression in NK cells | Disease (age at presentation) |
|---|---|---|---|---|---|
| I-1 | Father | 76 y | A91V/R410W | 58% | Renal carcinoma (54 y) Prostate carcinoma (71 y) Gastric carcinoma (77 y) AML (81 y) |
| I-2 | Mother | 76 y | A91V/WT | 86% | Disease free |
| I-3 | Uncle | 70 y | R410W/WT | 70% | CMML (70 y) |
| II-1 | Index case | 43 y | A91V/R410W | 65% | FHLH (43 y) |
| II-2 | Brother | Not tested | Not tested | Not tested | Glioma (40 y) |
| II-3 | Brother | 49 y | A91V/A91V | 72% | Disease free |
| II-4 | Bother | 40 y | R410W/WT | 88% | Disease free |
| II-5 | Sister | 35 y | A91V/R410W | 47% | Disease free |
| II-6 | Brother-in-law | 49 y | WT/WT | 89% | Disease free |
| III-1 | Niece | 8 y | A91V/WT | 65% | ALL (8 y) |