Table 3.
Clinical details of human PCC cases with detected CACNA1H variants.
| Panel number | Age (years) | Sex (M/F) | Diagnosis | Size (mm) | Malignant behavior | Follow-up | Other tumors | Other diseases and features | Wild-type PPGL genes | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Time | Outcome | Constitutional | Tumor | ||||||||
| Karolinska cohort | |||||||||||
| 6 | 44 | F | PCC | 20 | No | 16.7 y | Alive | Breast cancer | Anosmia, toxic MNG | By WESa | By WESa |
| 19 | 37 | M | PCC | 100 | No | 27 y | Alive | Seminoma neurofibromas | Vertigo | By WESa | By WESa |
| E2 | 51 | M | PCC | 45 | No | 0 y | Dead | – | –– | By WES-panelb |
– |
| TCGA database | |||||||||||
| TCGA-WB-A81D | 82 | F | PCC | 75 | No | 4 y | Alive |
– |
– |
By WESc | By WESc |
| TCGA-QR-A70U | 46 | F | PCC | 57 | No | 4 y | Alive |
– |
– |
By WESc | By WESc |
| TCGA-S7-A7WP | 25 | F | PCC | 50 | No | 2 y | Alive |
– |
– |
By WESc | By WESc |
Age, age at diagnosis; F, female; M, male; MNG, multinodular goiter; −, not reported; PCC, pheochromocytoma;WES, whole-exome sequencing; y, years.
aJuhlin et al. 2015; bGene panel detailed in the Supplementary Table 3; cFishbein et al. 2017.
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