Table 1:
Review of the literature and TriNetX results on the prevalence of VHL-associated conditions.
| Authors | Epididymal Cystadenoma | Broad Ligament Cystadenoma | Renal Cell Carcinoma | Pheochromocytoma | Endolymphatic Sac Tumor | CNS Hemangioblastoma | Retinal Hemangioma | Pancreatic Neuroendocrine Tumor | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Varshney et al. (2017) | 25-60% | Rare | 30% | 10–20% | 6–15% | 60–80% | 60% | 8% malignant | [1] |
| Ben-Skowronek & Kozaczuk (2015) | 40–80% | 2.5% malignant | [3] | ||||||
| Aronow et al.(2019) | 25-65% | Rare | 45% | 20% | 10–15% | 60–80% | 45–60% | 8–20% overall | [4] |
| Lonser, Glenn et al.(2003) | 25-60% | Rare | 25–45% | 10–20% | 11% | 60–80% | 60% | 8–17% overall | [6] |
| Maher et al.(2011) | 60% | Rare | 70% | 11% | 60–80% | 5–10% overall | [7] | ||
| Megerian et al.(2002) | 11–13% | 35–70% overalla | [8] | ||||||
| Gioacchini et al.(2022) | 10% | [9] | |||||||
| Wind & Lonser (2011) | 25–45% | 10–20% | 10–15% | 60–80% | [10] | ||||
| Chew (2005) | 50% | [11] | |||||||
| Maher & Kaelin (1997) | 24–28% | 7–19% | 10% | 69–72% | 57–59% | [12] | |||
| Charlesworth et al. (2012) | 15% overall (12.8% malignant) | [13] | |||||||
| Lonser, Weil et al.(2003) | 21–72% | [14] | |||||||
| TriNetX | 6.0% | 3.4% | 28.6% | 20.4% | 0.8%b | 13.9% | 4.4% | 2.8% overall (70.6% malignant) | N/A |
a
This includes pancreatic cysts and cystadenomas.
b
Denotes ≤10 instances in TriNetX.