Table 1.
Clinical and Pathological Characteristics for Probands by Institution
| UTSW | UTHSCSA | Cleveland | NCI | Total | ||
|---|---|---|---|---|---|---|
| (n = 6) | (n = 4) | (n = 26) | (n = 47) | (n = 83) | ||
| Gender | ||||||
| Male | 4/6 (67%) | 2/4 (50%) | 7/26 (27%) | 29/47 (62%) | 42/83 (51%) | |
| Female | 2/6 (33%) | 2/4 (50%) | 19/26 (73%) | 18/47 (38%) | 41/83 (49%) | |
| Race | ||||||
| Caucasian | 6/6 (100%) | 4/4 (100%) | 20/23 (87%) | 40/47 (85%) | 70/80 (88%) | |
| Asian | 0/6 (0%) | 0/4 (0%) | 1/23 (4%) | 3/47 (6%) | 4/80 (5%) | |
| African American | 0/6 (0%) | 0/4 (0%) | 0/23 (0%) | 2/47 (4%) | 2/80 (3%) | |
| American Indian | 0/6 (0%) | 0/4 (0%) | 1/23 (4%) | 0/47 (0%) | 1/80 (1%) | |
| Other | 0/6 (0%) | 0/4 (0%) | 1/23 (4%) | 2/47 (4%) | 3/80 (4%) | |
| Ethnicity | ||||||
| Hispanic | 1/6 (17%) | 2/4 (50%) | 2/21 (10%) | 1/46 (2%) | 6/77 (8%) | |
| Non-Hispanic | 5/6 (83%) | 2/4 (50%) | 19/21 (90%) | 45/46 (98%) | 71/77 (92%) | |
| Mean Age at Dx (range) | 49.7 (24- 70) |
48.3 (26- 59) |
54.5 (30-79) | 52.2 (33- 75) |
52.5 (24- 79) |
|
| Laterality | ||||||
| Right | 5/6 (83%) | 1/2 (50%) | 9/18 (50%) | 18/47 (38%) | 33/73 (45%) | |
| Left | 1/6 (17%) | 0/2 (0%) | 8/18 (44%) | 15/47 (32%) | 24/73 (33%) | |
| Bilateral | 0/6 (0%) | 1/2 (50%) | 1/18 (6%) | 14/47 (30%) | 16/73 (22%) | |
| Focality | ||||||
| Unifocal | 5/5 (100%) | 2/2 (100%) | 14/17 (82%) | 28/47 (60%) | 49/71 (69%) | |
| Multifocal | 0/5 (0%) | 0/2 (0%) | 3/17 (18%) | 19/47 (40%) | 22/71 (31%) | |
| Histology | ||||||
| Clear Cell | 6/6 (100%) | 3/3 (100%) | 12/17 (71%) | 47/47 (100%) |
68/73 (93%) | |
| Papillary | 0/6 (0%) | 0/3 (0%) | 1/17 (6%) | 0/47 (0%) | 1/73 (1%) | |
| Chromophobe | 0/6 (0%) | 0/3 (0%) | 1/17 (6%) | 0/47 (0%) | 1/73 (1%) | |
| Oncocytic | 0/6 (0%) | 0/3 (0%) | 1/17 (6%) | 0/47 (0%) | 1/73 (1%) | |
| Transitional Cell | 0/6 (0%) | 0/3 (0%) | 1/17 (6%) | 0/47 (0%) | 1/73 (1%) | |
| Tubulopapillary | 0/6 (0%) | 0/3 (0%) | 1/17 (6%) | 0/47 (0%) | 1/73 (1%) | |
| Fuhrman Grade | ||||||
| I | 0/3 (0%) | 0/1 (0%) | 3/15 (20%) | 2/45 (4%) | 5/64 (8%) | |
| II | 1/3 (33%) | 0/1 (0%) | 8/15 (53%) | 35/45 (78%) | 44/64 (69%) | |
| III | 2/3 (67%) | 0/1 (0%) | 2/15 (13%) | 5/45 (11%) | 9/64 (14%) | |
| IV | 0/3 (0%) | 1/1 (100%) | 2/15 (13%) | 3/45 (7%) | 6/64 (9%) | |
| Mean Tumor Size (range) | 5.9 (3.3- 8.0) |
4.4 (1.5- 10.0) |
5.1 (1.2- 14.5) |
5.0 (1.2- 14.5) |
||
| pT | ||||||
| 1 | 3/5 (60%) | 0/1 (0%) | 12/17 (71%) | 31/47 (66%) | 46/70 (66%) | |
| 2 | 0/5 (0%) | 0/1 (0%) | 2/17 (12%) | 9/47 (19%) | 11/70 (16%) | |
| 3 | 2/5 (40%) | 0/1 (0%) | 3/17 (18%) | 6/47 (13%) | 11/70 (16%) | |
| 4 | 0/5 (0%) | 1/1 (100%) | 0/17 (0%) | 1/47 (2%) | 2/70 (3%) | |
| pN | ||||||
| 0 | 1/2 (50%) | 1/1 (100%) | 2/2 (100%) | 9/10 (90%) | 13/15 (87%) | |
| 1 | 1/2 (50%) | 0/1 (0%) | 0/2 (0%) | 1/10 (10%) | 2/15 (13%) | |
| M | ||||||
| 0 | 3/3 (100%) | 2/2 (100%) | 37/47 (79%) | 42/52 (81%) | ||
| 1 | 0/3 (0%) | 0/2 (0%) | 10/47 (21%) | 10/52 (19%) | ||
| Other Tumors (Proband) | ||||||
| Breast | 0/6 (0%) | 0/4 (0%) | 11/26 (42%) | 0/47 (0%) | 11/83 (13%) | |
| Thyroid | 0/6 (0%) | 0/4 (0%) | 6/26 (23%) | 4/47 (9%) | 10/83 (12%) | |
| Prostate | 0/6 (0%) | 0/4 (0%) | 0/26 (0%) | 3/47 (6%) | 3/83 (4%) | |
| Uterus | 0/6 (0%) | 0/4 (0%) | 2/26 (8%) | 0/47 (0%) | 2/83 (2%) | |
| Thymoma | 0/6 (0%) | 0/4 (0%) | 1/26 (4%) | 1/47 (2%) | 2/83 (2%) | |
| Pancreas | 1/6 (17%) | 0/4 (0%) | 0/26 (0%) | 0/47 (0%) | 1/83 (1%) | |
| Bladder | 1/6 (17%) | 0/4 (0%) | 0/26 (0%) | 0/47 (0%) | 1/83 (1%) | |
| Esophagus | 1/6 (17%) | 0/4 (0%) | 0/26 (0%) | 0/47 (0%) | 1/83 (1%) | |
| Ovary | 0/6 (0%) | 0/4 (0%) | 1/26 (4%) | 0/47 (0%) | 1/83 (1%) | |
| Cervix | 0/6 (0%) | 0/4 (0%) | 1/26 (4%) | 0/47 (0%) | 1/83 (1%) | |
| Lung | 0/6 (0%) | 0/4 (0%) | 0/26 (0%) | 1/47 (2%) | 1/83 (1%) | |
| Pheochromocytoma | 0/6 (0%) | 2/4 (50%) | 0/26 (0%) | 0/47 (0%) | 2/83 (2%) | |
| Melanoma | 0/6 (0%) | 0/4 (0%) | 1/26 (4%) | 1/47 (2%) | 2/83 (2%) | |
| Paraganglioma | 0/6 (0%) | 1/4 (25%) | 0/26 (0%) | 0/47 (0%) | 1/83 (1%) | |
| Carcinoid | 0/6 (0%) | 0/4 (0%) | 0/26 (0%) | 1/47 (2%) | 1/83 (1%) | |
| Familial RCC | ||||||
| 1st Degree Relatives | ||||||
| 0 | 4/6 (67%) | 2/4 (50%) | 13/26 (50%) | 10/47 (21%) | 29/83 (35%) | |
| 1 | 0/6 (0%) | 2/4 (50%) | 13/26 (50%) | 28/47 (60%) | 43/83 (52%) | |
| 2 | 2/6 (33%) | 0/4 (0%) | 0/26 (0%) | 6/47 (13%) | 8/83 (10%) | |
| 3 | 0/6 (0%) | 0/4 (0%) | 0/26 (0%) | 3/47 (6%) | 3/83 (4%) | |
| 2nd Degree Relatives | ||||||
| 0 | 5/6 (83%) | 4/4 (100%) | 14/26 (54%) | 29/47 (62%) | 52/83 (63%) | |
| 1 | 1/6 (17%) | 0/4 (0%) | 12/26 (46%) | 12/47 (26%) | 25/83 (30%) | |
| 2 | 0/6 (0%) | 0/4 (0%) | 0/26 (0%) | 6/47 (13%) | 6/83 (7%) | |
| Germline Mutation Testing * | ||||||
| VHL | 6/6 (100%) | 4/4 (100%) | 2/26 (8%) | 22/47 (47%) | 34/83 (41%) | |
| SDHB | 0/6 (0%) | 4/4 (100%) | 12/26 (46%) | 19/47 (40%) | 35/83 (42%) | |
| SDHC | 0/6 (0%) | 0/4 (0%) | 11/26 (42%) | 19/47 (40%) | 30/83 (36%) | |
| SDHD | 0/6 (0%) | 0/4 (0%) | 11/26 (42%) | 19/47 (40%) | 30/83 (36%) | |
| PTEN | 0/6 (0%) | 0/4 (0%) | 25/26 (96%) | 1/47 (2%) | 26/83 (31%) | |
| BRCA1/2 | 0/6 (0%) | 0/4 (0%) | 5/26 (19%) | 0/47 (0%) | 5/83 (6%) | |
| MET | 0/6 (0%) | 0/4 (0%) | 1/26 (4%) | 3/47 (6%) | 4/83 (5%) | |
| FLCN | 0/6 (0%) | 0/4 (0%) | 0/26 (0%) | 7/47 (15%) | 7/83 (8%) | |
| FH | 0/6 (0%) | 0/4 (0%) | 0/26 (0%) | 4/47 (9%) | 4/83 (5%) | |
| TSC1/2 | 0/6 (0%) | 0/4 (0%) | 0/26 (0%) | 3/47 (6%) | 3/83 (4%) | |
Mean size (cm), grade and stage were determined on the largest tumor per patient. Dx, diagnosis; pT and pN, pathologic tumor and node stage according to American Joint Committee on Cancer, 2010 edition; M, clinical metastases.
*
Germline mutation testing refers to the number of individuals tested for mutation in each indicated gene. All genetic tests were negative.