Table 1.

Clinical and pathologic characteristics for probands by institution

UTSWUTHSCSAClevelandNCITotal
(n = 6)(n = 4)(n = 26)(n = 47)(n = 83)
Gender
 Male4/6 (67%)2/4 (50%)7/26 (27%)29/47 (62%)42/83 (51%)
 Female2/6 (33%)2/4 (50%)19/26 (73%)18/47 (38%)41/83 (49%)
Race
 Caucasian6/6 (100%)4/4 (100%)20/23 (87%)40/47 (85%)70/80 (88%)
 Asian0/6 (0%)0/4 (0%)1/23 (4%)3/47 (6%)4/80 (5%)
 African-American0/6 (0%)0/4 (0%)0/23 (0%)2/47 (4%)2/80 (3%)
 American-Indian0/6 (0%)0/4 (0%)1/23 (4%)0/47 (0%)1/80 (1%)
 Other0/6 (0%)0/4 (0%)1/23 (4%)2/47 (4%)3/80 (4%)
Ethnicity
 Hispanic1/6 (17%)2/4 (50%)2/21 (10%)1/46 (2%)6/77 (8%)
 Non-Hispanic5/6 (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
 Right5/6 (83%)1/2 (50%)9/18 (50%)18/47 (38%)33/73 (45%)
 Left1/6 (17%)0/2 (0%)8/18 (44%)15/47 (32%)24/73 (33%)
 Bilateral0/6 (0%)1/2 (50%)1/18 (6%)14/47 (30%)16/73 (22%)
Focality
 Unifocal5/5 (100%)2/2 (100%)14/17 (82%)28/47 (60%)49/71 (69%)
 Multifocal0/5 (0%)0/2 (0%)3/17 (18%)19/47 (40%)22/71 (31%)
Histology
 Clear cell6/6 (100%)3/3 (100%)12/17 (71%)47/47 (100%)68/73 (93%)
 Papillary0/6 (0%)0/3 (0%)1/17 (6%)0/47 (0%)1/73 (1%)
 Chromophobe0/6 (0%)0/3 (0%)1/17 (6%)0/47 (0%)1/73 (1%)
 Oncocytic0/6 (0%)0/3 (0%)1/17 (6%)0/47 (0%)1/73 (1%)
 Transitional cell0/6 (0%)0/3 (0%)1/17 (6%)0/47 (0%)1/73 (1%)
 Tubulopapillary0/6 (0%)0/3 (0%)1/17 (6%)0/47 (0%)1/73 (1%)
Fuhrman grade
 10/3 (0%)0/1 (0%)3/15 (20%)2/45 (4%)5/64 (8%)
 21/3 (33%)0/1 (0%)8/15 (53%)35/45 (78%)44/64 (69%)
 32/3 (67%)0/1 (0%)2/15 (13%)5/45 (11%)9/64 (14%)
 40/3 (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
 13/5 (60%)0/1 (0%)12/17 (71%)31/47 (66%)46/70 (66%)
 20/5 (0%)0/1 (0%)2/17 (12%)9/47 (19%)11/70 (16%)
 32/5 (40%)0/1 (0%)3/17 (18%)6/47 (13%)11/70 (16%)
 40/5 (0%)1/1 (100%)0/17 (0%)1/47 (2%)2/70 (3%)
pN
 01/2 (50%)1/1 (100%)2/2 (100%)9/10 (90%)13/15 (87%)
 11/2 (50%)0/1 (0%)0/2 (0%)1/10 (10%)2/15 (13%)
M
 03/3 (100%)2/2 (100%)37/47 (79%)42/52 (81%)
 10/3 (0%)0/2 (0%)10/47 (21%)10/52 (19%)
Other tumors (proband)
 Breast0/6 (0%)0/4 (0%)11/26 (42%)0/47 (0%)11/83 (13%)
 Thyroid0/6 (0%)0/4 (0%)6/26 (23%)4/47 (9%)10/83 (12%)
 Prostate0/6 (0%)0/4 (0%)0/26 (0%)3/47 (6%)3/83 (4%)
 Uterus0/6 (0%)0/4 (0%)2/26 (8%)0/47 (0%)2/83 (2%)
 Thymoma0/6 (0%)0/4 (0%)1/26 (4%)1/47 (2%)2/83 (2%)
 Pancreas1/6 (17%)0/4 (0%)0/26 (0%)0/47 (0%)1/83 (1%)
 Bladder1/6 (17%)0/4 (0%)0/26 (0%)0/47 (0%)1/83 (1%)
 Esophagus1/6 (17%)0/4 (0%)0/26 (0%)0/47 (0%)1/83 (1%)
 Ovary0/6 (0%)0/4 (0%)1/26 (4%)0/47 (0%)1/83 (1%)
 Cervix0/6 (0%)0/4 (0%)1/26 (4%)0/47 (0%)1/83 (1%)
 Lung0/6 (0%)0/4 (0%)0/26 (0%)1/47 (2%)1/83 (1%)
 Pheochromocytoma0/6 (0%)2/4 (50%)0/26 (0%)0/47 (0%)2/83 (2%)
 Melanoma0/6 (0%)0/4 (0%)1/26 (4%)1/47 (2%)2/83 (2%)
 Paraganglioma0/6 (0%)1/4 (25%)0/26 (0%)0/47 (0%)1/83 (1%)
 Carcinoid0/6 (0%)0/4 (0%)0/26 (0%)1/47 (2%)1/83 (1%)
Familial RCC
 First-degree relatives
  04/6 (67%)2/4 (50%)13/26 (50%)10/47 (21%)29/83 (35%)
  10/6 (0%)2/4 (50%)13/26 (50%)28/47 (60%)43/83 (52%)
  22/6 (33%)0/4 (0%)0/26 (0%)6/47 (13%)8/83 (10%)
  30/6 (0%)0/4 (0%)0/26 (0%)3/47 (6%)3/83 (4%)
 Second-degree relatives
  05/6 (83%)4/4 (100%)14/26 (54%)29/47 (62%)52/83 (63%)
  11/6 (17%)0/4 (0%)12/26 (46%)12/47 (26%)25/83 (30%)
  20/6 (0%)0/4 (0%)0/26 (0%)6/47 (13%)6/83 (7%)
Germline mutation testinga
VHL6/6 (100%)4/4 (100%)2/26 (8%)22/47 (47%)34/83 (41%)
SDHB0/6 (0%)4/4 (100%)12/26 (46%)19/47 (40%)35/83 (42%)
SDHC0/6 (0%)0/4 (0%)11/26 (42%)19/47 (40%)30/83 (36%)
SDHD0/6 (0%)0/4 (0%)11/26 (42%)19/47 (40%)30/83 (36%)
PTEN0/6 (0%)0/4 (0%)25/26 (96%)1/47 (2%)26/83 (31%)
BRCA1/20/6 (0%)0/4 (0%)5/26 (19%)0/47 (0%)5/83 (6%)
MET0/6 (0%)0/4 (0%)1/26 (4%)3/47 (6%)4/83 (5%)
FLCN0/6 (0%)0/4 (0%)0/26 (0%)7/47 (15%)7/83 (8%)
FH0/6 (0%)0/4 (0%)0/26 (0%)4/47 (9%)4/83 (5%)
TSC1/20/6 (0%)0/4 (0%)0/26 (0%)3/47 (6%)3/83 (4%)

NOTE: Mean size (cm), grade, and stage were determined on the largest tumor per patient.

Abbreviations: Dx, diagnosis; pT and pN, pathologic tumor and node stage according to American Joint Committee on Cancer, 2010 edition; M, clinical metastases.

  • aGermline mutation testing refers to the number of individuals tested for mutation in each indicated gene. All genetic tests were negative.