Table 1.
Demographic and clinical data for PTEN-mutation positive patients with RCC
| Patien t ID |
Genotyp e |
Se x |
Age at RCC dx |
Laterali ty |
Tumor Size |
Presentation Leading to RCC Diagnosis |
Other CS Features |
|---|---|---|---|---|---|---|---|
| 105- 001 |
c.491del A |
M | 11 | Left | 4 cm | Fever, left flank pain, nausea; normal U/A, culture, and IVP |
L, T, ThyCA |
| 1731- 001 |
c.150del T |
M | 53 | Left | 1 cm | Incidentally identified during lung scan performed due to breathing difficulties |
AK, CP, GA, GP, L, M, MNG, OP, SF,T |
| 3147- 001 |
c.1003C> T (Arg335T er) |
F | 44 | Right | 10 cm | Right lower abdominal and flank pain |
M, ThyCA |
| 1495- 001 |
c.1003C> T (Arg335T er) |
F | 45 | Left | 6.5 cm | Microscopic hematuria, left flank pain |
GP, MNG, OP, UF |
| 1334- 001 |
c.210- 1G>A |
F | 53 | Left | 6.8 cm | Incidentally identified during PET scan performed due to breast cancer history |
DCIS, FBD, GA, GP, M, MNG |
| 857- 002 |
c.388C> T (Arg130T er) |
F | 64 | Right | 3.1 cm | Incidentally identified during MRI performed during endometrial cancer workup |
AK, CP, GM, GP, GT, M, MNG, OP, UtCA |
| 6092- 001 |
c. 164+1 G>T |
M | 49 | Right | 2 cm | Recurrent UTI, right flank pain |
GP, L, M, MNG |
| 4635- 001 |
c.70G>C (Asp24Hi s) |
F | 58 | Right | 1.3 cm | Incidentally identified during CT performed due to history of breast and uterine cancers |
BrCA, M, MNG, OP, SF, UtCA |
| 5266- 001 |
c.388C> T (Arg130T er) |
F | 32 | Bilatera I |
4 cm (R), 10 cm (L) |
Left flank pain | FBD, GP, MNG, UtCA |
AK = Acral keratoses; BrCA = Breast cancer; CP = Cutaneous papillomatosis; DCIS = Ductal carcinoma in situ; FBD = Fibrocystic breast disease; GA = Glycogenic acanthosis; GM = Genitourinary malformation; GP = GI Polyposis; GT = Genitourinary tumor; L= Lipoma; M = Macrocephaly; MNG = Multinodular goiter; OP = Oral papillomatosis; SF = Sclerotic fibromas; T = Trichilemmomas; ThyCA = Thyroid cancer; UF = Uterine fibroids; UtCA = Uterine cancer