Table 1.
PTEN mutations in different tumor histotypes.
| Site | Tumor Type | Range | Average | n Sample | n TCGA Studies | Comments |
|---|---|---|---|---|---|---|
| Kidney | CCRCC | 3–5% | 4% | 1548 patients/1549 samples | 3 | Nonsense, missense, FS ins, FS del, splice, IF del |
| Non-CCRCC | 2.8–11% | 5% | 772 patients/773 samples | 5 | Nonsense, missense, FS del, IF del | |
| Prostate | Adenocarcinoma | 17–21% | 20% | 1325 patients/1326 samples | 3 | Nonsense, missense, FS ins, FS del, splice, IF del, fusion |
| Pancreas | Adenocarcinoma | 1.1–1.6% | 1.4% | 369 patients/370 samples | 2 | NA |
| Colorectal | Adenocarcinoma | 4–8% | 6% | 1506 patients/1510 samples | 3 | Nonsense, missense, FS ins, FS del, splice |
| Breast | Invasive Carcinoma | 4–11% | 7% | 3824patients/3832 samples | 4 | Nonsense, missense, FS ins, FS del, splice, IF del |
| Ovary | Serous Cystadenocarcinoma | 6–7% | 7% | 1742 patients/1754 samples | 3 | Missense, FS del, splice |
| Uterus | EC | 21% | 21% | 114 | 2 | Nonsense, missense, FS ins, FS del, splice |
| CNS–Brain | Diffuse glioma | 4–15% | 10% | 2152 patients/2168 samples | 3 | Nonsense, missense, FS ins, splice, nonstart, fusion |
| GBM | 19–32% | 22% | 1967 patients/1987 samples | 4 | Nonsense, missense, FS ins, FS del, splice, IF del | |
| Skin | Melanoma | 14–16% | 15% | 913 patients/927 samples | 2 | Nonsense, missense, FS ins, FS del, splice, IF del, fusion |
| Myeloid | AML | 1% | 1% | 200 patients/200 samples | 3 | NA |
| Thyroid | Carcinoma | 1.2% | 1.2% | 1514 patients/1523 samples | 3 | Nonsense, missense, FS del, fusion |
PTEN, Phosphatase and tensin homolog deleted on chromosome 10; TCGA, the cancer genome atlas; NA, not available; FS ins, frameshift insertion; FS del, frameshift deletion; IF del, in-frame deletion; CCRCC, clear cell renal cell carcinoma; EC, endometrial carcinoma; GBM, glioblastoma; AML, acute myeloid leukemia.