Table 3.
TSC1 and TSC2 Loss of Heterozygosity in Cancer and LAM
| Diseases |
TSC1 Loss of Heterozygosity |
TSC2 Loss of Heterozygosity |
|||
|---|---|---|---|---|---|
| Patient Loss of Heterozygosity Number [n (%)] | Markers | Patient Loss of Heterozygosity [n (%)] | Markers | ||
| Lung adenocarcinoma | 7/9 (77.8) | D9S149, D9S150, DBH (18) |
5/6 (83.3) | D16S291, D16S525, D16S300 (18) | |
| Glial and glioneuronal tumors | 9/89 (10.1) | PM4, PM2, PM1, exon 14, intron 21, exon 22 of TSC1, PM5 (19) |
6/98 (6.1) | Kg8, exon 40 of TSC2, IVS8, LP7, LP10 (19) | |
| Renal cell carcinoma | 7/38 (18.4) | PM4, PM2, PM1, exon 14, intron 21, exon 22 of TSC1, PM5 (20) |
1 /42(2.4) | LP1, IVS8, LP10, exon 40 of TSC2, Kg8 (20) | |
| Oral squamous cell carcinoma | 17/46 (37.0) | D9S179, D9S1830 and D9S915 (21) |
18/46 (39.1) | D16S3024, D16S3395, D16S475 (21) | |
| Bladder cancer | 40/70 (57.1) | 24 markers between D9S61 and D9S66 (22) |
|||
| Ovarian cancer | 26/33 (78.8) | 11 markers on 9p, 12 markers on 9q (24) |
|||
| Angiomyolipomas | |
3/29 (10.3) | D16S283, D16S291, Kg8, D16S525 (23) | ||
| Papillary carcinomas | |
2/6 (33.3) | D16S663, D16S665 (25) | ||
| Cardiac rhabdomyomas | |
2/6 (33.3) | D16S283, D16S291, Kg8, D16S525 (26) | ||
| S-LAM | 47/52 (90.4) | D16S521, D16S3024, D16S3395, Kg8, D16S291 (7) | |||
Definition of abbreviations: LAM = lymphangioleiomyomatosis; S-LAM = sporadic LAM.