Table 2.
Tissues in which TSC2 mutations were identified
| Patient | Mutation | Angiomyolipoma | Normal kidney | Pulmonary LAM | Normal lung | Lymphoblastoid cells |
|---|---|---|---|---|---|---|
| 487 | G1096T | + | − | + | − | NA |
| 490 | del 2061-73 | + | − | + | − | − |
| 491 | del 529-32 | + | NA | + | NA* | − |
| 621 | G1832A | + | − | NA | NA | − |
| 651 | G1832A | + | − | + | − | − |
+, the specific mutation listed was present in this tissue; −, the mutation was not present; NA, the tissue was not available for analysis.
*
No morphologically normal lung was present in the specimen from patient 491. The variant band was present in microdissected smooth muscle actin-negative cells, but at a greatly reduced intensity compared with the LAM cells.