Table 2.
Intragenic-Mutation and Promoter-Methylation Analyses of TSC Lesions
|
Analysis ofb |
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|
TSC1/TSC2 |
TSC2 |
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| Patient | TumorTypea | SSCP | Long-RangePCR | SouthernBlot | PromoterMethylation |
| 1 | UF | NSo/… | …/… | … | … |
| 2 | AML | NSo/NS | …/… | … | U |
| 3 | SEGA | NSo/NS | N/N | … | U |
| 4 | SEGA | …/… | …/… | … | … |
| 5 | Rhabdo | NS/NSo | …/… | … | U |
| 6 | Rhabdo | NS/NSo | …/… | … | U |
| 7 | AML | NS/NSo | …/… | … | U |
| 8 | LAM 1 | NS/NSo | N/N | N | U |
| LAM 2 | NS/NSo | N/N | N | U | |
| LAM 3 | NS/NSo | N/N | N | U | |
| 9 | AML 1 | NS/E33c | N/N | N | U |
| AML 2 | NS/NSo | N/N | N | U | |
| Tuber 1 | NS/NSo | N/N | N | U | |
| Tuber 2 | NS/NSo | N/N | N | U | |
| Tuber 3 | NS/NSo | N/N | N | U | |
| Tuber 4 | NS/NSo | N/N | … | U | |
| Tuber 5 | NS/NSo | N/N | … | U | |
| SEGA 1 | NS/NSo | N/N | N | U | |
| SEGA 2 | NS/NSo | N/N | N | U | |
| UF | NS/NSo | N/N | N | U | |
| GP | NS/NSo | N/N | N | U | |
| 10 | AML 1 | NS/NS | N/N | N | U |
| AML 2 | NS/NS | N/N | N | U | |
| AML 3 | NS/NS | N/N | N | U | |
a
For abbreviations, see table 1.
b
NS = no shift; NSo = no shift other than germline mutation; N = normal; U = unmethylated; an ellipsis (…) denotes that the sample was not tested, owing to inadequate sample quantity.
c
Complex 14-bp deletion of wild-type allele (see text).