Table 1.
Identification of TSC1 and TSC2 Mutations in Tissues of Patients with LAM/AML
| Patient ID | Age (yr) | Rx | Tissue | Genomic Location (hg19) | Nucleotide Change | Protein Change | Mutation Type | Mutant Allele Frequency |
|---|---|---|---|---|---|---|---|---|
| LAM1 | 72 | No | Lung | chr16:2112983 | TSC2; c.1372C>T | p.(Arg458*) | Nonsense | 2.0–4.0% |
| LAM2 | 65 | Yes | Lung | chr16:2136360 | TSC2; c.4829G>A | p.(Trp1610*) | Nonsense | 3.0% |
| LAM3 | 50 | No | Lung | chr16:2122880 | TSC2; c.2251C>T | p.(Arg751*) | Nonsense | 5.7% |
| LAM4† | 52 | No | Lung | chr16:2103385 | TSC2; c.268C>T | p.(Gln90*) | Nonsense | 6.1% |
| chr16:2129160 | TSC2; c.3094C>T | p.(Arg1032*) | Nonsense | 4.0% | ||||
| LAM5† | 37 | Yes | Lung | chr16:2135028 | TSC2; c.4569 + 1G>T | N/A | Splice donor | 4.0% |
| chr16:2114333 | TSC2; c.1504delC | p.(His502Thrfs*33) | Frameshift | 4.5% | ||||
| Uterus | chr16:2135028 | TSC2; c.4569 + 1G>T | N/A | Splice donor | 1.7% | |||
| chr16:2114333 | TSC2; c.1504delC | p.(His502Thrfs*33) | Frameshift | 2.0% | ||||
| AML | 47 | No | Kidney | chr9:135781167 | TSC1; c1798C>T | p.(Gln600*) | Nonsense | 79.0% |
Definition of abbreviations: AML = angiomyolipoma; Arg = arginine; chr = chromosome; del = deletion; Gln = glutamine; His = histidine; LAM = lymphangioleiomyomatosis; N/A = no protein changes; Rx = sirolimus treatment; Thr = threonine; Trp = tryptophan.
†
Two-hit gene mutations were identified.