TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.
BACKGROUND
Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC).


OBJECTIVE
The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1 disease-causing mutation, TSC2 disease-causing mutation, or no mutation identified (NMI).


RESULTS
We conducted a retrospective review of the chest computed tomography (CT) of 45 female and 20 male patients with TSC and found cysts consistent with LAM in 22 (49%) women and two (10%) men. In the female population, changes consistent with LAM were observed in six of 15 (40%) patients with TSC1, 11 of 23 (48%) with TSC2, and five of seven (71%) with NMI. While the predominant size of cysts did not differ across these three groups, TSC2 women with LAM had a significantly greater number of cysts than did TSC1 patients (p = 0.010).


CONCLUSIONS
These findings suggest a higher rate of LAM in TSC1 than previously recognised, as well as a fundamental difference in CT presentation between TSC1 and TSC2.
Muzykewicz
D A
DA
Sharma
A
A
Muse
V
V
Numis
A L
AL
Rajagopal
J
J
Thiele
E A
EA
D000328:Adult; D016009:Chi-Square Distribution; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D018192:Lymphangioleiomyomatosis / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D009154:Mutation; D013902:Radiography, Thoracic; D012189:Retrospective Studies; D018709:Statistics, Nonparametric; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins