J Med Genet. Published Online First: 5 May 2009. doi:10.1136/jmg.2008.065342
Letters to JMG |
TSC1 and TSC2 Mutations in Patients with Lymphangioleiomyomatosis and Tuberous Sclerosis Complex
1 Department of Neurology, Massachusetts General Hospital, Boston, MA, United States
2 Department of Radiology, Massachusetts General Hospital, Boston, MA, United States
3 Pulmonary and Critical Care Unit, Massachusetts General Hospital, Boston, MA, United States
* To whom correspondence should be addressed. E-mail: ethiele{at}partners.org.
Accepted 23 February 2009
Abstract
Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC). 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). 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). These findings suggest a higher rate of LAM in TSC1 than previously recognized, as well as a fundamental difference in CT presentation between TSC1 and TSC2.
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