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TSC1 and TSC2 Mutations in Patients with Lymphangioleiomyomatosis and Tuberous Sclerosis Complex
  1. David A Muzykewicz (david.muzykewicz{at}post.harvard.edu)
  1. Department of Neurology, Massachusetts General Hospital, Boston, MA, United States
    1. Amita Sharma (asharma2{at}partners.org)
    1. Department of Radiology, Massachusetts General Hospital, Boston, MA, United States
      1. Victorine Muse (vmuse{at}partners.org)
      1. Department of Radiology, Massachusetts General Hospital, Boston, MA, United States
        1. Adam L Numis (anumis{at}partners.org)
        1. Department of Neurology, Massachusetts General Hospital, Boston, MA, United States
          1. Jayaraj Rajagopal (jrajagopal{at}partners.org)
          1. Pulmonary and Critical Care Unit, Massachusetts General Hospital, Boston, MA, United States
            1. Elizabeth A Thiele (ethiele{at}partners.org)
            1. Department of Neurology, Massachusetts General Hospital, Boston, MA, United States

              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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