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Cowden Syndrome

A Cause of Pulmonary Cysts

Parvinian, Ahmad, MD; Cox, Christian W., MD; Hartman, Thomas E., MD

doi: 10.1097/RTI.0000000000000358
Web Exclusive Content-Original Article

Objective: To describe the pulmonary imaging findings in patients with Cowden syndrome (CS).

Materials and Methods: A retrospective review identified all patients with CS who underwent dedicated computed tomography examinations of the chest at our institution between January 2000 and October 2017. Patient demographics and imaging characteristics were identified through a review of the electronic medical record and relevant imaging.

Results: Fifteen patients (6 males/9 females; mean age 53 y) with a clinical diagnosis of CS were identified. Genetic confirmation of the PTEN mutation was available in 8/15 (50%) patients. Pulmonary cysts were present in 12/15 (80%) patients and in 8/8 (100%) patients with documented PTEN mutations. The cysts ranged in size from 4 to 63 mm and were <10 in 10/12 (83%). Cysts were distributed randomly in 10/12 (83%) cases. Solid pulmonary nodules were present in 13/15 (87%) patients and were distributed randomly in all cases.

Conclusions: Pulmonary cysts and solid nodules are common in patients with CS. Cysts tend to be distributed randomly, few in number, and may have traversing vessels. These findings should not be interpreted as evidence of another underlying disorder in the setting of CS.

Mayo Clinic, Rochester, MN

The authors declare no conflicts of interest.

Correspondence to: Ahmad Parvinian, MD, Department of Radiology, Mayo Clinic, 200 First St. SW, Rochester, MN 55905 (e-mail: parvinian.ahmad@mayo.edu).

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