Cowden Syndrome: A Cause of Pulmonary Cysts

Journal of Thoracic Imaging
Ahmad ParvinianThomas E Hartman

Abstract

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

References

Nov 1, 1983·Journal of the American Academy of Dermatology·H Aram, M Zidenbaum
May 1, 1983·Journal of the American Academy of Dermatology·O S Salem, W D Steck
Jan 1, 1993·Internal Medicine·M SasakiT Ishihara
May 1, 1996·Nature Genetics·M R NelenC Eng
Feb 18, 2003·Respiratory Medicine·V CottinJ F Cordier
Jan 1, 1963·Annals of Internal Medicine·K M LLOYD, M DENNIS
Aug 12, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Judith A Hobert, Charis Eng
Jan 25, 2011·AJR. American Journal of Roentgenology·Prachi P AgarwalElla A Kazerooni
May 25, 2011·AJR. American Journal of Roentgenology·Danielle M SeamanFrancis X McCormack
Dec 25, 2012·Lung Cancer : Journal of the International Association for the Study of Lung Cancer·Amélie BoespflugPierre-Jean Souquet
Feb 7, 2013·European Journal of Human Genetics : EJHG·Laura Maria PradellaGiuseppe Gasparre
Jun 5, 2013·Journal of Clinical Pathology·Belinda E Clarke
Oct 19, 2013·Journal of the National Cancer Institute·Robert PilarskiElizabeth Swisher
Dec 19, 2013·Anais Brasileiros De Dermatologia·Ana Carolina Souza PortoThomas Ruzicka
Oct 30, 2015·Chest·Ana C ZamoraJay H Ryu
Mar 5, 2016·Interactive Cardiovascular and Thoracic Surgery·Hiroaki TsunezukaMasayoshi Inoue
May 28, 2016·Seminars in Respiratory and Critical Care Medicine·Kai-Feng XuBee Hong Lo
Aug 16, 2016·Clinics in Chest Medicine·Tanmay S PanchabhaiKristin B Highland

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