title: Clinical outcomes of lung transplant recipients with telomerase mutations.
abstract: BACKGROUND
  Successful lung transplantation for patients with pulmonary fibrosis from telomerase mutations may be limited by systemic complications of telomerase dysfunction, including myelosuppression, cirrhosis, and malignancy. We describe clinical outcomes in 14 lung transplant recipients with telomerase mutations.
  
  
  METHODS
  Subjects underwent lung transplantation between February 2005 and April 2014 at 5 transplant centers. Data were abstracted from medical records, focusing on outcomes reflecting post-transplant treatment effects likely to be complicated by telomerase mutations.
  
  
  RESULTS
  The median age of subjects was 60.5 years (interquartile range = 52.0-62.0), 64.3% were male, and the mean post-transplant observation time was 3.2 years (SD ± 2.9). A mutation in telomerase reverse transcriptase was present in 11 subjects, a telomerase RNA component mutation was present in 2 subjects, and an uncharacterized mutation was present in 1 subject. After lung transplantation, 10 subjects were leukopenic and 5 did not tolerate lymphocyte anti-proliferative agents. Six subjects developed recurrent lower respiratory tract infections, 7 developed acute cellular rejection (A1), and 4 developed chronic lung allograft dysfunction. Eight subjects developed at least 1 episode of acute renal failure and 10 developed chronic renal insufficiency. In addition, 3 subjects developed cancer. No subjects had cirrhosis. At data censorship, 13 subjects were alive.
  
  
  CONCLUSIONS
  The clinical course for lung transplant recipients with telomerase mutations is complicated by renal disease, leukopenia with intolerance of lymphocyte anti-proliferative agents, and recurrent lower respiratory tract infections. In contrast, cirrhosis was absent, acute cellular rejection was mild, and development of chronic lung allograft dysfunction was comparable to other lung transplant recipients. Although it poses challenges, lung transplantation may be feasible for patients with pulmonary fibrosis from telomerase mutations.
authors.affiliation: Division of Pulmonary and Critical Care Medicine, University of California, San Francisco Medical Center, San Francisco, California. Electronic address: sofya.tokman@gmail.com.
authors.forename: Sofya
authors.initials: S
authors.lastname: Tokman
authors.affiliation: Division of Pulmonary and Critical Care Medicine, University of California, San Francisco Medical Center, San Francisco, California.
authors.forename: Jonathan P
authors.initials: JP
authors.lastname: Singer
authors.affiliation: Division of Pulmonary and Critical Care Medicine, University of Texas Southwestern Medical Center, Dallas, Texas.
authors.forename: Megan S
authors.initials: MS
authors.lastname: Devine
authors.affiliation: Division of Respiratory Medicine, Alfred Hospital, Melbourne, Australia.
authors.forename: Glen P
authors.initials: GP
authors.lastname: Westall
authors.affiliation: Division of Respiratory Medicine, Lausanne University Hospital, Lausanne, Switzerland.
authors.forename: John-David
authors.initials: JD
authors.lastname: Aubert
authors.affiliation: Division of Respiratory Medicine, Basel University Hospital, Basel, Switzerland.
authors.forename: Michael
authors.initials: M
authors.lastname: Tamm
authors.affiliation: Division of Respiratory Medicine, Alfred Hospital, Melbourne, Australia.
authors.forename: Gregory I
authors.initials: GI
authors.lastname: Snell
authors.affiliation: Division of Pulmonary and Critical Care Medicine, University of California, San Francisco Medical Center, San Francisco, California.
authors.forename: Joyce S
authors.initials: JS
authors.lastname: Lee
authors.affiliation: Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Hilary J
authors.initials: HJ
authors.lastname: Goldberg
authors.affiliation: Division of Cardiothoracic Surgery, University of California, San Francisco Medical Center, San Francisco, California.
authors.forename: Jasleen
authors.initials: J
authors.lastname: Kukreja
authors.affiliation: Division of Pulmonary and Critical Care Medicine, University of California, San Francisco Medical Center, San Francisco, California.
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Golden
authors.affiliation: Division of Pulmonary and Critical Care Medicine, University of California, San Francisco Medical Center, San Francisco, California.
authors.forename: Lorriana E
authors.initials: LE
authors.lastname: Leard
authors.affiliation: Division of Pulmonary and Critical Care Medicine, University of Texas Southwestern Medical Center, Dallas, Texas.
authors.forename: Christine K
authors.initials: CK
authors.lastname: Garcia
authors.affiliation: Division of Pulmonary and Critical Care Medicine, University of California, San Francisco Medical Center, San Francisco, California.
authors.forename: Steven R
authors.initials: SR
authors.lastname: Hays
mesh_terms: D005260:Female; D006084:Graft Rejection; D006801:Humans; D016040:Lung Transplantation; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011658:Pulmonary Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D012189:Retrospective Studies; D019098:Telomerase / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D019098:Telomerase
keywords: lung transplantation; pulmonary fibrosis; telomerase mutations; telomere; telomere syndrome