Severe hematologic complications after lung transplantation in patients with telomerase complex mutations
Section snippets
Patients
In this retrospective, observational, non-interventional study, all 10 French lung transplant centers were contacted to identify patients with TERT or TR mutations referred for lung transplantation during the period from 2009 to 2013; the genetics laboratory began to perform sequencing of these genes in 2009. In addition, cases were cross-identified through the only genetic laboratory in France that centrally assesses for telomerase mutations and by the Groupe dʼEtudes et de Recherche sur les
Clinical characteristics at diagnosis of PF
From January 2009 to October 2013, 9 patients with TERT or TR mutations received lung transplants in France. The main clinical characteristics of the patients at diagnosis are shown in Table 1. Interstitial lung disease was diagnosed as IPF in 7 patients, pneumoconiosis in 1 patient, and chronic hypersensitivity pneumonitis in 1 patient. In 6 patients, there was some degree of exposure to inhaled contaminants (Table 1). Extrapulmonary manifestations suggestive of telomere syndrome were present
Discussion
The present study is the largest report on outcomes of lung transplantation in a comprehensive series of patients with TERT or TR mutations. The main finding of this study is that hematologic complications following lung transplantation were more frequent in this patient population than in a control group of lung transplant recipients for PF, with possible sepsis related to bone marrow failure, warranting close attention of clinicians in the pre-transplant evaluation and in the post-transplant
Disclosure statement
None of the authors has a financial relationship with a commercial entity that has an interest in the subject of the presented manuscript or other conflicts of interest to disclose. This work was supported by the Chancellerie des Universités de Paris (legs Poix) and by a grant “FPI-SPC” from Université Sorbonne Paris Cité.
The authors thank the following individuals: Elodie Lainey, Thierry Leblanc, Gaelle Dauriat, Olivier Brugière, Anne-Cécile Métivier, Bernard Grandchamp, Peter Dorfmuller,
References (33)
- et al.
Long-term course and prognosis of idiopathic pulmonary fibrosis in the new millennium
Chest
(2011) - et al.
Azathioprine and severe bone marrow depression
Lancet
(1986) - et al.
Subclinical lung disease, macrocytosis, and premature graying in kindreds with telomerase (TERT) mutations
Chest
(2011) - et al.
Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
Blood
(2011) - et al.
The Registry of the International Society for Heart and Lung Transplantation: twenty-seventh official adult lung and heart-lung transplant report—2010
J Heart Lung Transplant
(2010) - et al.
Case-control studies: research in reverse
Lancet
(2002) - et al.
Liver transplantation for hepatocellular carcinoma in a patient with a novel telomerase mutation and steatosis
J Hepatol
(2013) - et al.
Two case reports of successful withdrawal of mycofenolate mofetil after living donor lobar lung transplantation
Transplant Proc
(2013) - et al.
An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management
Am J Respir Crit Care Med
(2011) - et al.
Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a Dutch cohort
Am J Respir Crit Care Med
(2010)
Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: evidence of founder effect among multiplex families in Finland
Thorax
Adult-onset pulmonary fibrosis caused by mutations in telomerase
Proc Natl Acad Sci U S A
Telomerase mutations in families with idiopathic pulmonary fibrosis
N Engl J Med
The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population
PLoS One
Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations
PLoS One
Lung transplantation in telomerase mutation carriers with pulmonary fibrosis
Eur Respir J
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These authors have contributed equally to this work.