Severe hematologic complications after lung transplantation in patients with telomerase complex mutations.

Abstract

BACKGROUND:

Mutations in the telomerase complex (TERT and TR) are associated with pulmonary fibrosis and frequent hematologic manifestations. The aim of this study was to characterize the prognosis of lung transplantation in patients with TERT or TR mutations.

METHODS:

Patients with documented TERT or TR mutations who received a lung transplant between 2007 and 2013 in France were identified via an exhaustive search of the lung transplantation network, one expert genetic laboratory, and the clinical research network on rare pulmonary diseases.

RESULTS:

There were 9 patients (7 men) with TERT (n = 6) or TR (n = 3) mutations who received a single (n = 8) or a double (n = 1) lung transplant for pulmonary fibrosis. Median age was 50 years (range, 35-61 years) at diagnosis and 52 years (range, 37-62 years) at the time of lung transplantation. Thrombocytopenia was present in 7 patients before lung transplantation. After lung transplantation, 6 patients developed myelodysplasia and/or bone marrow failure, directly contributing to death in 4 cases. Anemia was observed in 9 patients, and neutropenia was observed in 3 patients. The median survival after lung transplantation was 214 days (range, 59-1,709 days).

CONCLUSIONS:

Patients with mutations of the telomerase complex are at high risk of severe hematologic complications after lung transplantation, in particular, bone marrow failure. Specific recommendations should be developed for appropriate guidance regarding hematologic risk assessment before transplantation and management of the post-transplantation immunosuppressive regimen.

• Authors: Raphael Borie, Caroline Kannengiesser, Sandrine Hirschi, Jérôme Le Pavec, Hervé Mal, Emmanuel Bergot, Stéphane Jouneau, Jean-Marc Naccache, Patrick Revy, David Boutboul, Régis Peffault de la Tour, Lidwine Wemeau-Stervinou, Francois Philit, Jean-François Cordier, Gabriel Thabut, Bruno Crestani, Vincent Cottin, Groupe d’Etudes et de Recherche sur les Maladies “Orphelines” Pulmonaires (GERM“O”P)
• Journal: The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation (J Heart Lung Transplant) Vol. 34 Issue 4 Pg. 538-46 (Apr 2015) ISSN: 1557-3117 [Electronic] United States
• PMID: 25612863 (Publication Type: Journal Article, Multicenter Study, Observational Study, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2015 International Society for Heart and Lung Transplantation. Published by Elsevier Inc. All rights reserved.

Chemical References

• Telomerase

Topics

• Adult
• Female
• Hematologic Diseases (epidemiology, etiology)
• Humans
• Lung Transplantation (adverse effects)
• Male
• Middle Aged
• Mutation
• Prognosis
• Retrospective Studies
• Severity of Illness Index
• Telomerase (genetics)