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J Heart Lung Transplant. 2015 Apr;34(4):538-46. doi: 10.1016/j.healun.2014.11.010. Epub 2014 Nov 13.

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

Author information

1
APHP, Hôpital Bichat, DHU FIRE Service de Pneumologie A, Centre de compétence des maladies pulmonaires rares, INSERM, Unité 1152, Université Paris Diderot, Paris, France.
2
Laboratoire de Génétique, APHP, Hôpital Bichat, Université Paris Diderot, Paris, France.
3
Service de Pneumologie, Centre de compétence des maladies pulmonaires rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
4
Service de chirurgie thoracique et de transplantation pulmonaire, Centre Chirurgical Marie Lannelongue, Le Plessis-Robinson, France.
5
Service de Pneumologie B, APHP, Hôpital Bichat, Paris, France.
6
Service de Pneumologie, CHU de Caen, Caen, France.
7
Service de Pneumologie, Centre de compétence des maladies pulmonaires rares, Hôpital Pontchaillou, IRSET UMR 1085, Université de Rennes 1, Rennes, France.
8
Service de Pneumologie, Centre de compétence des maladies pulmonaires rares, Hôpital Tenon, Paris, France.
9
INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
10
Service d'Immunopathologie clinique, APHP, Hôpital St Louis, Paris, France.
11
Service d'Hématologie greffe, centre de référence maladie rare aplasie médullaire, APHP, Hôpital St Louis, Paris, France.
12
Service de Pneumologie, Centre de compétence des maladies pulmonaires rares, CHRU de Lille, Lille, France.
13
Service de Pneumologie, Centre national de référence des maladies pulmonaires rares, Hôpital Louis Pradel, Université Claude Bernard Lyon 1, Lyon, France.
14
APHP, Hôpital Bichat, DHU FIRE Service de Pneumologie A, Centre de compétence des maladies pulmonaires rares, INSERM, Unité 1152, Université Paris Diderot, Paris, France. Electronic address: bruno.crestani@bch.aphp.fr.

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.

KEYWORDS:

familial; genetics; idiopathic pulmonary fibrosis; myelodysplastic syndromes; thrombocytopenia

PMID:
25612863
DOI:
10.1016/j.healun.2014.11.010
[Indexed for MEDLINE]
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