Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison
Abstract Previous studies have shown that the co-existence of bone marrow failure and pulmonary fibrosis in a single patient or in a family is suggestive of telomere related genes (TRG) germline mutations. This study presents the genetic background, clinical characteristics, and outcome of a group o...
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doaj-8b1c09e0e46346c7b2993906f24080342020-11-25T03:20:48ZengBMCRespiratory Research1465-993X2019-08-012011410.1186/s12931-019-1151-6Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaisonSpyros A. Papiris0Panagiotis Tsirigotis1Caroline Kannengiesser2Lykourgos Kolilekas3Konstantinos Gkirkas4Andriana I. Papaioannou5Patrick Revy6Paschalina Giouleka7Georgia Papadaki8Konstantinos Kagouridis9Vassiliki Pappa10Raphael Borie11Catherine Boileau12Demosthenes Bouros13Bruno Crestani14Effrosyni D. Manali152nd Pulmonary Medicine Department, General University Hospital “Attikon” Medical School, National and Kapodistrian University of Athens2nd Department of Internal Medicine, Hematology Unit, General University Hospital “Attikon” Medical School, National and Kapodistrian University of AthensAPHP Service de Génétique, Hôpital Bichat7th Pulmonary Department, Athens Chest Hospital “Sotiria”2nd Department of Internal Medicine, Hematology Unit, General University Hospital “Attikon” Medical School, National and Kapodistrian University of Athens2nd Pulmonary Medicine Department, General University Hospital “Attikon” Medical School, National and Kapodistrian University of AthensUniversité de Paris2nd Pulmonary Medicine Department, General University Hospital “Attikon” Medical School, National and Kapodistrian University of Athens2nd Pulmonary Medicine Department, General University Hospital “Attikon” Medical School, National and Kapodistrian University of Athens2nd Pulmonary Medicine Department, General University Hospital “Attikon” Medical School, National and Kapodistrian University of Athens2nd Department of Internal Medicine, Hematology Unit, General University Hospital “Attikon” Medical School, National and Kapodistrian University of AthensAPHP, Hôpital Bichat, Service de Pneumologie A, DHU FIRE Centre de référence des maladies pulmonaires raresAPHP Service de Génétique, Hôpital Bichat1st Department of Pneumonology, Athens Chest Hospital “Sotiria”, Athens, Medical School, National and Kapodistrian University of AthensUniversité de Paris2nd Pulmonary Medicine Department, General University Hospital “Attikon” Medical School, National and Kapodistrian University of AthensAbstract Previous studies have shown that the co-existence of bone marrow failure and pulmonary fibrosis in a single patient or in a family is suggestive of telomere related genes (TRG) germline mutations. This study presents the genetic background, clinical characteristics, and outcome of a group of five Greek patients co-affected with IPF and MDS. Four out of five patients developed an IPF acute exacerbation that was not reversible. We failed to detect any mutation in the TERT, TERC, DKC1, TINF2, RTEL1, PARN, NAF1, ACD, NHP2 and NOP10 genes in any patient. Moreover, telomere length was normal in the two patients tested. This could suggest that although the co-occurence of IPF and MDS are suggestive of TRG mutation in patients < 65 years old, in the elderly it may occur without germline mutations and could negatively affect prognosis. Physicians should be aware for possible IPF deterioration and therapeutic options for MDS should be wisely considered.http://link.springer.com/article/10.1186/s12931-019-1151-6 |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Spyros A. Papiris Panagiotis Tsirigotis Caroline Kannengiesser Lykourgos Kolilekas Konstantinos Gkirkas Andriana I. Papaioannou Patrick Revy Paschalina Giouleka Georgia Papadaki Konstantinos Kagouridis Vassiliki Pappa Raphael Borie Catherine Boileau Demosthenes Bouros Bruno Crestani Effrosyni D. Manali |
spellingShingle |
Spyros A. Papiris Panagiotis Tsirigotis Caroline Kannengiesser Lykourgos Kolilekas Konstantinos Gkirkas Andriana I. Papaioannou Patrick Revy Paschalina Giouleka Georgia Papadaki Konstantinos Kagouridis Vassiliki Pappa Raphael Borie Catherine Boileau Demosthenes Bouros Bruno Crestani Effrosyni D. Manali Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison Respiratory Research |
author_facet |
Spyros A. Papiris Panagiotis Tsirigotis Caroline Kannengiesser Lykourgos Kolilekas Konstantinos Gkirkas Andriana I. Papaioannou Patrick Revy Paschalina Giouleka Georgia Papadaki Konstantinos Kagouridis Vassiliki Pappa Raphael Borie Catherine Boileau Demosthenes Bouros Bruno Crestani Effrosyni D. Manali |
author_sort |
Spyros A. Papiris |
title |
Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison |
title_short |
Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison |
title_full |
Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison |
title_fullStr |
Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison |
title_full_unstemmed |
Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison |
title_sort |
myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison |
publisher |
BMC |
series |
Respiratory Research |
issn |
1465-993X |
publishDate |
2019-08-01 |
description |
Abstract Previous studies have shown that the co-existence of bone marrow failure and pulmonary fibrosis in a single patient or in a family is suggestive of telomere related genes (TRG) germline mutations. This study presents the genetic background, clinical characteristics, and outcome of a group of five Greek patients co-affected with IPF and MDS. Four out of five patients developed an IPF acute exacerbation that was not reversible. We failed to detect any mutation in the TERT, TERC, DKC1, TINF2, RTEL1, PARN, NAF1, ACD, NHP2 and NOP10 genes in any patient. Moreover, telomere length was normal in the two patients tested. This could suggest that although the co-occurence of IPF and MDS are suggestive of TRG mutation in patients < 65 years old, in the elderly it may occur without germline mutations and could negatively affect prognosis. Physicians should be aware for possible IPF deterioration and therapeutic options for MDS should be wisely considered. |
url |
http://link.springer.com/article/10.1186/s12931-019-1151-6 |
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