Τίτλος:
Myelodysplastic syndromes and idiopathic pulmonary fibrosis: A dangerous liaison
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2019 The Author(s).
Συγγραφείς:
Papiris, S.A.
Tsirigotis, P.
Kannengiesser, C.
Kolilekas, L.
Gkirkas, K.
Papaioannou, A.I.
Revy, P.
Giouleka, P.
Papadaki, G.
Kagouridis, K.
Pappa, V.
Borie, R.
Boileau, C.
Bouros, D.
Crestani, B.
Manali, E.D.
Περιοδικό:
BMJ Open Respiratory Research
Εκδότης:
BioMed Central Ltd.
Λέξεις-κλειδιά:
azacitidine, ACD gene; aged; Article; case report; clinical article; DKC1 gene; female; fibrosing alveolitis; gene; genetic analysis; germline mutation; human; male; mutational analysis; myelodysplastic syndrome; NAF1 gene; NHP2 gene; NOP10 gene; onset age; PARN gene; prognostic assessment; restriction fragment; RTEL1 gene; telomere length; TERC gene; TERT gene; TINF2 gene; very elderly; complication; fibrosing alveolitis; genetics; myelodysplastic syndrome; recurrent disease, Aged; Aged, 80 and over; Female; Humans; Idiopathic Pulmonary Fibrosis; Male; Myelodysplastic Syndromes; Symptom Flare Up
DOI:
10.1186/s12931-019-1151-6
