| DOUBKOVÁ, Martina, Zuzana VRZALOVÁ, Marianna ŠTEFÁNIKOVÁ, Libor ČERVINEK, Kateřina STAŇO KOZUBÍK, Ivona BLAHÁKOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome. MULTIDISCIPLINARY RESPIRATORY MEDICINE. PAVIA: PAGEPRESS PUBL, 2023, vol. 18, June 2023, p. 1-5. ISSN 1828-695X. Available from: https://dx.doi.org/10.4081/mrm.2023.909. |
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@article{2297217,
author = {Doubková, Martina and Vrzalová, Zuzana and Štefániková, Marianna and Červinek, Libor and Staňo Kozubík, Kateřina and Blaháková, Ivona and Pospíšilová, Šárka and Doubek, Michael},
article_location = {PAVIA},
article_number = {June 2023},
doi = {http://dx.doi.org/10.4081/mrm.2023.909},
keywords = {CTC1 gene; interstitial pulmonary fibrosis; myelodysplastic syndrome},
language = {eng},
issn = {1828-695X},
journal = {MULTIDISCIPLINARY RESPIRATORY MEDICINE},
title = {Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome},
url = {https://mrmjournal.org/mrm/article/view/909},
volume = {18},
year = {2023}
}
TY - JOUR
ID - 2297217
AU - Doubková, Martina - Vrzalová, Zuzana - Štefániková, Marianna - Červinek, Libor - Staňo Kozubík, Kateřina - Blaháková, Ivona - Pospíšilová, Šárka - Doubek, Michael
PY - 2023
TI - Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome
JF - MULTIDISCIPLINARY RESPIRATORY MEDICINE
VL - 18
IS - June 2023
SP - 1-5
EP - 1-5
PB - PAGEPRESS PUBL
SN - 1828695X
KW - CTC1 gene
KW - interstitial pulmonary fibrosis
KW - myelodysplastic syndrome
UR - https://mrmjournal.org/mrm/article/view/909
N2 - Introduction: Telomeropathies are associated with a wide range of diseases and less common combinations of various pulmonary and extrapulmonary disorders.Case presentation: In proband with high-risk myelodysplastic syndrome and interstitial pulmonary fibrosis, whole exome sequencing revealed a germline heterozygous variant of CTC1 gene (c.1360delG). This "frameshift" variant results in a premature stop codon and is classified as likely pathogenic/pathogenic. So far, this gene variant has been described in a heterozygous state in adult patients with hematological diseases such as idiopathic aplastic anemia or paroxysmal nocturnal hemoglobinuria, but also in interstitial pulmonary fibrosis. Described CTC1 gene variant affects telomere length and leads to telomeropathies.Conclusions: In our case report, we describe a rare case of coincidence of pulmonary fibrosis and hematological malignancy caused by a germline gene mutation in CTC1. Lung diseases and hematologic malignancies associated with short telomeres do not respond well to standard treatment.
ER -
DOUBKOVÁ, Martina, Zuzana VRZALOVÁ, Marianna ŠTEFÁNIKOVÁ, Libor ČERVINEK, Kateřina STAŇO KOZUBÍK, Ivona BLAHÁKOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome. \textit{MULTIDISCIPLINARY RESPIRATORY MEDICINE}. PAVIA: PAGEPRESS PUBL, 2023, vol.~18, June 2023, p.~1-5. ISSN~1828-695X. Available from: https://dx.doi.org/10.4081/mrm.2023.909.
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