DOUBKOVÁ, Martina, Zuzana VRZALOVÁ, Marianna ŠTEFÁNIKOVÁ, Libor ČERVINEK, Kateřina STAŇO KOZUBÍK, Ivona BLAHÁKOVÁ, Šárka POSPÍŠILOVÁ a Michael DOUBEK. Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome. MULTIDISCIPLINARY RESPIRATORY MEDICINE. PAVIA: PAGEPRESS PUBL, 2023, roč. 18, June 2023, s. 1-5. ISSN 1828-695X. Dostupné z: 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 a Michael DOUBEK. Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome. \textit{MULTIDISCIPLINARY RESPIRATORY MEDICINE}. PAVIA: PAGEPRESS PUBL, 2023, roč.~18, June 2023, s.~1-5. ISSN~1828-695X. Dostupné z: https://dx.doi.org/10.4081/mrm.2023.909.
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