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Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome

M. Doubková, Z. Vrzalová, M. Štefániková, L. Červinek, KS. Kozubík, I. Blaháková, Š. Pospíšilová, M. Doubek

. 2023 ; 18 (1) : 909. [pub] 20230605

Status neindexováno Jazyk angličtina Země Itálie

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc23015890

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.

Citace poskytuje Crossref.org

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$a INTRODUCTION: Telomeropathies are associated with a wide range of diseases and less common combinations of various pulmonary and extrapulmonary disorders. CASE PRESENTATION: In proband with high-risk myelodysplastic syndrome and interstitial pulmonary fibrosis, whole exome sequencing revealed a germline heterozygous variant of CTC1 gene (c.1360delG). This "frameshift" variant results in a premature stop codon and is classified as likely pathogenic/pathogenic. So far, this gene variant has been described in a heterozygous state in adult patients with hematological diseases such as idiopathic aplastic anemia or paroxysmal nocturnal hemoglobinuria, but also in interstitial pulmonary fibrosis. Described CTC1 gene variant affects telomere length and leads to telomeropathies. CONCLUSIONS: In our case report, we describe a rare case of coincidence of pulmonary fibrosis and hematological malignancy caused by a germline gene mutation in CTC1. Lung diseases and hematologic malignancies associated with short telomeres do not respond well to standard treatment.
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$a Štefániková, Marianna $u Department of Pulmonary Diseases and Tuberculosis, University Hospital and Faculty of Medicine, Brno
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$a Červinek, Libor $u Department of Internal Medicine - Hematology and Oncology, University Hospital and Faculty of Medicine, Brno
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$a Doubek, Michael $u Central European Institute of Technology, Masaryk University, Brno $u Department of Internal Medicine - Hematology and Oncology, University Hospital and Faculty of Medicine, Brno $u Department of Medical Genetics and Genomics, University Hospital and Faculty of Medicine, Brno, Czech Republic
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