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

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F23%3A00078121" target="_blank" >RIV/65269705:_____/23:00078121 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216224:14110/23:00131222

Výsledek na webu

<a href="https://mrmjournal.org/mrm/article/view/909" target="_blank" >https://mrmjournal.org/mrm/article/view/909</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.4081/mrm.2023.909" target="_blank" >10.4081/mrm.2023.909</a>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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 &quot;frameshift&quot; 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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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 &quot;frameshift&quot; 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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30203 - Respiratory systems

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2023

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Multidisciplinary Respiratory Medicine

ISSN

1828-695X

e-ISSN

2049-6958

Svazek periodika

18

Číslo periodika v rámci svazku

JUN 2023

Stát vydavatele periodika

IT - Italská republika

Počet stran výsledku

5

Strana od-do

909

Kód UT WoS článku

001009940900001

EID výsledku v databázi Scopus

2-s2.0-85166355988