Doubková Martina, Vrzalová Zuzana, Štefániková Marianna, Červinek Libor, Kozubík Kateřina Staňo, Blaháková Ivona, Pospíšilová Šárka, Doubek Michael
Department of Pulmonary Diseases and Tuberculosis, University Hospital and Faculty of Medicine, Brno.
Central European Institute of Technology, Masaryk University, Brno.
Multidiscip Respir Med. 2023 Jun 5;18(1):909. doi: 10.4081/mrm.2023.909. eCollection 2023 Jan 17.
Telomeropathies are associated with a wide range of diseases and less common combinations of various pulmonary and extrapulmonary disorders.
In proband with high-risk myelodysplastic syndrome and interstitial pulmonary fibrosis, whole exome sequencing revealed a germline heterozygous variant of 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 gene variant affects telomere length and leads to telomeropathies.
In our case report, we describe a rare case of coincidence of pulmonary fibrosis and hematological malignancy caused by a germline gene mutation in . Lung diseases and hematologic malignancies associated with short telomeres do not respond well to standard treatment.
端粒病与多种疾病以及各种肺部和肺外疾病的罕见组合有关。
在先证者中，患有高危骨髓增生异常综合征和间质性肺纤维化，全外显子测序揭示了一个基因的种系杂合变异（c.1360delG）。这种“移码”变异导致过早的终止密码子，被分类为可能致病/致病。到目前为止，这种基因变异已在患有血液系统疾病（如特发性再生障碍性贫血或阵发性夜间血红蛋白尿）的成年患者中以杂合状态被描述，也在间质性肺纤维化中被描述。所描述的基因变异影响端粒长度并导致端粒病。
在我们的病例报告中，我们描述了一例由种系基因突变导致的肺纤维化和血液系统恶性肿瘤巧合的罕见病例。与短端粒相关的肺部疾病和血液系统恶性肿瘤对标准治疗反应不佳。
