一些红细胞增多症患者同时存在多种基因变异。

IF 2 4区 医学 Q3 HEMATOLOGY
Andrea Benetti, Irene Bertozzi, Giulio Ceolotto, Irene Cortella, Daniela Regazzo, Giacomo Biagetti, Elisabetta Cosi, Maria Luigia Randi
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引用次数: 0

摘要

背景:红细胞增多症是一种相对常见的疾病;然而,其中很大一部分患者(70%)仍然没有明确的病因:我们为红细胞增多症患者建立了一个有针对性的 NGS 图谱,并对 118 例特发性红细胞增多症散发性患者进行了研究:结果:在 40 例(34%)患者中未发现任何变异,而在 78 例(66%)患者中,我们发现了至少一个基因变异;55 例(70.5%)患者有 1 个基因改变,18 例(23%)有 2 个基因改变,5 例(6.4%)有 3 个基因改变。51例(57.1%)患者的HFE基因发生了改变,18例(22.6%)患者的EGLN1基因发生了改变,7.7%、10.3%、11.5%和14.1%的患者分别出现了EPAS1、EPOR、JAK2和TFR2变异。23名患者(19.45%)在多个基因中发现了一个以上的推测变异:结论:在我们的队列中,约有 2/3 的红细胞增多症患者检测到了基因变异。包含更多候选基因的 NGS 面板应能减少被诊断为 "特发性 "红细胞增多症但尚未找到病因的病例数量。众所周知,HFE 变异在特发性红细胞增多症中很常见。TFR2变异支持铁代谢相关基因与红细胞生成障碍之间存在关系。还发现了一些新的多重变异。红细胞增多症似乎往往是多基因性的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.

Background: Erythrocytosis is a relatively common condition; however, a large proportion of these patients (70%) remain without a clear etiologic explanation.

Methods: We set up a targeted NGS panel for patients with erythrocytosis, and 118 sporadic patients with idiopathic erythrocytosis were studied.

Results: In 40 (34%) patients, no variant was found, while in 78 (66%), we identified at least one germinal variant; 55 patients (70.5%) had 1 altered gene, 18 (23%) had 2 alterations, and 5 (6.4%) had 3. An altered HFE gene was observed in 51 cases (57.1%), EGLN1 in 18 (22.6%) and EPAS1, EPOR, JAK2, and TFR2 variants in 7.7%, 10.3%, 11.5%, and 14.1% patients, respectively. In 23 patients (19.45%), more than 1 putative variant was found in multiple genes.

Conclusions: Genetic variants in patients with erythrocytosis were detected in about 2/3 of our cohort. An NGS panel including more candidate genes should reduce the number of cases diagnosed as "idiopathic" erythrocytosis in which a cause cannot yet be identified. It is known that HFE variants are common in idiopathic erythrocytosis. TFR2 alterations support the existence of a relationship between genes involved in iron metabolism and impaired erythropoiesis. Some novel multiple variants were identified. Erythrocytosis appears to be often multigenic.

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来源期刊
CiteScore
4.20
自引率
6.20%
发文量
113
审稿时长
12 weeks
期刊介绍: Reciprocal interdependence between infectious and hematologic diseases (malignant and non-malignant) is well known. This relationship is particularly evident in Mediterranean countries. Parasitosis as Malaria, Leishmaniosis, B Hookworms, Teniasis, very common in the southeast Mediterranean area, infect about a billion people and manifest prevalently with anemia so that they are usually diagnosed mostly by experienced hematologist on blood or bone marrow smear. On the other hand, infections are also a significant problem in patients affected by hematological malignancies. The blood is the primary vector of HIV infection, which otherwise manifest with symptoms related to a reduction in T lymphocytes. In turn, infections can favor the insurgency of hematological malignancies. The causative relationship between Epstein-Barr virus infection, Helicobacter pylori, hepatitis C virus, HIV and lymphoproliferative diseases is well known.
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