ArticleMediterranean journal of hematology and infectious diseases2024
Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.
Article in Mediterranean journal of hematology and infectious diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 4 citations in OpenAlex.
- Synergistic Contribution of HFE H63D Mutation to Secondary Polycythemia Pathogenesis at Moderate-High Altitude: A Retrospective Cohort Study.Diagnostics (Basel, Switzerland) · 2026Article
- Article
- Real-World Impact of Deep Targeted Sequencing on Erythrocytosis and Thrombocytosis Diagnosis: A Reference Centre Experience.Cancers · 2024Article
- Utility of next-generation sequencing in identifying congenital erythrocytosis in patients with idiopathic erythrocytosis.Frontiers in medicine · 2024Article
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8 authors at 1 institution in 1 country.
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Abstract
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 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
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