Jalowiec, Katarzyna Aleksandra; Vrotniakaite-Bajerciene, Kristina; Capraru, Annina; Wojtovicova, Tatiana; Joncourt, Raphael; Rovó, Alicia; Porret, Naomi A. (2021). NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients. Genes, 12(12), p. 1951. MDPI, Molecular Diversity Preservation International 10.3390/genes12121951
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Abstract: (1) Background: Clinical and molecular data on patients with unexplained erythrocytosis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-gene Next-Generation Sequencing erythrocytosis panel developed at our center was conducted.
(3) Results: In 6/34 (18%) patients, eight different heterozygous gene variants were found. These patients were, therefore, diagnosed with congenital erythrocytosis. Two patients had two different gene variants each. All variants were characterized as variants of unknown significance as they had not previously been described in the literature. The rest of the patients (28/34, 82%) had no detected gene variants. (4) Conclusions: Our experience shows that the NGS panel can be helpful in determining the reasons for persistent, unexplained erythrocytosis. In our cohort of patients with erythrocytosis, we identified some, thus far unknown, gene variants which may explain the clinical picture. However, further investigations are needed to determine the relationship between the molecular findings and the phenotype.
Keywords: erythrocytosis; polycythemia; NGS
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory 04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Hämatologie (Erwachsene) |
UniBE Contributor: |
Jalowiec, Katarzyna Aleksandra, Vrotniakaite-Bajerciene, Kristina, Capraru, Annina, Wojtovicova, Tatiana, Joncourt, Raphael, Rovó, Alicia, Porret, Naomi |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
2073-4425 |
Publisher: |
MDPI, Molecular Diversity Preservation International |
Language: |
English |
Submitter: |
Pierrette Durand Lüthi |
Date Deposited: |
10 Jan 2022 10:00 |
Last Modified: |
21 Mar 2024 17:41 |
Publisher DOI: |
10.3390/genes12121951 |
PubMed ID: |
34946900 |
BORIS DOI: |
10.48350/162619 |
URI: |
https://boris.unibe.ch/id/eprint/162619 |
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