NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients

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 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)

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

Language:

English

Submitter:

Pierrette Durand Lüthi

Date Deposited:

10 Jan 2022 10:00

Last Modified:

07 Aug 2024 15:45

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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