NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients
(1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis 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-g...
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MDPI AG
2021-12-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/12/1951 |
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| author | Katarzyna Aleksandra Jalowiec Kristina Vrotniakaite-Bajerciene Annina Capraru Tatiana Wojtovicova Raphael Joncourt Alicia Rovó Naomi A. Porret |
| author_facet | Katarzyna Aleksandra Jalowiec Kristina Vrotniakaite-Bajerciene Annina Capraru Tatiana Wojtovicova Raphael Joncourt Alicia Rovó Naomi A. Porret |
| author_sort | Katarzyna Aleksandra Jalowiec |
| collection | DOAJ |
| description | (1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis 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. |
| first_indexed | 2024-03-10T04:02:11Z |
| format | Article |
| id | doaj.art-354e7b797d43447bb7bb6a1f7b4f7de1 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T04:02:11Z |
| publishDate | 2021-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-354e7b797d43447bb7bb6a1f7b4f7de12023-11-23T08:30:50ZengMDPI AGGenes2073-44252021-12-011212195110.3390/genes12121951NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis PatientsKatarzyna Aleksandra Jalowiec0Kristina Vrotniakaite-Bajerciene1Annina Capraru2Tatiana Wojtovicova3Raphael Joncourt4Alicia Rovó5Naomi A. Porret6Department of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, SwitzerlandDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, SwitzerlandDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, SwitzerlandDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, SwitzerlandDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, SwitzerlandDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, SwitzerlandDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, Switzerland(1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis 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.https://www.mdpi.com/2073-4425/12/12/1951erythrocytosispolycythemiaNGS |
| spellingShingle | Katarzyna Aleksandra Jalowiec Kristina Vrotniakaite-Bajerciene Annina Capraru Tatiana Wojtovicova Raphael Joncourt Alicia Rovó Naomi A. Porret NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients Genes erythrocytosis polycythemia NGS |
| title | NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients |
| title_full | NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients |
| title_fullStr | NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients |
| title_full_unstemmed | NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients |
| title_short | NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients |
| title_sort | ngs evaluation of a bernese cohort of unexplained erythrocytosis patients |
| topic | erythrocytosis polycythemia NGS |
| url | https://www.mdpi.com/2073-4425/12/12/1951 |
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