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 st...
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PAGEPress Publications
2024-02-01
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| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
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| Online Access: | https://www.mjhid.org/mjhid/article/view/5538 |
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| author | Andrea Benetti Irene Bertozzi, PhD, MD Giulio Ceolotto Irene Cortella Daniela Regazzo Giacomo Biagetti Elisabetta Cosi Maria Luigia Randi, MD, Prof |
| author_facet | Andrea Benetti Irene Bertozzi, PhD, MD Giulio Ceolotto Irene Cortella Daniela Regazzo Giacomo Biagetti Elisabetta Cosi Maria Luigia Randi, MD, Prof |
| author_sort | Andrea Benetti |
| collection | DOAJ |
| description |
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. A NGS panel including more candidate genes should reduce the number of cases diagnosed as “idiopathic” erythrocytosis in whom a cause cannot yet be identified. It is known that HFE variants are common in idiopathic erythrocytosis. TFR2 alterations supports 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 of multigenic nature.
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| format | Article |
| id | doaj-art-67e3cf59b6f44b49882a4f63df60536b |
| institution | Kabale University |
| issn | 2035-3006 |
| language | English |
| publishDate | 2024-02-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj-art-67e3cf59b6f44b49882a4f63df60536b2025-01-02T23:27:44ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062024-02-0116110.4084/MJHID.2024.021COEXISTENCE OF MULTIPLE GENE VARIANTS IN SOME PATIENTS WITH ERYTHROCYTOSESAndrea Benetti0Irene Bertozzi, PhD, MD1Giulio Ceolotto2Irene Cortella3Daniela Regazzo4Giacomo Biagetti5Elisabetta Cosi6Maria Luigia Randi, MD, Prof7First Medical Clinic, Department of Medicine – DIMED, University of PadovaFirst Medical Clinic, Department of Medicine – DIMED, University of PadovaEmergency Medicine, Department of Medicine – DIMED, University of PadovaFirst Medical Clinic, Department of Medicine – DIMED, University of PadovaFirst Medical Clinic, Department of Medicine – DIMED, University of PadovaFirst Medical Clinic, Department of Medicine – DIMED, University of PadovaFirst Medical Clinic, Department of Medicine – DIMED, University of PadovaFirst Medical Clinic, Department of Medicine – DIMED, University of Padova 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. A NGS panel including more candidate genes should reduce the number of cases diagnosed as “idiopathic” erythrocytosis in whom a cause cannot yet be identified. It is known that HFE variants are common in idiopathic erythrocytosis. TFR2 alterations supports 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 of multigenic nature. https://www.mjhid.org/mjhid/article/view/5538Next Generation SequencingGermline VariantErythrocytosisIron Metabolism |
| spellingShingle | Andrea Benetti Irene Bertozzi, PhD, MD Giulio Ceolotto Irene Cortella Daniela Regazzo Giacomo Biagetti Elisabetta Cosi Maria Luigia Randi, MD, Prof COEXISTENCE OF MULTIPLE GENE VARIANTS IN SOME PATIENTS WITH ERYTHROCYTOSES Mediterranean Journal of Hematology and Infectious Diseases Next Generation Sequencing Germline Variant Erythrocytosis Iron Metabolism |
| title | COEXISTENCE OF MULTIPLE GENE VARIANTS IN SOME PATIENTS WITH ERYTHROCYTOSES |
| title_full | COEXISTENCE OF MULTIPLE GENE VARIANTS IN SOME PATIENTS WITH ERYTHROCYTOSES |
| title_fullStr | COEXISTENCE OF MULTIPLE GENE VARIANTS IN SOME PATIENTS WITH ERYTHROCYTOSES |
| title_full_unstemmed | COEXISTENCE OF MULTIPLE GENE VARIANTS IN SOME PATIENTS WITH ERYTHROCYTOSES |
| title_short | COEXISTENCE OF MULTIPLE GENE VARIANTS IN SOME PATIENTS WITH ERYTHROCYTOSES |
| title_sort | coexistence of multiple gene variants in some patients with erythrocytoses |
| topic | Next Generation Sequencing Germline Variant Erythrocytosis Iron Metabolism |
| url | https://www.mjhid.org/mjhid/article/view/5538 |
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