COEXISTENCE OF MULTIPLE GENE VARIANTS IN SOME PATIENTS WITH ERYTHROCYTOSES Multiple gene variants in erythrocytosis

Main Article Content

Andrea Benetti
Irene Bertozzi, PhD, MD
Giulio Ceolotto
Irene Cortella
Daniela Regazzo
Giacomo Biagetti
Elisabetta Cosi
Maria Luigia Randi, MD, Prof

Keywords

Next Generation Sequencing, Germline Variant, Erythrocytosis, Iron Metabolism

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 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.  

Downloads

Download data is not yet available.


Abstract 298
PDF Downloads 477
HTML Downloads 18