2022
DOI: 10.3390/genes13101686
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Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review

Abstract: Primary familial and congenital polycythemia is a rare disease characterized by an increase in red cell mass that may be due to pathogenic variants in the EPO receptor (EPOR) gene. To date, 33 genetic variants have been reported to be associated. We analyzed the presence of EPOR variants in two patients with polycythemia in whom JAK2 pathogenic variants had been previously discarded. Molecular analysis of the EPOR gene was performed by Sanger sequencing of the coding regions and exon/intron boundaries of exon … Show more

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“…According to ACMG/AMP guidelines, among the 35 EPOR variants reported to be associated with PFCP to date, 4 are classified as benign or likely benign, 3 are variants of uncertain significance, and 28 are pathogenic or likely pathogenic 6 .…”
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confidence: 99%
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“…According to ACMG/AMP guidelines, among the 35 EPOR variants reported to be associated with PFCP to date, 4 are classified as benign or likely benign, 3 are variants of uncertain significance, and 28 are pathogenic or likely pathogenic 6 .…”
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confidence: 99%
“…Surprisingly, to date, no study has been carried out to investigate possible complications, particularly vascular ones, in patients with an EPOR mutation: at most, some case reports described possible complications, but these reports involved very few patients, and data on treatment were not always provided. To the best of our knowledge, 130 cases had been reported in the literature so far, 25 with information on the presence or absence of thrombotic events, and 18 with information on treatment, mainly phlebotomy but without a clear benefit on thrombosis [5][6][7] . Most of the reported cases had not been treated using low-dose aspirin, mainly due to the fact that EPORrelated polycythemia was considered benign, as opposed to polycythemia vera, for which the prevention of thrombotic risk by low-dose aspirin has long been demonstrated.…”
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