Researchers at the University of Helsinki report that they identified 3 candidate predisposition variants by exome-sequencing for familial polycythemia vera (PV) cases. The investigators, whose findings are published in Human Genomics, report that the identification of specific gene mutations may allow for the possibility to screen persons at higher risk. In addition, gene identification may help improve the diagnosis and treatment of PV.

Polycythemia vera is one of the myeloproliferative neoplasms, and most patients carry a somatic gain-of-function mutation in JAK2 known as the JAK2V617F mutation. The major diagnostic criteria for PV are exceptionally high hemoglobin and presence of JAK2V617F mutation, according to World Health Organization (WHO).

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The team studied the predisposition to PV by exome sequencing (3 cases) in a Finnish PV family with 4 patients. The researchers identified 3 novel predisposition candidate variants: c.1254C > G (p.Phe418Leu) in ZXDC, c.1931C > G (p.Pro644Arg) in ATN1, and c.701G > A (p.Arg234Gln) in LRRC3. They also reported that a rare, predicted benign germline variant, c.2912C > G (p.Ala971Gly) in BCORL1, was observed in all 4 patients.

A greater understanding of the predisposing genes and mutations could lead to new ways of treating and preventing PV.  The investigators report that uncovering the genetic drivers ultimately could lead to improved diagnosis and better quality of life.


1. Hirvonen EA, Pitkänen E, Hemminki K, et al. Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera [published. Human Genomics 2017. Published: 20 April 2017.

This article originally appeared on ONA