JAK2 Unmutated Polycythaemia-Real-World Data of 10 Years from a Tertiary Reference Hospital

Area of Science:

• Hematology
• Oncology
• Internal Medicine

Background:

• Polycythaemia is defined by elevated hemoglobin, hematocrit, or red blood cell count.
• JAK2 unmutated polycythaemia is a frequent subtype but remains under-investigated.
• Understanding the causes, management, and outcomes of JAK2 unmutated polycythaemia is crucial.

Purpose of the Study:

• To investigate the clinical and laboratory data of JAK2 unmutated polycythaemia patients.
• To identify the underlying causes, management strategies, and patient outcomes.
• To propose a diagnostic flowchart for JAK2 unmutated polycythaemia.

Main Methods:

• Retrospective cohort study of patients diagnosed between 2008 and 2019.
• Inclusion criteria: JAK2 unmutated status and WHO 2016 polycythaemia vera criteria.
• Data collection included clinical, laboratory, treatment, and outcome information.

Main Results:

• 294 patients (0.04%) were identified with a median follow-up of 47 months.
• 30% of cases remained idiopathic; sleep apnoea was a primary cause, even in young patients.
• 17.2% experienced thromboembolic events; mortality was 3%.

Conclusions:

• Erythropoietin (Epo) and P50 levels did not significantly aid in identifying polycythaemia causes.
• Sleep apnoea screening is vital; idiopathic forms are common.
• Next-generation sequencing (NGS) should be considered for young patients with persistent polycythaemia.