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

Journal of Clinical Medicine

卷:11

Tatiana Wojtovicova¹  Anne Angelillo-Scherrer¹  Annina Capraru¹  Raphael Joncourt¹  Naomi Azur Porret¹  Kristina Vrotniakaite-Bajerciene¹  Alicia Rovó¹  Katarzyna Aleksandra Jalowiec¹  Andre Tichelli²  Noel Frey³  Jakub Jalowiec⁴ 

[1] Department of Haematology and Central Haematology Laboratory, University Hospital/Inselspital Bern, University of Bern, 3010 Bern, Switzerland;

[2] Haematology, University Hospital of Basel, 4031 Basel, Switzerland;

[3] IDSC Insel Data Science Center, University Hospital/Inselspital Bern, University of Bern, 3010 Bern, Switzerland;

[4] Independent Researcher, 02-776 Warsaw, Poland;

关键词: polycythaemia;    erythrocytosis;    JAK2 unmutated;    underlying causes;    thrombotic risk;    work-up;   

DOI  :  10.3390/jcm11123393

来源: DOAJ

【 摘 要 】

(1) Background: Polycythaemia is defined by an increase in haemoglobin (Hb) concentration, haematocrit (Hct) or red blood cell (RBC) count above the reference range adjusted to age, sex and living altitude. JAK2 unmutated polycythaemia is frequent but under-investigated in original publications. In this retrospective cohort study, we investigated the clinical and laboratory data, underlying causes, management and outcomes of JAK2 unmutated polycythaemia patients. (2) Methods: The hospital database was searched to identify JAK2 unmutated patients fulfilling WHO 2016 Hb/Hct criteria for PV (Hb >16.5 g/dL in men and >16 g/dL in women, or Hct > 49% in men and >48% in women, or RBC mass > 25% above mean normal predicted value) between 2008 and 2019. Clinical and laboratory data were collected and analysed. (3) Results: From 727,731 screened patients, 294 (0.04%) were included, the median follow-up time was 47 months. Epo and P50 showed no clear pattern in differentiating causes of polycythaemia. In 30%, the cause remained idiopathic, despite extensive work-up. Sleep apnoea was the primary cause, also in patients under 30. Around 20% had received treatment at any time, half of whom had ongoing treatment at the end of follow-up. During follow-up, 17.2% developed a thromboembolic event, of which 8.5% were venous and 8.8% arterial. The mortality was around 3%. (4) Conclusions: Testing for Epo and P50 did not significantly facilitate identification of underlying causes. The frequency of sleep apnoea stresses the need to investigate this condition. Idiopathic forms are common. A diagnostic flowchart based on our data is proposed here. NGS testing should be considered in young patients with persisting polycythaemia, irrespective of Epo and P50 levels.

【 授权许可】

Unknown