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JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital
(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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9225037/ https://www.ncbi.nlm.nih.gov/pubmed/35743463 http://dx.doi.org/10.3390/jcm11123393 |
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author | Jalowiec, Katarzyna Aleksandra Vrotniakaite-Bajerciene, Kristina Jalowiec, Jakub Frey, Noel Capraru, Annina Wojtovicova, Tatiana Joncourt, Raphael Angelillo-Scherrer, Anne Tichelli, Andre Porret, Naomi Azur Rovó, Alicia |
author_facet | Jalowiec, Katarzyna Aleksandra Vrotniakaite-Bajerciene, Kristina Jalowiec, Jakub Frey, Noel Capraru, Annina Wojtovicova, Tatiana Joncourt, Raphael Angelillo-Scherrer, Anne Tichelli, Andre Porret, Naomi Azur Rovó, Alicia |
author_sort | Jalowiec, Katarzyna Aleksandra |
collection | PubMed |
description | (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. |
format | Online Article Text |
id | pubmed-9225037 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-92250372022-06-24 JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital Jalowiec, Katarzyna Aleksandra Vrotniakaite-Bajerciene, Kristina Jalowiec, Jakub Frey, Noel Capraru, Annina Wojtovicova, Tatiana Joncourt, Raphael Angelillo-Scherrer, Anne Tichelli, Andre Porret, Naomi Azur Rovó, Alicia J Clin Med Article (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. MDPI 2022-06-13 /pmc/articles/PMC9225037/ /pubmed/35743463 http://dx.doi.org/10.3390/jcm11123393 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Jalowiec, Katarzyna Aleksandra Vrotniakaite-Bajerciene, Kristina Jalowiec, Jakub Frey, Noel Capraru, Annina Wojtovicova, Tatiana Joncourt, Raphael Angelillo-Scherrer, Anne Tichelli, Andre Porret, Naomi Azur Rovó, Alicia JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital |
title | JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital |
title_full | JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital |
title_fullStr | JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital |
title_full_unstemmed | JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital |
title_short | JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital |
title_sort | jak2 unmutated polycythaemia—real-world data of 10 years from a tertiary reference hospital |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9225037/ https://www.ncbi.nlm.nih.gov/pubmed/35743463 http://dx.doi.org/10.3390/jcm11123393 |
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