Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera

Abstract In 2016, the WHO included haemoglobin values within normal ranges as a diagnostic criterion for Polycythaemia Vera (PV). Since then, concerns have arisen that a large number of patients are undergoing unnecessary screening for PV. To address this issue, we estimated the prevalence of JAK2 p...

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Autores principales:	Miguel Piris-Villaespesa, Alberto Álvarez-Larrán, Adolfo Saez-Marín, Claudia Nuñez-Torrón, Gloria Muñoz-Martin, Ricardo Sánchez, Francisco J. del Castillo, Jesús Villarrubia, Javier Lopez-Jimenez, Joaquin Martinez-Lopez, Valentin Garcia-Gutierrez
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/560245e2949f4728a1b3dea54258ebdf
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spelling	oai:doaj.org-article:560245e2949f4728a1b3dea54258ebdf2021-12-02T11:46:07ZDevelopment and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera10.1038/s41598-020-80459-y2045-2322https://doaj.org/article/560245e2949f4728a1b3dea54258ebdf2021-01-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-80459-yhttps://doaj.org/toc/2045-2322Abstract In 2016, the WHO included haemoglobin values within normal ranges as a diagnostic criterion for Polycythaemia Vera (PV). Since then, concerns have arisen that a large number of patients are undergoing unnecessary screening for PV. To address this issue, we estimated the prevalence of JAK2 p.V617F in individuals with elevated haemoglobin or haematocrit and developed and validated a screening algorithm for PV. A total of 15,366 blood counts performed in seven non-consecutive days were reviewed, of which 1001 were selected for subsequent JAK2 p.V617F mutation screening. Eight (0.8%) new JAK2 p.V617F-mutated cases were detected. From ROC curves, a two-step algorithm was developed based on the optimal cut-off for the detection of the JAK2 p.V617F mutation. The algorithm was prospectively validated in an independent cohort of 15,298 blood counts. A total of 1595 (10.4%) cases met the criterion for haemoglobin or haematocrit, of whom 581 passed to step 2 (3.8% of the total). The JAK2 p.V617F mutation was detected in 7 of the 501 patients tested, which accounts for 0.04% of the total cohort and 0.4% of patients with erythrocytosis. In conclusion, this data show that our two-step algorithm improves the selection of candidates for JAK2 p.V617F testing.Miguel Piris-VillaespesaAlberto Álvarez-LarránAdolfo Saez-MarínClaudia Nuñez-TorrónGloria Muñoz-MartinRicardo SánchezFrancisco J. del CastilloJesús VillarrubiaJavier Lopez-JimenezJoaquin Martinez-LopezValentin Garcia-GutierrezNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Miguel Piris-Villaespesa Alberto Álvarez-Larrán Adolfo Saez-Marín Claudia Nuñez-Torrón Gloria Muñoz-Martin Ricardo Sánchez Francisco J. del Castillo Jesús Villarrubia Javier Lopez-Jimenez Joaquin Martinez-Lopez Valentin Garcia-Gutierrez Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera
description	Abstract In 2016, the WHO included haemoglobin values within normal ranges as a diagnostic criterion for Polycythaemia Vera (PV). Since then, concerns have arisen that a large number of patients are undergoing unnecessary screening for PV. To address this issue, we estimated the prevalence of JAK2 p.V617F in individuals with elevated haemoglobin or haematocrit and developed and validated a screening algorithm for PV. A total of 15,366 blood counts performed in seven non-consecutive days were reviewed, of which 1001 were selected for subsequent JAK2 p.V617F mutation screening. Eight (0.8%) new JAK2 p.V617F-mutated cases were detected. From ROC curves, a two-step algorithm was developed based on the optimal cut-off for the detection of the JAK2 p.V617F mutation. The algorithm was prospectively validated in an independent cohort of 15,298 blood counts. A total of 1595 (10.4%) cases met the criterion for haemoglobin or haematocrit, of whom 581 passed to step 2 (3.8% of the total). The JAK2 p.V617F mutation was detected in 7 of the 501 patients tested, which accounts for 0.04% of the total cohort and 0.4% of patients with erythrocytosis. In conclusion, this data show that our two-step algorithm improves the selection of candidates for JAK2 p.V617F testing.
format	article
author	Miguel Piris-Villaespesa Alberto Álvarez-Larrán Adolfo Saez-Marín Claudia Nuñez-Torrón Gloria Muñoz-Martin Ricardo Sánchez Francisco J. del Castillo Jesús Villarrubia Javier Lopez-Jimenez Joaquin Martinez-Lopez Valentin Garcia-Gutierrez
author_facet	Miguel Piris-Villaespesa Alberto Álvarez-Larrán Adolfo Saez-Marín Claudia Nuñez-Torrón Gloria Muñoz-Martin Ricardo Sánchez Francisco J. del Castillo Jesús Villarrubia Javier Lopez-Jimenez Joaquin Martinez-Lopez Valentin Garcia-Gutierrez
author_sort	Miguel Piris-Villaespesa
title	Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera
title_short	Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera
title_full	Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera
title_fullStr	Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera
title_full_unstemmed	Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera
title_sort	development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/560245e2949f4728a1b3dea54258ebdf
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Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera

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