CALR, JAK2 and MPL mutation status in Argentinean patients with BCR-ABL1- negative myeloproliferative neoplasms

Objectives: To establish the frequency of JAK2, MPL and CALR mutations in Argentinean patients with BCR-ABL1-negative myeloproliferative neoplasms (MPN) and to compare their clinical and haematological features. Methods: Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in...

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Autores principales: Ojeda, Mara Jorgelina, Bragós, Irma Margarita, Calvo, Karina, Williams, Gladis Marcela, Carbonell, María Magdalena, Pratti, Arianna Flavia
Formato: article artículo publishedVersion
Lenguaje:Inglés
Publicado: Taylor & Francis 2021
Materias:
Myeloproliferative Neoplasms
Polycythemia Vera
Thrombocythemia, Essential
Primary Myelofibrosis
Calreticulin
JAK2V617F
Thrombopoietin
Acceso en línea:http://hdl.handle.net/2133/19990
http://hdl.handle.net/2133/19990
Aporte de:
Repositorio Hipermedial de la Universidad Nacional de Rosario (UNR) de Universidad Nacional de Rosario
id I15-R121-2133-19990
record_format dspace
institution Universidad Nacional de Rosario
institution_str I-15
repository_str R-121
collection Repositorio Hipermedial de la Universidad Nacional de Rosario (UNR)
language Inglés
orig_language_str_mv eng
topic Myeloproliferative Neoplasms
Polycythemia Vera
Thrombocythemia, Essential
Primary Myelofibrosis
Calreticulin
JAK2V617F
Thrombopoietin
spellingShingle Myeloproliferative Neoplasms
Polycythemia Vera
Thrombocythemia, Essential
Primary Myelofibrosis
Calreticulin
JAK2V617F
Thrombopoietin
Ojeda, Mara Jorgelina
Bragós, Irma Margarita
Calvo, Karina
Williams, Gladis Marcela
Carbonell, María Magdalena
Pratti, Arianna Flavia
CALR, JAK2 and MPL mutation status in Argentinean patients with BCR-ABL1- negative myeloproliferative neoplasms
topic_facet Myeloproliferative Neoplasms
Polycythemia Vera
Thrombocythemia, Essential
Primary Myelofibrosis
Calreticulin
JAK2V617F
Thrombopoietin
description Objectives: To establish the frequency of JAK2, MPL and CALR mutations in Argentinean patients with BCR-ABL1-negative myeloproliferative neoplasms (MPN) and to compare their clinical and haematological features. Methods: Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF). Results: In 94.9% of PV, 85.5% ET and 85.2% PMF, we found mutations in JAK2, MPL or CALR. 74.9% carried JAK2V617F, 12.3% CALR mutations, 2.1% MPL mutations and 10.7% were triple negative. In ET, nine types of CALR mutations were identified, four of which were novel. PMF patients were limited to types 1 and 2, type 2 being more frequent. Discussion: In ET, patients with CALR mutation were younger and had higher platelet counts than those with JAK2V617F and triple negative. In addition, JAK2V617F patients had high leucocyte and haemoglobin values compared with CALR-mutated and triple-negative patients. In PMF, patients with mutant CALR were associated with higher platelet counts. Conclusion: Our study underscores the importance of JAK2, MPL and CALR genotyping for accurate diagnosis of patients with BCR-ABL1-negative MPN.
format article
artículo
publishedVersion
author Ojeda, Mara Jorgelina
Bragós, Irma Margarita
Calvo, Karina
Williams, Gladis Marcela
Carbonell, María Magdalena
Pratti, Arianna Flavia
author_facet Ojeda, Mara Jorgelina
Bragós, Irma Margarita
Calvo, Karina
Williams, Gladis Marcela
Carbonell, María Magdalena
Pratti, Arianna Flavia
author_sort Ojeda, Mara Jorgelina
title CALR, JAK2 and MPL mutation status in Argentinean patients with BCR-ABL1- negative myeloproliferative neoplasms
title_short CALR, JAK2 and MPL mutation status in Argentinean patients with BCR-ABL1- negative myeloproliferative neoplasms
title_full CALR, JAK2 and MPL mutation status in Argentinean patients with BCR-ABL1- negative myeloproliferative neoplasms
title_fullStr CALR, JAK2 and MPL mutation status in Argentinean patients with BCR-ABL1- negative myeloproliferative neoplasms
title_full_unstemmed CALR, JAK2 and MPL mutation status in Argentinean patients with BCR-ABL1- negative myeloproliferative neoplasms
title_sort calr, jak2 and mpl mutation status in argentinean patients with bcr-abl1- negative myeloproliferative neoplasms
publisher Taylor & Francis
publishDate 2021
url http://hdl.handle.net/2133/19990
http://hdl.handle.net/2133/19990
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