Familial essential thrombocythemia: 6 cases from a mono‐institutional series

Rarely essential thrombocythemia (ET) is diagnosed in more than one person within a family. Familial myeloproliferative neoplasms are underdiagnosed. In this report, we describe 6 couples of familial ET, evaluating the heterogeneity of the mutational state and the clinical presentation.

Detalles Bibliográficos
Autores principales: Accurso, Vincenzo, Santoro, Marco, Mancuso, Salvatrice, Vajana, Giorgia, Tomasello, Riccardo, Rotolo, Cristina, Camarda, Giulia, Mattana, Marta, Siragusa, Sergio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886651/
https://www.ncbi.nlm.nih.gov/pubmed/35251652
http://dx.doi.org/10.1002/ccr3.5525
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author Accurso, Vincenzo
Santoro, Marco
Mancuso, Salvatrice
Vajana, Giorgia
Tomasello, Riccardo
Rotolo, Cristina
Camarda, Giulia
Mattana, Marta
Siragusa, Sergio
author_facet Accurso, Vincenzo
Santoro, Marco
Mancuso, Salvatrice
Vajana, Giorgia
Tomasello, Riccardo
Rotolo, Cristina
Camarda, Giulia
Mattana, Marta
Siragusa, Sergio
author_sort Accurso, Vincenzo
collection PubMed
description Rarely essential thrombocythemia (ET) is diagnosed in more than one person within a family. Familial myeloproliferative neoplasms are underdiagnosed. In this report, we describe 6 couples of familial ET, evaluating the heterogeneity of the mutational state and the clinical presentation.
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spelling pubmed-88866512022-03-04 Familial essential thrombocythemia: 6 cases from a mono‐institutional series Accurso, Vincenzo Santoro, Marco Mancuso, Salvatrice Vajana, Giorgia Tomasello, Riccardo Rotolo, Cristina Camarda, Giulia Mattana, Marta Siragusa, Sergio Clin Case Rep Case Reports Rarely essential thrombocythemia (ET) is diagnosed in more than one person within a family. Familial myeloproliferative neoplasms are underdiagnosed. In this report, we describe 6 couples of familial ET, evaluating the heterogeneity of the mutational state and the clinical presentation. John Wiley and Sons Inc. 2022-03-01 /pmc/articles/PMC8886651/ /pubmed/35251652 http://dx.doi.org/10.1002/ccr3.5525 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Accurso, Vincenzo
Santoro, Marco
Mancuso, Salvatrice
Vajana, Giorgia
Tomasello, Riccardo
Rotolo, Cristina
Camarda, Giulia
Mattana, Marta
Siragusa, Sergio
Familial essential thrombocythemia: 6 cases from a mono‐institutional series
title Familial essential thrombocythemia: 6 cases from a mono‐institutional series
title_full Familial essential thrombocythemia: 6 cases from a mono‐institutional series
title_fullStr Familial essential thrombocythemia: 6 cases from a mono‐institutional series
title_full_unstemmed Familial essential thrombocythemia: 6 cases from a mono‐institutional series
title_short Familial essential thrombocythemia: 6 cases from a mono‐institutional series
title_sort familial essential thrombocythemia: 6 cases from a mono‐institutional series
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886651/
https://www.ncbi.nlm.nih.gov/pubmed/35251652
http://dx.doi.org/10.1002/ccr3.5525
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