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
Descripción
Sumario: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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