Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing

Chronic myeloproliferative neoplasms (MPNs) are hematopoietic stem cell neoplasms with driver events including the BCR-ABL1 translocation leading to a diagnosis of chronic myeloid leukemia (CML), or somatic mutations in JAK2, CALR, or MPL resu...

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Autores principales:	Arti Easwar, Alexa J. Siddon
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	hematopathology myeloproliferative neoplasms chronic myeloid leukemia <i>BCR-ABL1</i> molecular diagnostics Science Q
Acceso en línea:	https://doaj.org/article/7828a2d3972e43d98c73a3cab89a45ab
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spelling	oai:doaj.org-article:7828a2d3972e43d98c73a3cab89a45ab2021-11-25T18:10:46ZGenetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing10.3390/life111111582075-1729https://doaj.org/article/7828a2d3972e43d98c73a3cab89a45ab2021-10-01T00:00:00Zhttps://www.mdpi.com/2075-1729/11/11/1158https://doaj.org/toc/2075-1729Chronic myeloproliferative neoplasms (MPNs) are hematopoietic stem cell neoplasms with driver events including the <i>BCR-ABL1</i> translocation leading to a diagnosis of chronic myeloid leukemia (CML), or somatic mutations in <i>JAK2</i>, <i>CALR</i>, or MPL resulting in Philadelphia-chromosome-negative MPNs with constitutive activation of the JAK-STAT signaling pathway. In the Philadelphia-chromosome-negative MPNs, modern sequencing panels have identified a vast molecular landscape including additional mutations in genes involved in splicing, signal transduction, DNA methylation, and chromatin modification such as <i>ASXL1</i>, <i>SF3B1</i>, <i>SRSF2</i>, and <i>U2AF1</i>. These additional mutations often influence prognosis in MPNs and therefore are increasingly important for risk stratification. This review focuses on the molecular alterations within the WHO classification of MPNs and laboratory testing used for diagnosis.Arti EaswarAlexa J. SiddonMDPI AGarticlehematopathologymyeloproliferative neoplasmschronic myeloid leukemia<i>BCR-ABL1</i>molecular diagnosticsScienceQENLife, Vol 11, Iss 1158, p 1158 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	hematopathology myeloproliferative neoplasms chronic myeloid leukemia <i>BCR-ABL1</i> molecular diagnostics Science Q
spellingShingle	hematopathology myeloproliferative neoplasms chronic myeloid leukemia <i>BCR-ABL1</i> molecular diagnostics Science Q Arti Easwar Alexa J. Siddon Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing
description	Chronic myeloproliferative neoplasms (MPNs) are hematopoietic stem cell neoplasms with driver events including the <i>BCR-ABL1</i> translocation leading to a diagnosis of chronic myeloid leukemia (CML), or somatic mutations in <i>JAK2</i>, <i>CALR</i>, or MPL resulting in Philadelphia-chromosome-negative MPNs with constitutive activation of the JAK-STAT signaling pathway. In the Philadelphia-chromosome-negative MPNs, modern sequencing panels have identified a vast molecular landscape including additional mutations in genes involved in splicing, signal transduction, DNA methylation, and chromatin modification such as <i>ASXL1</i>, <i>SF3B1</i>, <i>SRSF2</i>, and <i>U2AF1</i>. These additional mutations often influence prognosis in MPNs and therefore are increasingly important for risk stratification. This review focuses on the molecular alterations within the WHO classification of MPNs and laboratory testing used for diagnosis.
format	article
author	Arti Easwar Alexa J. Siddon
author_facet	Arti Easwar Alexa J. Siddon
author_sort	Arti Easwar
title	Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing
title_short	Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing
title_full	Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing
title_fullStr	Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing
title_full_unstemmed	Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing
title_sort	genetic landscape of myeloproliferative neoplasms with an emphasis on molecular diagnostic laboratory testing
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/7828a2d3972e43d98c73a3cab89a45ab
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Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing

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