Chronic myeloid neoplasms harboring concomitant mutations in myeloproliferative neoplasm driver genes (JAK2/MPL/CALR) and SF3B1

JAK2, CALR, and MPL are myeloproliferative neoplasm (MPN)-driver mutations, whereas SF3B1 is strongly associated with ring sideroblasts (RS) in myelodysplastic syndrome (MDS). Concomitant mutations of SF3B1 and MPN-driver mutations out of the context of MDS/MPN with RS and thrombocytosis (MDS/MPN-RS...

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Veröffentlicht in:	Modern pathology 2021-01, Vol.34 (1), p.20-31
Hauptverfasser:	Ok, Chi Young, Trowell, Kevin T., Parker, Kyle G., Moser, Karen, Weinberg, Olga K., Rogers, Heesun J., Reichard, Kaaren K., George, Tracy I., Hsi, Eric D., Bueso-Ramos, Carlos E., Tam, Wayne, Orazi, Attilio, Bagg, Adam, Arber, Daniel A., Hasserjian, Robert P., Wang, Sa A.
Format:	Artikel
Sprache:	eng
Schlagworte:	45/23 631/67/1990 631/67/1990/2331 631/67/68 Adult Aged Aged, 80 and over Autosomal dominant inheritance Calreticulin - genetics Cytogenetics Dysplasia Female Humans Janus kinase 2 Janus Kinase 2 - genetics Laboratory Medicine Male Medicine Medicine & Public Health Middle Aged Mutation Myelodysplastic syndrome Myelodysplastic syndromes Myelodysplastic-Myeloproliferative Diseases - genetics Myelofibrosis Neutropenia Pathology Phenotypes Phosphoproteins - genetics Receptors, Thrombopoietin - genetics RNA Splicing Factors - genetics Sideroblasts Splenomegaly Thrombocytosis Tumors
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Zusammenfassung:	JAK2, CALR, and MPL are myeloproliferative neoplasm (MPN)-driver mutations, whereas SF3B1 is strongly associated with ring sideroblasts (RS) in myelodysplastic syndrome (MDS). Concomitant mutations of SF3B1 and MPN-driver mutations out of the context of MDS/MPN with RS and thrombocytosis (MDS/MPN-RS-T) are not well-studied. From the cases (
ISSN:	0893-3952 1530-0285
DOI:	10.1038/s41379-020-0624-y