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Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms

Leukemia. 2020 Sep;34(9):2519-2524. doi: 10.1038/s41375-020-0752-x. Epub 2020 Feb 14.

Authors

Emma C DiFilippo¹, Giacomo Coltro², Ryan M Carr², Abhishek A Mangaonkar², Moritz Binder², Shakila P Khan³, Vilmarie Rodriguez³, Naseema Gangat², Alexandra Wolanskyj², Rajiv K Pruthi², Dong Chen⁴, Rong He⁴, David S Viswanatha⁴, Terra Lasho², Christy Finke², Ayalew Tefferi², Animesh Pardanani², Mrinal M Patnaik⁵

Affiliations

¹ Mayo Clinic Alix School of Medicine, Rochester, MN, USA.
² Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN, USA.
³ Division of Pediatric Hematology, Mayo Clinic, Rochester, MN, USA.
⁴ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
⁵ Division of Pediatric Hematology, Mayo Clinic, Rochester, MN, USA. patnaik.mrinal@mayo.edu.

PMID: 32060405
DOI: 10.1038/s41375-020-0752-x

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Child
Child, Preschool
Comparative Genomic Hybridization
Core Binding Factor Alpha 2 Subunit / genetics*
Female
Germ-Line Mutation*
Humans
Infant
Male
Middle Aged
Myelodysplastic-Myeloproliferative Diseases / genetics*

Substances

Core Binding Factor Alpha 2 Subunit
RUNX1 protein, human