Germline SH2B3 pathogenic variant associated with myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis

Am J Hematol. 2019 Sep;94(9):E231-E234. doi: 10.1002/ajh.25552. Epub 2019 Jun 14.

Authors

Giacomo Coltro¹, Terra L Lasho¹, Christy M Finke¹, Naseema Gangat¹, Animesh Pardanani¹, Ayalew Tefferi¹, Dragan Jevremovic², Jessica K Altman³, Mrinal M Patnaik¹

Affiliations

¹ Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota.
² Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
³ Division of Hematology, Northwestern University, Chicago, Illinois.

PMID: 31173385
DOI: 10.1002/ajh.25552

No abstract available

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Adaptor Proteins, Signal Transducing / metabolism
Germ-Line Mutation*
Hematologic Neoplasms / drug therapy
Hematologic Neoplasms / genetics*
Hematologic Neoplasms / metabolism
Hematologic Neoplasms / pathology
Humans
Male
Middle Aged
Myelodysplastic-Myeloproliferative Diseases / drug therapy
Myelodysplastic-Myeloproliferative Diseases / genetics*
Myelodysplastic-Myeloproliferative Diseases / metabolism
Myelodysplastic-Myeloproliferative Diseases / pathology
Neoplasm Proteins / genetics*
Neoplasm Proteins / metabolism

Substances

Adaptor Proteins, Signal Transducing
Neoplasm Proteins
SH2B3 protein, human

Grants and funding