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Back to Biology: New Insights on Inheritance in Myeloproliferative Disorders

  • Myeloproliferative Disorders (C Harrison, Section Editor)
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Abstract

The myeloproliferative disorders (MPDs) are a group of hematologic diseases with significant overlap in both clinical phenotype and genetic etiology. While most often caused by acquired somatic mutations in hematopoietic stem cells, the presence of familial clustering in MPD cases suggests that inheritance is an important factor in the etiology of this disease. Though far less common than sporadic disease, inherited MPDs can be clinically indistinguishable from sporadic disease. Recently, germline mutations in Janus kinase 2 (JAK2) and MPL, two genes frequently mutated in sporadic MPD, have been shown to cause inherited thrombocytosis. Study of the function of these mutant proteins has led to a new understanding of the biological mechanisms that produce myeloproliferative disease. In this review, we summarize the data regarding inherited mutations that cause or predispose to MPDs, with a focus on the biological effects of mutant proteins. We propose that defining inherited MPDs in this manner has the potential to simplify diagnosis in a group of disorders that can be difficult to differentiate clinically.

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Conflict of Interest

Dr. Evan M. Braunstein is supported by NIH grant #K12HL087169.

Dr. Alison R. Moliterno reports personal fees from Incyte Inc.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. Division of Hematology, Department of Medicine, School of Medicine, Johns Hopkins University, 720 Rutland Ave., Ross Research Building Room 1025, Baltimore, MD, 21205, USA

    Evan M. Braunstein

  2. Division of Hematology, Department of Medicine, School of Medicine, Johns Hopkins University, 720 Rutland Ave., Traylor Research Building Room 912, Baltimore, MD, 21205, USA

    Alison R. Moliterno

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  1. Evan M. Braunstein
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Correspondence to Alison R. Moliterno.

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Braunstein, E.M., Moliterno, A.R. Back to Biology: New Insights on Inheritance in Myeloproliferative Disorders. Curr Hematol Malig Rep 9, 311–318 (2014). https://doi.org/10.1007/s11899-014-0232-3

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