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Familial Philadelphia-negative myeloproliferative disorders: clinical and molecular characteristics Volume 17, issue 5, Septembre-Octobre 2011

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Authors
Groupe hospitalier Pitié-Salpêtrière, département de génétique et cytogénétique, 47-83, boulevard de l’Hôpital, 75651 Paris cedex 13, France, Institut Gustave-Roussy, unité Inserm U1009, Villejuif, France, Hôpital Saint-Antoine, service des maladies du sang et de thérapie cellulaire, Paris, France

Familial forms of myeloproliferative disorders (MPD) can be divided into two broad categories. The first includes inherited disorders resulting from a single germline defect and associated with mendelian inheritance, high penetrance and polyclonal hematopoiesis. They are the molecular basis of most of the cases of familial eryhrocytosis and thrombocytosis. The second category includes inherited predisposition to Philadelphia-negative MPD compatible with an autosomal mode of inheritance and characterized by low penetrance and clonal hematopiesis. The aim of this review was to discuss the arguments in favor of an inherited predisposition to Ph-negative MPD and to describe the clinical, hematological and molecular features of these familial MPDs. We also discuss the different approaches that have been used to search for germline defects that remain unknown yet.