Unveiling the Germline Predisposition to Myeloproliferative Neoplasms

Unveiling the Germline Predisposition to Myeloproliferative Neoplasms

The classic Ph-negative myeloproliferative neoplasms (MPN) are a group of clonal hematopoietic disorders caused by a dysregulated JAK/STAT signal transduction because of acquired somatic mutations of JAK2, CALR or MPL genes. They are sporadic diseases but there are several lines of evidence that support the role of germline factors in the pathogenesis of MPN: the existence of familial clustering, the presence of more than one clone in some patients, the known existence of common polymorphisms that cause predisposition to MPN.

In this study, we would like to define the germline predisposition to MPN.

Inclusion Criteria:

• A diagnosis of PV, ET, prePMF, overt PMF or MPN-U according to 2016 WHO criteria
• Characterization of the MPN driver mutation performed at any moment before enrolment
• diagnosis of MPN made when the patient was younger than 27 years old OR at least a second case of hematologic malignancies in first or second-degree relatives

Exclusion Criteria:

• None