Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorFondazione IRCCS Policlinico San Matteo di Pavia
About this trial
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.
Eligibility criteria
Qualifiers
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
Disqualifiers
None
Trial design
Treatments tested in this trial
- Not listed
Trial groups
No trial groups listed
Sponsors and collaborators
Source ClinicalTrials.gov