Studies inherited genetic factors that may predispose people to myeloproliferative neoplasms
Observes genetic inheritance in adults with myeloproliferative neoplasms, a group of blood disorders.
Plain-language title generated from the registry record
Registry title: Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
Key facts
- Where
- Pavia, ItalySee the site
Where in Italy
- Fondazione IRCCS Policlinico San MatteoPavia, ItalyTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Fondazione IRCCS Policlinico San Matteo di Pavia
- Trial code
- NCT07204392
- Record updated
- 2 October 2025
- Original description
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.Read full original descriptionShow less
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: 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: None.