Germline Mutation, Myeloproliferative Disease
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
Fondazione IRCCS Policlinico San Matteo di Pavia
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To identify a germline predisposition to MPN through the application of an NGS-based gene panel test in young patients. | 3 years |
| To identify the germline genetic factors that underlie familial clustering of MPN through whole genome sequencing (WGS). | 3 years |
Secondary
| Measure | Time frame |
|---|---|
| To identify phenotype-genotype correlations: we aim to correlate the molecular data with clinical data and relevant outcomes | 3 years |
Countries
Italy
Contacts
Primary ContactElisa Rumi
Outcome results
None listed