Unveiling the Germline Predisposition to Myeloproliferative Neoplasms

N/ARecruitingNCT07204392

Fondazione IRCCS Policlinico San Matteo di Pavia313 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

313

Conditions

Myeloproliferative Disease Germline Mutation

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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

Locations (1)

Outcomes

Primary Outcomes

To identify a germline predisposition to MPN through the application of an NGS-based gene panel test in young patients.

Time frame: 3 years

To identify the germline genetic factors that underlie familial clustering of MPN through whole genome sequencing (WGS).

Time frame: 3 years

Secondary Outcomes

To identify phenotype-genotype correlations: we aim to correlate the molecular data with clinical data and relevant outcomes

Time frame: 3 years

Unveiling the Germline Predisposition to Myeloproliferative Neoplasms

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts