Study to Identify Genetic Factors Contributing to Myeloproliferative Neoplasms in Adults

What this Trial Is About

The trial investigates the germline genetic factors that may predispose individuals to classic Philadelphia chromosome-negative myeloproliferative neoplasms MPN, a group of blood disorders caused by abnormal JAKSTAT signaling due to acquired mutations. Researchers aim to better understand how inherited genetic variations contribute to the development of these diseases, including familial clustering and multiple clones in some patients. This observational study is sponsored by Fondazione IRCCS Policlinico San Matteo di Pavia. Participants with diagnosed MPN, such as polycythemia vera, essential thrombocythemia, pre-primary myelofibrosis, overt primary myelofibrosis, or unclassifiable MPN, will be observed. The study will apply next-generation sequencing NGS gene panel tests and whole genome sequencing WGS to identify germline predisposition and genetic factors underlying familial cases. The research will also correlate molecular findings with clinical profiles and patient outcomes over a three-year period. Throughout the study, participants will have their genetic data analyzed and linked with their clinical information. No treatment is administered, as this is an observational study focusing on genetic and clinical data collection. The main outcomes include identifying germline predispositions to MPN and understanding genotype-phenotype relationships. The study will last approximately three years, with continuous data monitoring and analysis during this period.

Unveiling the Germline Predisposition to Myeloproliferative Neoplasms