Since my graduation in Medicine and Specialty degree in Clinical and Laboratory Hematology, I have been interested in experimental and translation research in the field of myeloid neoplasms (MyNe). Most recent work focused on improving risk stratification and disease monitoring in MPNs. I have contributed to studies showing that prognosis can be defined more accurately when clinical variables are integrated with cytogenetic and molecular data, leading to the development and validation of models such as MIPSS70 (PMID: 29226763) and MIPSS70+v2.0 (PMID: 29708808) that are endorsed by the NCCN guidelines (https://www.nccn.org/professionals/physician_gls/pdf/mpn.pdf). These models derived from results obtained from other seminal papers to which I contributed, among the others the identification of CALR mutations (PMID: 24325359) and high molecular risk mutations (PMID: 23619563; PMID: 39873146; PMID:37846894; PMID: 35020812; PMID: 41785373); these findings are included also in the last revision of WHO and ICC classification for MyNe, therefore they have direct impact for treatment planning and transplant decision-making. In prior genome-wide association studies, I also contribute to identification of genetic variation predisposes to chronic MyNe (PMID: 41026930; PMID: 33421400; PMID: 30304655; PMID:38233595; PMID: 25849990).

Another important aspect of my research has been the study of mutation variant allele frequency as a dynamic biomarker of disease evolution and therapeutic response. In patients with polycythemia vera (PV) treated with ruxolitinib and Ropeginterferon, I contributed to show that deep and durable molecular responses are associated with a lower risk of progression to myelofibrosis (MF) and better long-term outcomes (PMID: 38841874; PMID: 38320126; PMID: 35597252; PMID: 33476571). In patients with myelofibrosis, I discovered that acquisition of somatic mutations in specific myeloid genes correlate with treatment discontinuation and dismal outcome (PMID: 32777067; PMID: 30467377; PMID: 24458439).

Overall, these works supported the novel concept that molecular response in MyNe represents a clinically

meaningful endpoint that should be incorporated into future trials and therapeutic strategies. Other studies have also demonstrated the prognostic impact of molecular profile in treatment response in acute leukemia (PMID: 37399248; PMID: 41792115; PMID: 21531982; PMID: 20823136; PMID: 29459662) demonstrating that blast-phase progression in MyNe is complex and heterogeneous, with different molecular mechanisms, thus indicating that management should be patient-oriented; other well-cited studies addressed molecular texture of chronic MyNe (PMID: 38252902; PMID: 37399248; PMID: 36710362; PMID: 35961958; PMID:35796725; PMID: 34897288; PMID: 33907189; PMID: 33349666; PMID: 31945802; PMID: 31076447; PMID: 28351937; PMID: 29296692; PMID: 25671252; PMID: 27037840; PMID: 24549259; PMID: 21921040)

I am a clinician scientist, taking care of patients with MyNe. Since 2020, I am the Head of the CRIMM center and lab at Azienda Universitaria Careggi, Florence; CRIMM provides the most up-to-date diagnostic tools for patients with acute and chronic MyNe, also serving as a supra-institutional and supra-regional referral center; it applies a quality management system compliant with ISO 9001:2015 for diagnostic and clinical trial activities. The lab performs >4,000 molecular tests annually for the diagnosis, prognostic stratification, and treatment monitoring of acute and chronic MyNe. It is also the reference laboratory for Phase I, II, and III clinical trials, including at the national level. I lead standardization programs for JAK2 testing and NGS genotyping for MyNe within GIMEMA programs. In addition, I am responsible for the outpatient clinic for familial forms of MyNe. I have large experience in Phase I to 3 clinical trials ion MyNe, serving as PI (10 trials) and co-PI (>30). My membership in the MPN Working Groups of several national and international scientific societies (GIMEMA, ELN, EHA SWG, Harmony alliance) has fostered a broad collaborative network with KOLs in the field, supporting joint research initiatives and facilitating access to patient samples and clinical datasets, including rare MPN entities. I served as PI of several grant-funded projects in MyNe (AIRC, MIUR, HNS) and served as Deputy PI of the AIRC MYNERVA project. I am also the inventor and applicant on patent submissions, currently under review, concerning innovative diagnostic approaches and novel therapeutic strategies in MyNe. My leadership extends to guideline development, including contributions to recommendations on low-risk PV management, molecular testing in MPNs, and clinical response criteria in MF. I am currently leading guideline projects on ET (ELN), PV and ET management (SIE), and the molecular diagnostic work-up of MPNs (SIES).