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EHA 2026 | Rare driver mutations could refine diagnosis and management of myeloproliferative neoplasms
Gonzalo Carreño Gómez-Tarragona, MD, PhD, 12 de Octubre University Hospital, Madrid, Spain, discusses preliminary results from the ELN MPN-OLIVETTI study, exploring rare JAK2, CALR, and MPL variants and how improved genetic characterization may refine diagnosis, prognosis, and management of patients with myeloproliferative neoplasms. This interview took place at the 31st Congress of the European Hematology Association (EHA) in Stockholm, Sweden.
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Transcript
Well, so we encounter since the establishment of NGS for diagnosis of MPNs with several rare mutations in JAK2, CALR and MPL that we are actually not able to fully characterize their functionality and the clinical characteristics of those patients. So we don’t know how we have to treat these patients, whether those variants are pathogenic or are benign. So the aim of the MPN-velocity study is to gather patients and mutations from all over the world and then characterize their clinical characteristics and the function of those variants...
Well, so we encounter since the establishment of NGS for diagnosis of MPNs with several rare mutations in JAK2, CALR and MPL that we are actually not able to fully characterize their functionality and the clinical characteristics of those patients. So we don’t know how we have to treat these patients, whether those variants are pathogenic or are benign. So the aim of the MPN-velocity study is to gather patients and mutations from all over the world and then characterize their clinical characteristics and the function of those variants. So, so far we have gathered more than 200 patients and 150 different variants. So what we know now is that most of these variants seem to be germline. Most of them, or at least half of them, probably are benign. And we know that those patients with this kind of mutations do better than patients with the classic canonical variants. So we are quite optimistic about getting more collaborators and improving our knowledge in this kind of disease.
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