MYELOPROLIFERATIVE NEOPLASMS IN PATIENTS YOUNGER THAN 40 YEARS: A RETROSPECTIVE ANALYSIS OF CLINICAL CHARACTERISTICS
Abstract
Introduction: Myeloproliferative neoplasms (MPN) are typically diagnosed in patients around 60 years of age; however, in clinical practice, patients < 40 years are often encountered.
Aim: Assessment of clinical-laboratory characteristics, thrombosis incidence, and therapeutic approaches in patients with MPN < 40 years.
Methods: This retrospective study included 84 patients diagnosed according to WHO criteria who were treated at the Clinic of Hematology, UCCS, from 2000 to 2024.
Results: The median age was 33 years, with a higher prevalence in females (60.7%). Polycythemia vera (PV) was found in 61.9%, essential thrombocythemia (ET) in 25%, and pre-primary myelofibrosis (prePMF) in 13.1% of participants. The JAK2V617F mutation was detected in 46.5% of patients. Microvascular symptoms were present in 27.4%, pruritus in 14.3%, constitutional symptoms in 7.1%, and splenomegaly in 45.2% of patients. The highest hemoglobin and hematocrit levels were found in PV patients (170 g/L, 50%). The platelet count was highest in patients with prePMF (1007x109/L), followed by ET (856x109/L) and PV (737.5x109/L). The distribution of bone marrow fibrosis was as follows: MF0 – 28.5%, MF1 – 54.8%, MF2 – 4.8%. Overall, 41.7% of patients had at least one cardiovascular risk factor, most commonly smoking (23.8%). The previous thrombosis occurred in 16.7% of patients, while thrombosis during follow-up (8.3%) was seen only in PV patients. Aspirin was used by 86.9% of patients, and phlebotomy was applied to almost all PV patients. Cytoreductive therapy was used in 43.9% of patients, with 39.1% receiving one line of treatment, most commonly hydroxyurea (HU). According to the ELN score, 82.1% of patients were classified as low-risk. The median follow-up was 72 months, and two patients died (2.45%).
Conclusion: The majority of younger MPN patients belong to the low-risk ELN group. However, nearly half of the patients receive cytoreductive therapy due to the development of thrombosis (25%), the presence of symptoms, the degree of thrombocytosis, and splenomegaly > 18 cm. This indicates the need for better stratification and the use of different methods for disease risk assessment, such as next-generation sequencing (NGS).
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