Myeloproliferative neoplasms in the young: unique disease patterns and therapeutic strategies

10-20% of myeloproliferative neoplasms (MPNs) are diagnosed in adolescent and young adult (AYA) patients. This review aims to summarize current literature on AYA MPN, to highlight unique clinico-pathological patterns, specific treatment paradigms and areas for further research.

Epidemiological data highlights the female predominance in AYA MPN, reflective of the higher burden of essential thrombocythemia (ET) within this population. Fatigue is common and can be severe but is frequently overlooked within the healthcare setting. Compared to older MPN, cytopenias are less common and CALR mutations are frequently encountered. Interferon is the preferred first-line agent in AYA MPN and holds potential for disease modification. Clinicians should be mindful of the unique challenges facing AYA patients including professional demands, family planning, pregnancy and psychological health when assessing and counselling patients with MPN.

AYA MPN patients have unique clinico-pathological characteristics that alter their disease presentation, thrombo-haemorrhagic risks and kinetics of progression. Further research should focus on developing AYA-specific risk stratification models, the impact of nondriver somatic mutations, and therapies with potential for disease modification.