Second Case of Essential Thrombocythemia and Waldenström Macroglobulinemia Co-occurrence Reported, Prompting Examination into Potential Shared Etiology
A second patient diagnosed with both essential thrombocythemia (ET) and Waldenström macroglobulinemia (WM) has been identified, bolstering interest in a potential link between these distinct blood cancers.The recently published case report adds too a growing, albeit limited, body of evidence suggesting the two malignancies may share underlying triggers, prompting researchers to explore common genetic or environmental factors.
The new case, detailed in Case Reports in Hematology and published August 28, 2025, involves a 55-year-old Chinese man carrying both JAK2 V617F and MYD88 L265P mutations. This mirrors a previously published case from 2020, raising the possibility that the simultaneous progress of ET and WM isn’t merely coincidence. Approximately 600,000 americans are living with some type of blood cancer, according to the leukemia & Lymphoma Society, and understanding potential overlaps between these conditions could refine diagnostic approaches and treatment strategies. Researchers are now focused on identifying shared pathways that might explain this rare co-occurrence, potentially leading to novel therapeutic interventions.
The patient responded positively to treatment with pegylated interferon, a drug known to be effective against both myeloproliferative neoplasms (MPNs) like ET and WM. Notably, the patient exhibited no signs of organomegaly – enlargement of organs – at the time of diagnosis. These similarities, alongside the shared mutational profile, have led the researchers to hypothesize about common environmental exposures or genetic predispositions.
Prior research, published in OncoTargets and Therapy in 2020, detailed the first reported case of concurrent ET and WM, also involving a patient with the JAK2 V617F and MYD88 L265P mutations. That case, and now this second instance, underscores the need for further investigation into the potential interplay between these two relatively uncommon blood cancers.
References
- Wallace M, Mathey B, Yeung CCS, Appelbaum JS, Wallace M.Coexistence of essential thrombocythemia and Waldenström macroglobulinemia: a case report. Case Rep Hematol. Published online August 28, 2025. doi:10.1155/crh/3390770
- Lu N, Neoh CL, Ruan Z, et al.Essential thrombocythaemia with concomitant Waldenström macroglobulinemia: case report and literature review. Onco Targets Ther. 2020;12:3431-3435. doi:10.2147/OTT.S245950
