Concurrent Presentation of Pure Red Cell Aplasia and Myeloproliferative Neoplasm, Unclassifiable With JAK2 and MPL Mutations.

Pure red cell aplasia (PRCA) is a rare hematologic disorder characterized by normocytic anemia and severe reticulocytopenia. The co-occurrence of PRCA and myeloproliferative neoplasm (MPN) with JAK2 and MPL mutations is exceptionally rare. This case involves a patient who initially presented with anemia and thrombocytosis. Following a diagnosis of PRCA, the treatment with immunosuppressive therapy effectively increased her hemoglobin levels. Genetic testing revealed the presence of JAK2 V617F and MPL W515L mutations. The bone marrow biopsy results indicated MPN-U, followed by a subsequent biopsy revealing myelofibrosis secondary to MPN-U. Subsequently, ruxolitinib was administered. This case highlights the significance of pathological examination and genetic mutation testing in achieving precise differential diagnoses in MPNs. Additionally, it demonstrates effective management strategies for patients diagnosed with PRCA and MPN with JAK2 and MPL mutations. The use of ruxolitinib and cyclosporin A has been shown to be beneficial for such patients. And the use of ruxolitinib decreases the dosage of cyclosporin A, indicating that ruxolitinib may have a therapeutic effect on PRCA.