Clinical heterogeneity and outcome of acquired PRCA: a multicenter European study
Year: 2026
Type: article
Study design: Observational Study
Abstract: ABSTRACT: Pure red cell aplasia (PRCA) is a rare single-lineage bone marrow (BM) failure characterized by anemia with profound reticulocytopenia and severe reduction of erythroid precursors. PRCA is heterogeneous, and diagnosis requires extensive evaluation to distinguish primary from secondary causes, such as thymoma, autoimmune diseases, T-cell large granular lymphocyte expansion, and myelodysplastic syndrome (MDS), the differential diagnosis of which is particularly challenging. Evidence guiding management remains limited because of the rarity of the disease and the lack of prospective studies. We analyzed 121 acquired adult PRCA (excluding Parvovirus B19-associated PRCA) cases across 14 European centers. Secondary forms accounted for 78% of diagnoses, mostly thymoma (23%) or MDS (21%). In a subset of patients, BM immunohistochemistry demonstrated significant depositions of C3, C4d, immunoglobulin M (IgM), and IgG, reducing after immunosuppression. Next-generation sequencing was performed in half of the patients, 36% of whom presented mutations predominantly related to clonal hematopoiesis, except in MDS-associated cases, which often carried multiple non-clonal hematopoiesis mutations. Immunosuppression represented the backbone of therapy: cyclosporine A (CyA) was the most effective agent, with 61% overall response rate (47% complete) and better outcomes when initiated earlier; mammalian target of rapamycin inhibitors (mTORi) showed promising activity as second-line therapy, with responses in 71% of the patients, including CyA-refractory cases. Mortality reached 30%, predominantly because of infectious complications, and was significantly higher in MDS-associated cases. PRCA remains a diagnostically challenging and clinically heterogeneous disorder in which integration of molecular analyses may refine diagnostic accuracy and patient stratification. Immunosuppression remains the mainstay of treatment, with CyA being a reliable first-line treatment and mTORi emerging as encouraging rescue options.
Source: Blood Advances
Authors: Francesco Versino, Marc Michel, Jennifer Vidler, Salvador Payán-Pernía, Roochi Trikha, Shreyans Gandhi, Sukanya Gogoi, Manujasri Wimalachandra, Omar Racchi, Maria Teresa Lupo-Stanghellini, Sabrina Giammarco, Maria Marina Arguello, Mara Memoli, Andreas Glenthøj, Gabriele Merati, Yamuna Wasanthi Wickramasinghe, Aparna Chitharanjan, Mylene Hemmer, Mariasanta Napolitano, Margarita Jiménez-Jambrina, Filippo Achille Brioschi, Antonio Palma-Vallelano, Tomas Jose Gonzalez-Lopez, Cristina Clissa, Marta Bortolotti, Giacinto Luca Pedone, Giorgio Alberto Croci, Francesco Passamonti, Wilma Barcellini, Austin Kulasekararaj, Bruno Fattizzo
Institutions: University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Centre Hospitalier Universitaire Henri-Mondor, Hôpitaux Universitaires Henri-Mondor, King's College Hospital NHS Foundation Trust, King's College Hospital, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Ospedale Villa Scassi, IRCCS Ospedale San Raffaele, Agostino Gemelli University Polyclinic, University of Naples Federico II, Copenhagen University Hospital, Alessandro Manzoni Hospital, Ospedale Vincenzo Cervello, University of Palermo, Azienda Ospedaliera San Gerardo, Hospital Juan Ramón Jiménez, Hospital Universitario de Burgos, University of Verona
Language: English
Subfield: Emergency Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,800
Funder: Ministero della Salute
OpenAlex ID: W7162547758
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