Features, reason for testing, and changes with time of 583 paroxysmal nocturnal hemoglobinuria clones from 529 patients: a multicenter Italian study
Autor: | Luisa Ferrari, Laura Vanelli, Anna Triolo, Antonio Regazzoli, Francesco Buccisano, Paola Omedè, Maria Matilde Ciriello, M Arras, Feliciano Visconte, Cinzia Armentano Conte, Rachele Amodeo, Giovanni Poletti, Francesco Lanza, Maria Cristina Pavanelli, Chiara Bartocci, Donatella Tanca, F. Rubba, Clorinda De Rosa, Anna Marfia, Elisa Boscaro, Anna Mestice, Virginia Catinella, Arianna Gatti, Bianca Maria Oliva, Massimo Geuna, Elisabetta Tedone, Elisa Cannizzo, Maria Stefania De Propris, Fiorella D'Auria, Maddalena Raia, Simone Cesaro, Anna Maria Santonocito, Angela Michelutti, Barbara Scarpati, Teodora Statuto, Francesca Ulbar, Catia Lo Pardo, Graziano Pianezze, Bruno Brando, Roberto Caporale, Pellegrino Musto, Laura Del Pup, Luigi Del Vecchio, Virginia Ottaviano, Giorgia Pantano, Alessandra Stacchini |
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Rok vydání: | 2019 |
Předmět: |
Male
Hemolytic anemia medicine.medical_specialty Paroxysmal Hemoglobinuria Paroxysmal Myelodysplastic syndromes Clone (cell biology) Hemoglobinuria NO 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases Internal medicine Aplastic anemia Atypical thrombosis Flow cytometry Paroxysmal nocturnal hemoglobinuria Age Factors Female Follow-Up Studies Humans Italy Practice Guidelines as Topic Flow Cytometry medicine Hematology business.industry Bone marrow failure General Medicine medicine.disease 030220 oncology & carcinogenesis Immunology business Settore MED/15 - Malattie del Sangue 030215 immunology |
Zdroj: | Annals of Hematology. 98:1083-1093 |
ISSN: | 1432-0584 0939-5555 |
Popis: | In this study, we aimed at disclosing the main features of paroxysmal nocturnal hemoglobinuria (PNH) clones, their association with presentation syndromes, and their changes during follow-up. A large-scale, cooperative collection (583 clones from 529 patients) of flow cytometric and clinical data was entered into a national repository. Reason for testing guidelines were provided to the 41 participating laboratories, which followed the 2010 technical recommendations for PNH testing by Borowitz. Subsequently, the 30 second-level laboratories adopted the 2012 guidelines for high-resolution PNH testing, both upon order by the local clinicians and as an independent laboratory initiative in selected cases. Type3 and Type2 PNH clones (total and partial absence of glycosyl-phosphatidyl-inositol-anchor, respectively) were simultaneously present in 54 patients. In these patients, Type3 component was sevenfold larger than Type2 (p 0.001). Frequency distribution analysis of solitary Type3 clone size (N = 442) evidenced two discrete patterns: small (20% of peripheral neutrophils) and large ( 70%) clones. The first pattern was significantly associated with bone marrow failure and myelodysplastic syndromes, the second one with hemolysis, hemoglobinuria, and thrombosis. Pediatric patients (N = 34) showed significant preponderance of small clones and bone marrow failure. The majority of PNH clones involved neutrophils, monocytes, and erythrocytes. Nevertheless, we found clones made exclusively by white cells (N = 13) or erythrocytes (N = 3). Rare cases showed clonal white cells restricted only to monocytes (6 cases) or neutrophils (3 cases). Retesting over 1-year follow-up in 151 cases showed a marked clone size increase in 4 cases and a decrease in 13, demonstrating that early breaking-down of PNH clones is not a rare event (8.6% of cases). This collaborative nationwide study demonstrates a clear-cut difference in size between Type2 and Type3 clones, emphasizes the existence of just two classes of PNH presentations based on Type3 clone size, depicts an asymmetric cellular composition of PNH clones, and documents the possible occurrence of changes in clone size during the follow-up. |
Databáze: | OpenAIRE |
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