Case report: Cytopenias in VEXAS syndrome - a WHO 2022 based approach in a single-center cohort
VEXAS syndrome is an acquired autoinflammatory disease characterized in most cases by cytopenias and macrocytic anemia. Dyshematopoiesis is a frequent finding in chronic inflammatory conditions and therefore, cytopenias are not easily classified in VEXAS patients. Here we report a series of 7 patien...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-01-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2024.1354130/full |
| _version_ | 1797347152261808128 |
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| author | Elisa Diral Corrado Campochiaro Corrado Campochiaro Alessandro Tomelleri Alessandro Tomelleri Gregorio M. Bergonzi Gregorio M. Bergonzi Umberto Pizzano Umberto Pizzano Maurilio Ponzoni Maurilio Ponzoni Lucia Bongiovanni Lucia Bongiovanni Paola Ronchi Cristina Tresoldi Silvia Rigamonti Federico Scarfò Federico Scarfò Gloria M. Latino Emma Rinaldi Massimo Bernardi Lorenzo Dagna Lorenzo Dagna Fabio Ciceri Fabio Ciceri |
| author_facet | Elisa Diral Corrado Campochiaro Corrado Campochiaro Alessandro Tomelleri Alessandro Tomelleri Gregorio M. Bergonzi Gregorio M. Bergonzi Umberto Pizzano Umberto Pizzano Maurilio Ponzoni Maurilio Ponzoni Lucia Bongiovanni Lucia Bongiovanni Paola Ronchi Cristina Tresoldi Silvia Rigamonti Federico Scarfò Federico Scarfò Gloria M. Latino Emma Rinaldi Massimo Bernardi Lorenzo Dagna Lorenzo Dagna Fabio Ciceri Fabio Ciceri |
| author_sort | Elisa Diral |
| collection | DOAJ |
| description | VEXAS syndrome is an acquired autoinflammatory disease characterized in most cases by cytopenias and macrocytic anemia. Dyshematopoiesis is a frequent finding in chronic inflammatory conditions and therefore, cytopenias are not easily classified in VEXAS patients. Here we report a series of 7 patients affected by VEXAS associated cytopenias, treated at our center. The use of NGS, together with morphological assays, integrated with the WHO 2022 criteria, allowed to identify three subsets of VEXAS associated cytopenias: ICUS (idiopathic cytopenia of uncertain significance), CCUS (clonal cytopenia of uncertain significance) at high risk of clonal evolution, and MDS. This approach could help to better understand the nature of VEXAS associated cytopenias and to guide the use of specific targeted treatments in order to achieve long lasting responses. |
| first_indexed | 2024-03-08T11:43:32Z |
| format | Article |
| id | doaj.art-81b163f856f2468ba4cce34336fc3afe |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-03-08T11:43:32Z |
| publishDate | 2024-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-81b163f856f2468ba4cce34336fc3afe2024-01-25T04:38:10ZengFrontiers Media S.A.Frontiers in Immunology1664-32242024-01-011510.3389/fimmu.2024.13541301354130Case report: Cytopenias in VEXAS syndrome - a WHO 2022 based approach in a single-center cohortElisa Diral0Corrado Campochiaro1Corrado Campochiaro2Alessandro Tomelleri3Alessandro Tomelleri4Gregorio M. Bergonzi5Gregorio M. Bergonzi6Umberto Pizzano7Umberto Pizzano8Maurilio Ponzoni9Maurilio Ponzoni10Lucia Bongiovanni11Lucia Bongiovanni12Paola Ronchi13Cristina Tresoldi14Silvia Rigamonti15Federico Scarfò16Federico Scarfò17Gloria M. Latino18Emma Rinaldi19Massimo Bernardi20Lorenzo Dagna21Lorenzo Dagna22Fabio Ciceri23Fabio Ciceri24Unit of Hematology, IRCCS San Raffaele Scientific Institute, Milan, ItalyUnit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Scientific Institute, Milan, ItalySchool of Medicine, Vita-Salute San Raffaele University, Milan, ItalyUnit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Scientific Institute, Milan, ItalySchool of Medicine, Vita-Salute San Raffaele University, Milan, ItalyUnit of Hematology, IRCCS San Raffaele Scientific Institute, Milan, ItalySchool of Medicine, Vita-Salute San Raffaele University, Milan, ItalyUnit of Hematology, IRCCS San Raffaele Scientific Institute, Milan, ItalySchool of Medicine, Vita-Salute San Raffaele University, Milan, ItalySchool of Medicine, Vita-Salute San Raffaele University, Milan, ItalyPathology Unit, IRCCS San Raffaele Scientific Institute, Milan, ItalySchool of Medicine, Vita-Salute San Raffaele University, Milan, ItalyPathology Unit, IRCCS San Raffaele Scientific Institute, Milan, ItalyUnit of Immunohaematology and Transfusion Medicine, IRCCS San Raffaele Scientific Institute, Milan, ItalyUnit of Immunohaematology and Transfusion Medicine, IRCCS San Raffaele Scientific Institute, Milan, ItalyUnit of Immunohaematology and Transfusion Medicine, IRCCS San Raffaele Scientific Institute, Milan, ItalySchool of Medicine, Vita-Salute San Raffaele University, Milan, ItalyPathology Unit, IRCCS San Raffaele Scientific Institute, Milan, ItalySchool of Medicine, Vita-Salute San Raffaele University, Milan, ItalySchool of Medicine, Vita-Salute San Raffaele University, Milan, ItalyUnit of Hematology, IRCCS San Raffaele Scientific Institute, Milan, ItalyUnit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Scientific Institute, Milan, ItalySchool of Medicine, Vita-Salute San Raffaele University, Milan, ItalyUnit of Hematology, IRCCS San Raffaele Scientific Institute, Milan, ItalySchool of Medicine, Vita-Salute San Raffaele University, Milan, ItalyVEXAS syndrome is an acquired autoinflammatory disease characterized in most cases by cytopenias and macrocytic anemia. Dyshematopoiesis is a frequent finding in chronic inflammatory conditions and therefore, cytopenias are not easily classified in VEXAS patients. Here we report a series of 7 patients affected by VEXAS associated cytopenias, treated at our center. The use of NGS, together with morphological assays, integrated with the WHO 2022 criteria, allowed to identify three subsets of VEXAS associated cytopenias: ICUS (idiopathic cytopenia of uncertain significance), CCUS (clonal cytopenia of uncertain significance) at high risk of clonal evolution, and MDS. This approach could help to better understand the nature of VEXAS associated cytopenias and to guide the use of specific targeted treatments in order to achieve long lasting responses.https://www.frontiersin.org/articles/10.3389/fimmu.2024.1354130/fullmyelodysplastic neoplasms (MDS)VEXAS syndromenext generating sequencingazacytidineruxolitinibvacuoles |
| spellingShingle | Elisa Diral Corrado Campochiaro Corrado Campochiaro Alessandro Tomelleri Alessandro Tomelleri Gregorio M. Bergonzi Gregorio M. Bergonzi Umberto Pizzano Umberto Pizzano Maurilio Ponzoni Maurilio Ponzoni Lucia Bongiovanni Lucia Bongiovanni Paola Ronchi Cristina Tresoldi Silvia Rigamonti Federico Scarfò Federico Scarfò Gloria M. Latino Emma Rinaldi Massimo Bernardi Lorenzo Dagna Lorenzo Dagna Fabio Ciceri Fabio Ciceri Case report: Cytopenias in VEXAS syndrome - a WHO 2022 based approach in a single-center cohort Frontiers in Immunology myelodysplastic neoplasms (MDS) VEXAS syndrome next generating sequencing azacytidine ruxolitinib vacuoles |
| title | Case report: Cytopenias in VEXAS syndrome - a WHO 2022 based approach in a single-center cohort |
| title_full | Case report: Cytopenias in VEXAS syndrome - a WHO 2022 based approach in a single-center cohort |
| title_fullStr | Case report: Cytopenias in VEXAS syndrome - a WHO 2022 based approach in a single-center cohort |
| title_full_unstemmed | Case report: Cytopenias in VEXAS syndrome - a WHO 2022 based approach in a single-center cohort |
| title_short | Case report: Cytopenias in VEXAS syndrome - a WHO 2022 based approach in a single-center cohort |
| title_sort | case report cytopenias in vexas syndrome a who 2022 based approach in a single center cohort |
| topic | myelodysplastic neoplasms (MDS) VEXAS syndrome next generating sequencing azacytidine ruxolitinib vacuoles |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2024.1354130/full |
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