Long-term outcomes of patients with refractory cytopenia of childhood under observation only
Abstract: Refractory cytopenia of childhood (RCC) describes an entity of well-recognized bone marrow failure defined by persistent cytopenia, dysplastic changes, and a unique histopathological pattern in the bone marrow. Although hematopoietic stem cell transplantation (HSCT) is generally indicated...
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Elsevier
2025-08-01
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| Series: | Blood Advances |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2473952925003490 |
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| author | Beatrice Drexler Stephan Schwarz-Furlan Irith Baumann Martina Rudelius Peter Nöllke Dirk Lebrecht Senthilkumar Ramamoorthy Natalia Rotari Axel Karow Shinsuke Hirabayashi Fabian Beier Yvonne Lisa Behrens Gudrun Göhring Reinhard Kalb Marcin W. Wlodarski Brigitte Strahm Miriam Erlacher Charlotte M. Niemeyer Ayami Yoshimi |
| author_facet | Beatrice Drexler Stephan Schwarz-Furlan Irith Baumann Martina Rudelius Peter Nöllke Dirk Lebrecht Senthilkumar Ramamoorthy Natalia Rotari Axel Karow Shinsuke Hirabayashi Fabian Beier Yvonne Lisa Behrens Gudrun Göhring Reinhard Kalb Marcin W. Wlodarski Brigitte Strahm Miriam Erlacher Charlotte M. Niemeyer Ayami Yoshimi |
| author_sort | Beatrice Drexler |
| collection | DOAJ |
| description | Abstract: Refractory cytopenia of childhood (RCC) describes an entity of well-recognized bone marrow failure defined by persistent cytopenia, dysplastic changes, and a unique histopathological pattern in the bone marrow. Although hematopoietic stem cell transplantation (HSCT) is generally indicated for patients with severe cytopenia or abnormal karyotype, a subset of patients with RCC may be candidates for an observational approach. We evaluated the long-term outcome of patients with RCC without evidence of a genetic predisposition who had a normal karyotype and had not received HSCT or immunosuppressive therapy within 2 years from diagnosis. The median age at diagnosis of the 100 patients analyzed was 10.9 years (range 1.4-17.3); 84% presented with a hypocellular bone marrow. Clonal evolution with abnormal karyotype occurred in 3 patients (3%), and 1 case progressed to myelodysplastic syndrome with excess blasts. Three patients (3%) developed paroxysmal nocturnal hematuria. Overall, 9 patients (9%) received HSCT, and the 5- and 10-year HSCT-free survival was 94% and 88%, respectively. At last follow-up, all patients were alive with a median follow-up time of 7.2 years. These results indicate that an observational approach is safe for selected patients with RCC with a normal karyotype after an exclusion of a germ line predisposition syndrome. However, persistence of cytopenia in most of these patients underscores the importance of long-term surveillance and transition to adult hematology care. This trial was registered at www.clinicaltrials.gov as #NCT00047268 and #NCT00662090. |
| format | Article |
| id | doaj-art-ab417daf5a104a1e82756944906e27d2 |
| institution | Kabale University |
| issn | 2473-9529 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Blood Advances |
| spelling | doaj-art-ab417daf5a104a1e82756944906e27d22025-08-20T05:07:22ZengElsevierBlood Advances2473-95292025-08-019164279428510.1182/bloodadvances.2025016136Long-term outcomes of patients with refractory cytopenia of childhood under observation onlyBeatrice Drexler0Stephan Schwarz-Furlan1Irith Baumann2Martina Rudelius3Peter Nöllke4Dirk Lebrecht5Senthilkumar Ramamoorthy6Natalia Rotari7Axel Karow8Shinsuke Hirabayashi9Fabian Beier10Yvonne Lisa Behrens11Gudrun Göhring12Reinhard Kalb13Marcin W. Wlodarski14Brigitte Strahm15Miriam Erlacher16Charlotte M. Niemeyer17Ayami Yoshimi18Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Division of Hematology, University Hospital Basel, Basel, SwitzerlandInstitute of Pathology, Klinikum Kaufbeuren-Ravensburg, Kaufbeuren, GermanyInstitute of Pathology, Klinikum Kaufbeuren-Ravensburg, Kaufbeuren, GermanyInstitute of Pathology, Ludwig-Maximilians-Universität of Munich, Munich, GermanyDepartment of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, GermanyDepartment of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, GermanyDepartment of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Faculty of Medicine, Institute of Medical Bioinformatics and Systems Medicine, University Medical Center Freiburg, Freiburg, GermanyDepartment of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, GermanyDepartment of Pediatrics and Adolescent Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN, Erlangen, GermanyDepartment of Pediatrics, University of Hokkaido, Sapporo, JapanDepartment of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, Rheinisch-Westfälische Technische Hochschule Aachen University, Aachen, GermanyDepartment of Human Genetics, Hannover Medical School, Hannover, GermanyDepartment of Human Genetics, Hannover Medical School, Hannover, GermanyDepartment of Human Genetics, University of Würzburg Biocenter, Würzburg, GermanyDepartment of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TNDepartment of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, GermanyDepartment of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, GermanyDepartment of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; German Cancer Consortium, Partner Site Freiburg, a partnership between Deutsche Krebsforschungszentrum and University Medical Center Freiburg, Freiburg, GermanyDepartment of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Correspondence: Ayami Yoshimi, Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Breisacherstrasse 62, 79106 Freiburg, Germany;Abstract: Refractory cytopenia of childhood (RCC) describes an entity of well-recognized bone marrow failure defined by persistent cytopenia, dysplastic changes, and a unique histopathological pattern in the bone marrow. Although hematopoietic stem cell transplantation (HSCT) is generally indicated for patients with severe cytopenia or abnormal karyotype, a subset of patients with RCC may be candidates for an observational approach. We evaluated the long-term outcome of patients with RCC without evidence of a genetic predisposition who had a normal karyotype and had not received HSCT or immunosuppressive therapy within 2 years from diagnosis. The median age at diagnosis of the 100 patients analyzed was 10.9 years (range 1.4-17.3); 84% presented with a hypocellular bone marrow. Clonal evolution with abnormal karyotype occurred in 3 patients (3%), and 1 case progressed to myelodysplastic syndrome with excess blasts. Three patients (3%) developed paroxysmal nocturnal hematuria. Overall, 9 patients (9%) received HSCT, and the 5- and 10-year HSCT-free survival was 94% and 88%, respectively. At last follow-up, all patients were alive with a median follow-up time of 7.2 years. These results indicate that an observational approach is safe for selected patients with RCC with a normal karyotype after an exclusion of a germ line predisposition syndrome. However, persistence of cytopenia in most of these patients underscores the importance of long-term surveillance and transition to adult hematology care. This trial was registered at www.clinicaltrials.gov as #NCT00047268 and #NCT00662090.http://www.sciencedirect.com/science/article/pii/S2473952925003490 |
| spellingShingle | Beatrice Drexler Stephan Schwarz-Furlan Irith Baumann Martina Rudelius Peter Nöllke Dirk Lebrecht Senthilkumar Ramamoorthy Natalia Rotari Axel Karow Shinsuke Hirabayashi Fabian Beier Yvonne Lisa Behrens Gudrun Göhring Reinhard Kalb Marcin W. Wlodarski Brigitte Strahm Miriam Erlacher Charlotte M. Niemeyer Ayami Yoshimi Long-term outcomes of patients with refractory cytopenia of childhood under observation only Blood Advances |
| title | Long-term outcomes of patients with refractory cytopenia of childhood under observation only |
| title_full | Long-term outcomes of patients with refractory cytopenia of childhood under observation only |
| title_fullStr | Long-term outcomes of patients with refractory cytopenia of childhood under observation only |
| title_full_unstemmed | Long-term outcomes of patients with refractory cytopenia of childhood under observation only |
| title_short | Long-term outcomes of patients with refractory cytopenia of childhood under observation only |
| title_sort | long term outcomes of patients with refractory cytopenia of childhood under observation only |
| url | http://www.sciencedirect.com/science/article/pii/S2473952925003490 |
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