Long-term outcomes of patients with refractory cytopenia of childhood under observation only

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.

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Journal
Blood Advances
Published
2025-06-24
DOI
https://doi.org/10.1182/bloodadvances.2025016136
Primary Topic
Acute Myeloid Leukemia Research
Type
article
Field-Weighted Citation Impact
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article

Long-term outcomes of patients with refractory cytopenia of childhood under observation only

Reinhard Kalb, Axel Karow, Miriam Erlacher, Marcin W. Włodarski et al.
Blood Advances
Acute Myeloid Leukemia Research
article

Long-term outcomes of patients with refractory cytopenia of childhood under observation only

Reinhard Kalb, Axel Karow, Miriam Erlacher, Marcin W. Włodarski, Yvonne Lisa Behrens, Stephan Schwarz‐Furlan, Brigitte Strahm, Senthilkumar Ramamoorthy, Dirk Lebrecht, Peter Noellke, Shinsuke Hirabayashi, Ayami Yoshimi, Fabian Beier, Gudrun Göhring, Natalia Rotari, Irith Baumann, Beatrice Drexler, Martina Rudelius, Charlotte M. Niemeyer
article en

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.

Blood AdvancesVol. 9(16)
Hokkaido University of Science (JP), St. Jude Children's Research Hospital (US), University of Freiburg (DE), Friedrich-Alexander-Universität Erlangen-Nürnberg (DE), Universität Ulm (DE), Sapporo University (JP), Hokkaido University (JP), University of Würzburg (DE), University Medical Center Freiburg (DE), University Hospital of Basel (CH), Medizinische Hochschule Hannover (DE), Sensor-Technik Wiedemann (Germany) (DE), Westfälische Hochschule (DE), Amedes Genetics (Germany) (DE), Comprehensive Cancer Center Erlangen (DE), University Hospital Ulm (DE), Ludwig-Maximilians-Universität München (DE)
Bundesministerium für Bildung und Forschung, Albert-Ludwigs-Universität Freiburg, Deutschen Konsortium für Translationale Krebsforschung
Good health and well-being
Openalex Percentile: Top 81%
Acute Myeloid Leukemia Research
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