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

Drexler B, Schwarz-Furlan S, Baumann I, Rudelius M, Nöllke P, Lebrecht D, Ramamoorthy S, Rotari N, Karow A, Hirabayashi S, Beier F, Behrens YL, Göhring G, Kalb R, Wlodarski MW, Strahm B, Erlacher M, Niemeyer CM, Yoshimi A (2025)

Publication Type: Journal article

Publication year: 2025

Journal

Blood Advances American Society of Hematology

Book Volume: 9

Pages Range: 4279-4285

Journal Issue: 16

DOI: 10.1182/bloodadvances.2025016136

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.

Authors with CRIS profile

Axel Karow Department of Paediatrics and Adolescent Medicine

Involved external institutions

Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen DE Germany (DE) Medizinische Hochschule Hannover (MHH) / Hannover Medical School DE Germany (DE) Julius-Maximilians-Universität Würzburg DE Germany (DE) Universitätsklinikum Freiburg DE Germany (DE) Kliniken Ostallgäu-Kaufbeuren Anstalt des öffentlichen Rechts Buchloe - Füssen - Kaufbeuren DE Germany (DE) Ludwig-Maximilians-Universität (LMU) DE Germany (DE) Hokkaido University (Hokudai) / 北海道大学 JP Japan (JP)

How to cite

APA:

Drexler, B., Schwarz-Furlan, S., Baumann, I., Rudelius, M., Nöllke, P., Lebrecht, D.,... Yoshimi, A. (2025). Long-term outcomes of patients with refractory cytopenia of childhood under observation only. Blood Advances, 9(16), 4279-4285. https://doi.org/10.1182/bloodadvances.2025016136

MLA:

Drexler, Beatrice, et al. "Long-term outcomes of patients with refractory cytopenia of childhood under observation only." Blood Advances 9.16 (2025): 4279-4285.

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