Journal Article

DKFZ-2025-01280

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png 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, Y. L. ; Göhring, G. ; Kalb, R. ; Wlodarski, M. W. ; Strahm, B. ; Erlacher, M. ; Niemeyer, C. M.DKFZ* ; Yoshimi, A.

2025
American Society of Hematology Washington, DC

Abstract: Refractory Cytopenia of Childhood (RCC) is a well-recognized type of bone marrow failure patients defined by persistent cytopenia, dysplastic changes and a unique histopathologic pattern in the bone marrow. While hematopoietic stem cell transplantation (HSCT) is generally indicated for patients with severe cytopenia or abnormal karyotype, a subset of RCC patients may be candidates for an observational approach. We evaluated the long-term outcome of RCC patients without evidence of a genetic predisposition who had a normal karyotype and had not received HSCT or immunosuppressive therapy (IST) within 2 years from diagnosis. The median age at diagnosis of the 100 patients analyzed was 10.9 (1.4-17.3) years. Eighty-four percent presented with a hypocellular bone marrow. Clonal evolution with abnormal karyotype occurred in three patients (3%), and one case progressed to myelodysplastic syndrome with excess blasts (MDS-EB). Three patients (3%) developed paroxysmal nocturnal hematuria. Overall, nine (9%) patients 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 RCC patients with a normal karyotype following an exclusion of a germline predisposition syndrome. However, persistence of cytopenia in most of these patients underscores the importance of long-term surveillance and transition to adult hematology care. NCT00047268, NCT00662090.

Note: 2025 Aug 26;9(16):4279-4285

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Contributing Institute(s):

1. DKTK Koordinierungsstelle Freiburg (FR01)

Research Program(s):

1. 899 - ohne Topic (POF4-899) (POF4-899)

Appears in the scientific report 2025

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