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Hematopoietic cell ...
Hematopoietic cell transplantation for telomere biology diseases: A retrospective single-center cohort study
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Nichele, S. (author)
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Bonfim, C. (author)
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Luiz, G. D. (author)
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Loth, G. (author)
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Kuwahara, C. (author)
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Trennephol, J. (author)
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Funke, V. A. M. (author)
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Marinho, D. E. (author)
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Koliski, A. (author)
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Rodrigues, A. M. (author)
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Mousquer, R. T. G. (author)
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- Fasth, Anders, 1945 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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Lima, A. C. M. (author)
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Calado, R. T. (author)
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Pasquini, R. (author)
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(creator_code:org_t)
- 2023
- 2023
- English.
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In: European Journal of Haematology. - 0902-4441. ; 111:3, s. 423-31
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
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- Background: Telomere biology diseases (TBD) result from defective telomere maintenance, leading to bone marrow failure. The only curative treatment for aplastic anemia related to TBD is a hematopoietic cell transplant (HCT). Although reduced-intensity conditioning (RIC) regimens decrease transplant-related mortality, non-hematological phenotypes represent a major challenge and are associated with poor long-term follow-up outcomes.Objective: To describe the outcome of TBD patients transplanted for marrow failure.Study Design: This is a retrospective, single-center study describing the outcomes of 32 consecutive transplants on 29 patients between 1993 and 2019.Results: The median age at transplantation was 14 years (range, 3-30 years). Most patients received a RIC regimen (n = 28) and bone marrow (BM) from an unrelated donor (n = 16). Four patients received a haploidentical transplant. Chimerism was available for 27 patients with a median time to neutrophil recovery of 20 days (13-36 days). Primary graft failure occurred in one patient, whereas second graft failure occurred in two. Acute GVHD grade II-IV and moderate to severe chronic GVHD occurred in 22% of patients at risk. Fourteen patients were alive after HCT at the last follow-up (median, 6 years; 1.4-19 years). The 5-year overall survival was better after matched sibling donor (MSD) transplantation compared to other hematopoietic stem cell sources (88.9% vs. 47.7%; p = .05; CI = 95%). Overall, 15 patients died after HCT, most of them (n = 11) after the first year of transplant, due to non-hematological disease progression or complication of chronic GVHD.Conclusions: Hematopoietic cell transplantation is a potentially curative treatment option for TBD, nonetheless the poor outcome reflects the progression of non-hematologic disease manifestations, which should be considered when transplantation is indicated.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
Keyword
- dyskeratosis congenita
- hematopoietic cell transplant
- telomere biology
- disease
- telomeres
- bone-marrow-transplantation
- versus-host-disease
- dyskeratosis-congenita
- mixed chimerism
- failure
- length
- cyclophosphamide
- complications
- mutations
- regimen
- Hematology
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Nichele, S.
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Bonfim, C.
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Luiz, G. D.
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Loth, G.
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Kuwahara, C.
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Trennephol, J.
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show more...
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Funke, V. A. M.
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Marinho, D. E.
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Koliski, A.
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Rodrigues, A. M.
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Mousquer, R. T. ...
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Fasth, Anders, 1 ...
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Lima, A. C. M.
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Calado, R. T.
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Pasquini, R.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Hematology
- Articles in the publication
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European Journal ...
- By the university
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University of Gothenburg