Outcomes of Dyskeratosis Congenita: Results From the Canadian Inherited Marrow Failure Registry.
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INTRODUCTION: The clinical course, outcome, risk of malignancy, and causes of mortality in the pediatric dyskeratosis congenita (DC) population have been described in a few studies. METHODS: Data of patients with DC enrolled in the Canadian Inherited Marrow Failure Registry (CIMFR) between January 2001 and December 2021 were analyzed. RESULTS: Forty-three patients with DC were diagnosed at a median age of 9 years. The underlying mutated genes included DKC1, PARN, RTEL1, TERC, TERT , and TINF2 . Nine patients developed severe bone marrow failure (BMF). Presence of severe BMF was associated with a higher risk of mortality (HR: 7.5). Patients with DC who were diagnosed at a younger age had lower overall survival. No pediatric patients developed malignancy. Eleven patients received a hematopoietic stem cell transplant. Ten patients died due to organ dysfunction, mostly related to DC. All 5 TINF2 patients died, but no patients died in the TERT, TERC , or RTEL1 groups. CONCLUSIONS: Pediatric patients with DC have a high mortality rate related to BMF and organ dysfunction, but malignancy is uncommon in this age group. Earlier age at diagnosis and presence of severe BMF could be risk factors for mortality. Patients with the TINF2 genotype tend to have a worse outcome than patients with RTEL1, TERC , and TERT .