Successful allogeneic stem cell transplantation of a patient with Werner syndrome and acute myeloid leukemia

Fiegle, Eva; Crysandt, Martina; Bouillon, Anne-Sophie; Silling, Gerda; Elbracht, Miriam; Begemann, Matthias; Brümmendorf, Tim H.; Beier, Fabian; Jost, Edgar

doi:10.1016/j.leukres.2021.106609

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2022

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“…A 44year-old male patient with MDS underwent CBT and obtained a 15-month survival period, during which time he had MDS remission and no treatment-related toxicity (15). Allogeneic hematopoietic cell transplantation (HCT) may be feasible for Werner syndrome-related AML, and an 18-year-old female patient with AML obtained a 5-year survival after HCT without severe chemotherapy or transplant-induced toxicities (16). Anemia is one of the major concerns in MDS patients.…”

Section: Discussionmentioning

confidence: 99%

Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome

et al. 2022

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Werner syndrome is an autosomal recessive rare disease caused by a WRN gene mutation, which is rarely reported in the Chinese population. We report the clinical and genetic data of a Chinese patient with Werner syndrome. The proband was a 40-year-old male patient who presented with diabetic foot ulcers, accompanied by short stature, cataracts, hypogonadism, and hair thinning, and myelodysplastic syndrome (MDS) occurred after 18 months. Genetic sequencing showed there were compound heterozygous mutations as c.3384-1G>C and c.3744dupA in the WRN gene. The c.3744dupA mutation is a novel pathogenic variation for Werner syndrome.

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Section: Discussionmentioning

confidence: 99%