Non‐myeloablative umbilical cord blood transplantation for atypical dyskeratosis congenita

Background Short telomere syndrome (STS) in children may result in phenotypically heterogenous clinical spectrum ranging from completely asymptomatic to typical dyskeratosis congenita (DC). Patients with this cancer predisposition syndrome may have multiple organ dysfunctions including pulmonary fib...

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Bibliographic Details
Published in:Pediatric transplantation 2022-03, Vol.26 (2), p.e14157-n/a
Main Authors: Gibson, Amber, Ragoonanan, Dristhi, Tewari, Priti, Petropoulos, Demetrios, Rodriguez, Nidra, DiNardo, Courtney, Mahadeo, Kris M., Khazal, Sajad
Format: Article
Language:English
Subjects:
Aging
Alemtuzumab - administration & dosage
Antineoplastic Agents - administration & dosage
Bone marrow
Case reports
Child, Preschool
Cirrhosis
Cord blood
Cord Blood Stem Cell Transplantation
cord blood transplantation
Cyclophosphamide
Cyclophosphamide - administration & dosage
Dyskeratosis
Dyskeratosis Congenita - genetics
Dyskeratosis Congenita - therapy
Female
Fibrosis
Fludarabine
Germ-Line Mutation
Humans
Liver cirrhosis
Lung diseases
marrow failure
Mismatch repair
Mismatch Repair Endonuclease PMS2
Missense mutation
Monoclonal antibodies
Mutation
Patients
Radiation
short telomere
Telomerase
Telomeres
Transplantation
Transplants & implants
Umbilical cord
Vidarabine - administration & dosage
Vidarabine - analogs & derivatives
Whole-Body Irradiation
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Summary:Background Short telomere syndrome (STS) in children may result in phenotypically heterogenous clinical spectrum ranging from completely asymptomatic to typical dyskeratosis congenita (DC). Patients with this cancer predisposition syndrome may have multiple organ dysfunctions including pulmonary fibrosis, liver cirrhosis, and bone marrow failure. Not all mutations in telomerase or telomere genes have been identified, and STS may pose a diagnostic and management challenge. Methods A retrospective chart review and literature search were done for this report. Results Here, we report a case of atypical DC with a heterozygous germline missense mutation in the postmeiotic segregation increased 2 (PMS2) gene, exon 5, (c.466A>G (p. Thr156Ala)). The PMS2 (a mismatch repair protein) gene is known to be an important mediator of telomere‐induced aging. The patient was transfusion dependent and underwent successful umbilical cord blood transplant using a non‐myeloablative regimen with alemtuzumab, fludarabine, cyclophosphamide, and total body irradiation. Conclusion In this case of atypical DC with a previously unreported germline missense mutation in PMS2, the patient was successfully treated with an umbilical cord blood transplant with a non‐myeloablative regimen.
ISSN:1397-3142
1399-3046
DOI:10.1111/petr.14157