Faculty Collaboration Database

Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. J Pediatr Hematol Oncol 2006 Jul;28(7):450-3

Date

07/11/2006

Pubmed ID

16825992

DOI

10.1097/01.mph.0000212952.58597.84

Scopus ID

2-s2.0-33746374390 (requires institutional sign-in at Scopus site)   25 Citations

Abstract

Mutations in TERC, the RNA component of telomerase, result in autosomal dominant dyskeratosis congenita (DC), a rare bone marrow failure syndrome. TERC mutations have been detected in a subset of patients previously diagnosed with aplastic anemia and myelodysplastic syndrome (MDS), and these TERC mutations are clinically relevant as patients with DC respond poorly to conventional therapies. We aimed to determine the frequency of TERC mutations in pediatric patients with aplastic anemia and MDS who required a hematopoietic stem cell transplant. We obtained 284 blood samples from the National Donor Marrow Program Research Sample Repository from children and adolescents with bone marrow failure who underwent an unrelated stem cell transplant. We screened these samples for mutations in the TERC gene using direct DNA sequencing. We found 2 patients with sequence alterations in TERC. We identified a 2 base pair deletion (-240delCT) in a 4-year-old child with MDS and a single nucleotide alteration (-99-->CG) in a 1-year-old child with juvenile myelomonocytic leukemia. Screening for TERC gene mutations is unlikely to diagnose occult DC in children with severe bone marrow failure who require a hematopoietic stem cell transplant.

Author List

Field JJ, Mason PJ, An P, Kasai Y, McLellan M, Jaeger S, Barnes YJ, King AA, Bessler M, Wilson DB

Author

Joshua J. Field MD Professor in the Medicine department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adolescent
Anemia, Aplastic
Child
Child, Preschool
Cross-Sectional Studies
DNA Mutational Analysis
Dyskeratosis Congenita
Female
Gene Frequency
Genetic Testing
Genetic Variation
Hematopoietic Stem Cell Transplantation
Humans
Infant
Leukemia, Myelomonocytic, Chronic
Male
Myelodysplastic Syndromes
Point Mutation
RNA
Telomerase
Transplantation, Homologous