Sensitivity to radiation and alkylating agent of peripheral lymphocytes and fibroblasts in a Hoyeraal-Hreidarsson syndrome patient.

Abstract

Hoyeraal-Hreidarsson syndrome (HHS) is a severe infantile variant of X-linked dyskeratosis congenita (DC). The authors report evidence of increased in vitro sensitivity to radiation and alkylating agent in circulating lymphocytes and fibroblasts obtained from a 7-year-old boy with HHS. A major telomere shortening was also found (3 kb) as compared to healthy donors (10 kb). The standard treatments, chemotherapy regimens, and radiation therapy were not possible. The data suggest that conditioning regimens including TBI should not be used when a bone marrow transplantation procedure is planned in these patients.

• Authors: Radhia M'kacher, Veronique Laithier, Alexandre Valent, Francois Delhommeau, Dominique Violot, Eric Deutsch, Julien Dossou, Nadine Béron-Gaillard, Theodore Girinsky, Jean Bourhis, Patrice Carde, Alain Bernheim, Claude Parmentier
• Journal: Pediatric hematology and oncology (Pediatr Hematol Oncol) Vol. 20 Issue 8 Pg. 651-6 (Dec 2003) ISSN: 0888-0018 [Print] England
• PMID: 14578036 (Publication Type: Case Reports, Journal Article)

Chemical References

• Alkylating Agents

Topics

• Abnormalities, Multiple (drug therapy, genetics, radiotherapy)
• Alkylating Agents (pharmacology)
• Cell Survival (drug effects, radiation effects)
• Child
• Chromosomes, Human, X
• Fibroblasts (drug effects, radiation effects)
• Genetic Linkage
• Humans
• Lymphocytes (drug effects, radiation effects)
• Male
• Radiation Tolerance
• Syndrome