Sensitivity to radiation and alkylating agent of peripheral lymphocytes and fibroblasts in a Hoyeraal-Hreidarsson syndrome patient.
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.
M'kacher
Radhia
R
Service de Pédiatrie, Centre Hospitalier Universitaire de Besancon, Bescancon, France. mkacher@igr.fr
Laithier
Veronique
V
Valent
Alexandre
A
Delhommeau
Francois
F
Violot
Dominique
D
Deutsch
Eric
E
Dossou
Julien
J
Béron-Gaillard
Nadine
N
Girinsky
Theodore
T
Bourhis
Jean
J
Carde
Patrice
P
Bernheim
Alain
A
Parmentier
Claude
C
D000015:Abnormalities, Multiple / Q000188:drug therapy / Q000235:genetics* / Q000532:radiotherapy; D000477:Alkylating Agents / Q000494:pharmacology*; D002470:Cell Survival / Q000187:drug effects / Q000528:radiation effects; D002648:Child; D041321:Chromosomes, Human, X; D005347:Fibroblasts / Q000187:drug effects / Q000528:radiation effects*; D008040:Genetic Linkage; D006801:Humans; D008214:Lymphocytes / Q000187:drug effects / Q000528:radiation effects*; D008297:Male; D011836:Radiation Tolerance; D013577:Syndrome
D000477:Alkylating Agents