title: Expansion of trisomy 8 and Sweet syndrome in a prolonged course of aplastic anemia.
abstract: We describe a 17-year-old boy with aplastic anemia who had Sweet syndrome develop with increasing expansion of trisomy 8. The diagnosis of aplastic anemia was made at 6 years of age. Cytopenias partially responded to danazol therapy. Cytogenetic studies of bone marrow (BM) cells were normal until the detection of trisomy 8 at 14 years of age. This clone increased with the progression of cytopenias. Cell sorting and fluorescence in situ hybridization analysis revealed that trisomy 8 was present only in nonlymphoid elements. When the patient was 17 years of age, Sweet syndrome developed. BM study showed myelodysplastic features, in which trisomy 8 occupied 74% of BM cells with additional chromosomal changes. Trisomy 8 may contribute to the late transformation of myeloid lineages in BM failure.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. ohgas@pediatr.med.kyushu-u.ac.jp
authors.forename: Shouichi
authors.initials: S
authors.lastname: Ohga
authors.forename: Akihiko
authors.initials: A
authors.lastname: Nomura
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Takada
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Terao
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D000293:Adolescent; D000741:Anemia, Aplastic / Q000209:etiology* / Q000235:genetics; D016026:Bone Marrow Transplantation; D002898:Chromosomes, Human, Pair 8; D018450:Disease Progression; D006801:Humans; D008297:Male; D016463:Sweet Syndrome / Q000150:complications / Q000235:genetics*; D013997:Time Factors; D016896:Treatment Outcome; D019680:Trinucleotide Repeat Expansion; D014314:Trisomy