title: Treatment responses of childhood aplastic anaemia with chromosomal aberrations at diagnosis.
abstract: The clinical outcome of childhood aplastic anaemia (AA) with aberrant cytogenetic clones at diagnosis was surveyed. Among 198 children with newly diagnosed AA registered with the AA Committee of the Japanese Society of Paediatric Hematology between 1994 and 1998, cytogenetic studies of bone marrow (BM) cells were completed in 159 patients. Apart from one Robertsonian translocation, seven patients (4.4%) showed clonal chromosomal abnormalities in hypoplastic BM without myelodysplastic features. The patients included six girls and one boy with a median age of 11 years (range 5-14 years). Six patients had del(6), del(5), del(13), del(20), or -7, and one showed add(9). Four patients responded to the first immunosuppressive therapy (IST: cyclosporin A plus anti-thymocyte globulin) and one obtained a spontaneous remission. Cytogenetic abnormalities remained in two patients with an IST response. On the other hand, two patients showed no IST response. One did not respond to repeat IST and died of acute graft-versus-host disease after an unrelated-BM transplant. Another obtained a complete response after a successful BM transplant. No haematological findings at diagnosis predicted the treatment response. No significant morphological changes developed during the course of the illness. A literature review revealed that half of 24 AA patients with chromosomal abnormalities responded to the first IST, and that +6 was the sole predictable marker for IST unresponsiveness. These results suggest that IST can be applied as the initial therapy for AA with cytogenetic abnormalities in the absence of completely matched donors.
authors.affiliation: Aplastic Anaemia Committee of the Japanese Society of Paediatric Haematology, Tokyo, Japan. ohgas@pediatr.med.kyushu-u.ac.jp
authors.forename: Shouichi
authors.initials: S
authors.lastname: Ohga
authors.forename: Akira
authors.initials: A
authors.lastname: Ohara
authors.forename: Shigeyoshi
authors.initials: S
authors.lastname: Hibi
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.forename: Fumio
authors.initials: F
authors.lastname: Bessho
authors.forename: Shigeru
authors.initials: S
authors.lastname: Tsuchiya
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ohshima
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Yoshida
authors.forename: Yoshifumi
authors.initials: Y
authors.lastname: Kashii
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Nishimura
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Kawakami
authors.forename: Kenichi
authors.initials: K
authors.lastname: Nishikawa
authors.forename: Ichiro
authors.initials: I
authors.lastname: Tsukimoto
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000741:Anemia, Aplastic / Q000235:genetics* / Q000628:therapy*; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D007564:Japan; D008297:Male; D008875:Middle Aged; D014182:Transplantation, Autologous; D016896:Treatment Outcome
chemical_list: D007166:Immunosuppressive Agents