title: Refractory anemia in childhood: a retrospective analysis of 67 patients with particular reference to monosomy 7.
abstract: Primary myelodysplasia (MDS) without an increased number of blasts is a rare finding in childhood. We performed a retrospective analysis of 67 children with a diagnosis of primary MDS to determine the clinical and hematologic course of the disease. The median age at diagnosis was 8.3 years (range, 0.3-18.1 years). In contrast to refractory anemia in adults, 44% of patients had hemoglobin levels greater than 10 g/100 mL. The median white blood cell count and the absolute neutrophil count were 3.6 x 109/L and 0.9 x 109/L, respectively. Seventy-five percent of patients had thrombocytopenia. Bone marrow was hypocellular in 43% of the patients. Results of cytogenetic analysis showed monosomy 7 in 49%, trisomy 8 in 9%, and other abnormalities in 9% of the patients. The probability of survival 10 years after diagnosis was 0.48 (standard error [SE] = 0.10). Patients with monosomy 7 had significantly higher estimated probabilities of progression to advanced MDS than did patients with other chromosomal anomalies or normal karyotype. Of the 67 children, 41 underwent allogeneic stem cell transplantation (SCT). Patients whose disease did not progress to advanced MDS before SCT had significantly greater probability of survival than patients who experienced progression (0.76 [SE = 0.09] vs 0.36 [SE = 0.16]). SCT improved the outcomes for patients with monosomy 7 and should be offered early in the course of the disease. Recommendations for best treatment options for children with other chromosomal abnormalities or normal karyotype may have to await results of prospective clinical trials.
authors.affiliation: Division of Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Mathildenstrasse 1, 79106 Freiburg, Germany. niemeyer@kikli.ukl.uni-freiburg.de
authors.forename: Gabriela
authors.initials: G
authors.lastname: Kardos
authors.forename: Irith
authors.initials: I
authors.lastname: Baumann
authors.forename: S Jane
authors.initials: SJ
authors.lastname: Passmore
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
authors.forename: Henrik
authors.initials: H
authors.lastname: Hasle
authors.forename: Kirk R
authors.initials: KR
authors.lastname: Schultz
authors.forename: Jan
authors.initials: J
authors.lastname: Starý
authors.forename: Annette
authors.initials: A
authors.lastname: Schmitt-Graeff
authors.forename: Alexandra
authors.initials: A
authors.lastname: Fischer
authors.forename: Jochen
authors.initials: J
authors.lastname: Harbott
authors.forename: Judith M
authors.initials: JM
authors.lastname: Chessells
authors.forename: Ian
authors.initials: I
authors.lastname: Hann
authors.forename: Susanna
authors.initials: S
authors.lastname: Fenu
authors.forename: Angelo Cantú
authors.initials: AC
authors.lastname: Rajnoldi
authors.forename: Gitte
authors.initials: G
authors.lastname: Kerndrup
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Van Wering
authors.forename: Tim
authors.initials: T
authors.lastname: Rogge
authors.forename: Peter
authors.initials: P
authors.lastname: Nollke
authors.forename: Charlotte M
authors.initials: CM
authors.lastname: Niemeyer
mesh_terms: D000293:Adolescent; D000753:Anemia, Refractory / Q000235:genetics* / Q000401:mortality* / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D009503:Neutropenia / Q000235:genetics / Q000401:mortality; D011379:Prognosis; D012189:Retrospective Studies; D033581:Stem Cell Transplantation; D014314:Trisomy