Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system

Abstract

Clinical, morphologic, and cytogenetic features were examined in a group of 68 children with myelodysplasia (MDS) referred to a single institution between 1971–1991. The morphologic French-American-British (FAB) system of classification proved of limited value in this group of patients because 50% of the cases were categorized as chronic myelomonocytic leukemia and three patients with eosinophilia and MDS were unclassifiable. Cytogenetic analysis was performed in 63 cases and clonal abnormalities were detected in 55%; the most common chromosome involved was number 7. Modification of the FAB system to incorporate additional diagnostic features such as pretreatment fetal hemoglobin (Hb F) and cytogenetics allowed incorporation of the categories of juvenile chronic myeloid leukemia (JCML) and infantile monosomy 7 syndrome (IMo7). The resulting groups of patients had highly significant differences in survival (P = .00009). The overall 5-year survival for the patients was 31.9% (95% CI 21.7 to 44.1) and factors influencing prognosis included: modified FAB type, platelet count, Hb F level, and cytogenetic complexity. We developed a scoring system (“FPC”) where each of the following findings at diagnosis scored one point: HbF greater than 10%, platelets < or = 40 x 10(9)/L, and complex karyotypic changes (two or more clonal structural/numerical abnormalities), which produced groups with highly significant differences, patients with a score of 0 having a 5-year survival of 61.6% (CI 33% to 84%), whereas those with a score of two or three all died within 4 years of diagnosis. The revised classification and scoring system may prove helpful in making treatment choices in pediatric MDS and now needs to be tested prospectively in large scale population-based studies.

Haematological abnormalities in Shwachman‐Diamond syndrome

“…The frequency of clonal cytogenetic abnormalities at diagnosis in our series of all paediatric MDS cases collected over a similar time scale (Passmore et al, 1995) was 55% with a further 5% developing clonal abnormalities later in the course of their disease. Overall, 25% transformed to AML.…”

“…Linear growth followed unique centiles below the third percentile and final heights were always below the third percentile. Eight of the patients presented here have been reported, in part, previously (Aggett et al, 1980;Woods et al, 1981b;Passmore et al, 1995;Smith et al, 1995).…”

“…A cytogenetic result was obtained in 12/13 patients (three reported in Passmore et al, 1995, andone in Smith et al, 1995). Of these, four had clonal abnormalities at diagnosis (33%) and a fifth developed a clone later in the myelodysplastic phase of his disease (overall 42%).…”

Hyperdiploid karyotype in a childhood MDS patient

“…Because of the relative rarity of MDS in children, the cytogenetic ®ndings reported in childhood MDS are limited compared to those reported in adults. Cytogenetic changes were reported in 55±70% of paediatric MDS cases (Hayashi et al, 1988;Passmore et al, 1995); the commonest abnormalities being monosomy 7 or del(7q), followed by trisomy 8 (Gadner et al, 1992;Brader-Meunnier et al, 1996;Passmore et al, 1995). However, other chromosomal changes have been reported (Shikano et al, 1992;Raimondi et al, 2000).…”

Association Between Juvenile Myelomonocytic Leukemia, Juvenile Xanthogranulomas and Neurofibromatosis Type 1: Case Report and Review of the Literature

“…Morphologic evaluation of a peripheral blood smear is the most important step in establishing the diagnosis (10). Immature monocytes, along with myelocytes, metamyelocytes, and erythroblasts, are usually found (11)(12)(13)(14). An absolute monocyte count greater than 1 9 10 9 /L is required for diagnosis.…”