Hyperdiploid karyotype in a childhood MDS patient

Abstract

We present a rare case of a paediatric myelodysplastic syndrome (MDS) with congenital anomalies (frontal bossing and premature closure of anterior fontanelle). The case showed the clinical and biological features of a refractory anaemia excess blasts (RAEB). Bone marrow (BM) cytogenetics demonstrated a hyperdiploid karyotype, with several numerical abnormalities and unidentified rearrangements. Fluorescence in situ hybridization (FISH) using chromosome specific alpha-satellite and whole chromosome-specific painting probes verified the hyperdiploid karyotype, and confirmed the origin of the unknown markers and rearrangements more reliably than would be possible using conventional cytogenetic techniques.

Hyperdiploid karyotype in a child with hypocellular primary myelodysplastic syndrome

“…Hyperdiploidy (>70 chromosomes) is a cytogenetic hallmark of anaplastic tumours, and in combination with complex translocations can identify patients at high risk of treatment failure (16). In the cases described by Acar et al (5) and Culligan et al. (6) the hyperdiploid karyotype had structural abnormalities and was presented in >60% of metaphases analysed.…”

“…In childhood MDS, Acar et al. described the first case of hyperdiploid karyotype in a patient (6‐month‐old boy) who had congenital anomalies, hypercellular bone marrow and classified as refractory anaemia with excess of blasts (RAEB) (5). Hyperdiploid karyotype in MDS was also described in a young woman (27‐year old) with hypercellular bone marrow (6).…”