Refractory anemia with ring sideroblasts associated with i(17q) and mutation of the TP53 gene.
A patient with a myelodysplastic syndrome ([MDS], i.e., refractory anemia with ring sideroblasts [RARS]) and a rapidly fatal clinical course is presented. A cytogenetic analysis showed an isochromosome 17q as a sole abnormality in all metaphases. An association between RARS and i(17q) has not been reported. Furthermore, a mutation of the remaining TP53 gene in exon 6 was evidenced by a single strand conformation polymorphism technique. This unique case illustrates heterogeneity of phenotypic expression of a stem cell disorder in MDS and indicates precaution in classifying hematologic syndromes especially when morphology is correlated with specific cytogenetic changes.
Lazarević
Vladimir
V
Institute of Hematology, Clinical Center of Serbia, Koste Todorovića 2, 11000, Belgrade, Serbia. laka@eunet.yu
Djordjević
Vesna
V
Magić
Zvonko
Z
Marisavljevic
Dragomir
D
Colović
Milica
M
D000368:Aged; D000753:Anemia, Refractory / Q000235:genetics*; D000756:Anemia, Sideroblastic / Q000235:genetics*; D007446:Chromosome Inversion; D006801:Humans; D007621:Karyotyping; D009154:Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
D016159:Tumor Suppressor Protein p53