Refractory anemia with ring sideroblasts associated with i(17q) and mutation of the TP53 gene

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Abstract

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.

Detaljer

Författare
Externa organisationer
  • Clinical Center of Serbia
Forskningsområden

Nyckelord

Originalspråkengelska
Sidor (från-till)86-9
Antal sidor4
TidskriftCancer Genetics and Cytogenetics
Volym136
Utgåva nummer1
StatusPublished - 2002 jul 1
PublikationskategoriForskning
Peer review utfördJa
Externt publiceradJa