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

In English

Författare

  • VLADIMIR LAZAREVIC
  • Vesna Djordjević
  • Zvonko Magić
  • Dragomir Marisavljevic
  • Milica Colović

Summary, in English

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.

Publiceringsår

2002-07-01

Språk

Engelska

Sidor

9-86

Publikation/Tidskrift/Serie

Cancer Genetics and Cytogenetics

Volym

136

Issue

1

Dokumenttyp

Artikel i tidskrift

Förlag

Elsevier

Nyckelord

  • Aged
  • Anemia, Refractory
  • Anemia, Sideroblastic
  • Chromosome Inversion
  • Humans
  • Karyotyping
  • Mutation
  • Reverse Transcriptase Polymerase Chain Reaction
  • Tumor Suppressor Protein p53

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 0165-4608