The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

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

På svenska

Author

  • 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.

Publishing year

2002-07-01

Language

English

Pages

9-86

Publication/Series

Cancer Genetics and Cytogenetics

Volume

136

Issue

1

Document type

Journal article

Publisher

Elsevier

Keywords

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

Status

Published

ISBN/ISSN/Other

  • ISSN: 0165-4608