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

LAZAREVIC, VLADIMIR LU ; Djordjević, Vesna; Magić, Zvonko; Marisavljevic, Dragomir and Colović, Milica (2002) In Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00 136(1). p.9-86
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.

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author
publishing date
type
Contribution to journal
publication status
published
keywords
Aged, Anemia, Refractory, Anemia, Sideroblastic, Chromosome Inversion, Humans, Karyotyping, Mutation, Reverse Transcriptase Polymerase Chain Reaction, Tumor Suppressor Protein p53
in
Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00
volume
136
issue
1
pages
4 pages
publisher
Elsevier
external identifiers
  • Scopus:0036649147
ISSN
0165-4608
language
English
LU publication?
no
id
628a86b7-420d-461b-9e78-bb75046bd0a5
date added to LUP
2016-05-24 17:24:52
date last changed
2017-01-01 08:26:58
@article{628a86b7-420d-461b-9e78-bb75046bd0a5,
  abstract     = {<p>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.</p>},
  author       = {LAZAREVIC, VLADIMIR and Djordjević, Vesna and Magić, Zvonko and Marisavljevic, Dragomir and Colović, Milica},
  issn         = {0165-4608},
  keyword      = {Aged,Anemia, Refractory,Anemia, Sideroblastic,Chromosome Inversion,Humans,Karyotyping,Mutation,Reverse Transcriptase Polymerase Chain Reaction,Tumor Suppressor Protein p53},
  language     = {eng},
  month        = {07},
  number       = {1},
  pages        = {9--86},
  publisher    = {Elsevier},
  series       = {Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00},
  title        = {Refractory anemia with ring sideroblasts associated with i(17q) and mutation of the TP53 gene},
  volume       = {136},
  year         = {2002},
}