Refractory anemia with ring sideroblasts associated with i(17q) and mutation of the TP53 gene
(2002) In Cancer Genetics and Cytogenetics 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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https://lup.lub.lu.se/record/628a86b7-420d-461b-9e78-bb75046bd0a5
- author
- LAZAREVIC, VLADIMIR LU ; Djordjević, Vesna ; Magić, Zvonko ; Marisavljevic, Dragomir and Colović, Milica
- publishing date
- 2002-07-01
- 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 Cytogenetics
- volume
- 136
- issue
- 1
- pages
- 4 pages
- publisher
- Elsevier
- external identifiers
-
- pmid:12165459
- 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
- 2024-08-18 03:05:42
@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}}, keywords = {{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 Cytogenetics}}, title = {{Refractory anemia with ring sideroblasts associated with i(17q) and mutation of the TP53 gene}}, volume = {{136}}, year = {{2002}}, }