DNA sequence copy number changes in gastrointestinal stromal tumors: Tumor progression and prognostic significance

Wael El-Rifai, M. Sarlomo-Rikala, L. C. Andersson, S. Knuutila, M. Miettinen

Research output: Contribution to journalArticle

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Abstract

To identify genetic changes related to tumor progression and find out diagnostic and prognostic genetic markers in gastrointestinal stromal tumors (GISTs), 95 tumor samples (24 benign GISTs, 36 malignant primary GISTs, and 35 GIST-metastases) from 60 patients were studied using comparative genomic hybridization. DNA copy number changes were detected in all samples. Benign GISTs had a mean of 2.6 aberrations/sample (losses:gains, 5:1) and significantly fewer DNA copy number changes and fewer gains than malignant primary and metastatic GISTs (P < 0.01). High-level amplifications were not seen in benign GISTs. Malignant primary GISTs had a mean of 7.5 aberrations/tumor (losses: gains, 1.6:1), whereas the mean number of aberrations/metastatic GIST was 9 (losses:gains, 1.8:1). Frequent changes observed in all GIST groups included losses in chromosome arms 1p (51%), 14q (74%), and 22q (53%). Gains and high-level amplifications at 8q and 17q were significantly more frequent in metastatic GISTs (57 and 43%) than in benign GISTs (8 and 0%; P < 0.001) and malignant primary GISTs (33 and 25%; P < 0.05). Gains and high-level amplifications at 20q were only seen in malignant primary and metastatic GISTs (P < 0.01), and gains at 5p were not detected in benign GISTs (P < 0.01). Losses in chromosome arm 9p were never seen in benign tumors (P < 0.001), and they were more frequent in metastatic GISTs than in malignant primary GISTs (63 and 36%; P < 0.05). Losses in 13q were less frequent in benign GISTs than in malignant primary (P < 0.05) and metastatic (P < 0.01) GISTs. Our results show that several DNA copy number changes are related to the behavior of GISTs and can be used as prognostic markers for tumor progression.

Original languageEnglish (US)
Pages (from-to)3899-3903
Number of pages5
JournalCancer Research
Volume60
Issue number14
StatePublished - Jul 15 2000
Externally publishedYes

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DNA Copy Number Variations
Gastrointestinal Stromal Tumors
Neoplasms
Chromosomes

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

El-Rifai, W., Sarlomo-Rikala, M., Andersson, L. C., Knuutila, S., & Miettinen, M. (2000). DNA sequence copy number changes in gastrointestinal stromal tumors: Tumor progression and prognostic significance. Cancer Research, 60(14), 3899-3903.

DNA sequence copy number changes in gastrointestinal stromal tumors : Tumor progression and prognostic significance. / El-Rifai, Wael; Sarlomo-Rikala, M.; Andersson, L. C.; Knuutila, S.; Miettinen, M.

In: Cancer Research, Vol. 60, No. 14, 15.07.2000, p. 3899-3903.

Research output: Contribution to journalArticle

El-Rifai, W, Sarlomo-Rikala, M, Andersson, LC, Knuutila, S & Miettinen, M 2000, 'DNA sequence copy number changes in gastrointestinal stromal tumors: Tumor progression and prognostic significance', Cancer Research, vol. 60, no. 14, pp. 3899-3903.
El-Rifai, Wael ; Sarlomo-Rikala, M. ; Andersson, L. C. ; Knuutila, S. ; Miettinen, M. / DNA sequence copy number changes in gastrointestinal stromal tumors : Tumor progression and prognostic significance. In: Cancer Research. 2000 ; Vol. 60, No. 14. pp. 3899-3903.
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abstract = "To identify genetic changes related to tumor progression and find out diagnostic and prognostic genetic markers in gastrointestinal stromal tumors (GISTs), 95 tumor samples (24 benign GISTs, 36 malignant primary GISTs, and 35 GIST-metastases) from 60 patients were studied using comparative genomic hybridization. DNA copy number changes were detected in all samples. Benign GISTs had a mean of 2.6 aberrations/sample (losses:gains, 5:1) and significantly fewer DNA copy number changes and fewer gains than malignant primary and metastatic GISTs (P < 0.01). High-level amplifications were not seen in benign GISTs. Malignant primary GISTs had a mean of 7.5 aberrations/tumor (losses: gains, 1.6:1), whereas the mean number of aberrations/metastatic GIST was 9 (losses:gains, 1.8:1). Frequent changes observed in all GIST groups included losses in chromosome arms 1p (51{\%}), 14q (74{\%}), and 22q (53{\%}). Gains and high-level amplifications at 8q and 17q were significantly more frequent in metastatic GISTs (57 and 43{\%}) than in benign GISTs (8 and 0{\%}; P < 0.001) and malignant primary GISTs (33 and 25{\%}; P < 0.05). Gains and high-level amplifications at 20q were only seen in malignant primary and metastatic GISTs (P < 0.01), and gains at 5p were not detected in benign GISTs (P < 0.01). Losses in chromosome arm 9p were never seen in benign tumors (P < 0.001), and they were more frequent in metastatic GISTs than in malignant primary GISTs (63 and 36{\%}; P < 0.05). Losses in 13q were less frequent in benign GISTs than in malignant primary (P < 0.05) and metastatic (P < 0.01) GISTs. Our results show that several DNA copy number changes are related to the behavior of GISTs and can be used as prognostic markers for tumor progression.",
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