Introduction: Genomic instability has been proposed to play a role in cancer development and can occur through different mechanisms including telomere association and telomere loss. Studies carried out in our unit have demonstrated that familial papillary thyroid cancer (fPTC) patients display an imbalance, at the germinal level, in telomere-telomerase complex. Aim: We aimed to verify whether familial fPTC patients show an increased spontaneous chromosome fragility. Methods: To this purpose, we compared telomeric fusions and associations as well as other chromosomal fragility features by conventional and molecular cytogenetic analyses, in phytohemagglutinin stimulated T-lymphocytes from fPTC patients, unaffected family members, sporadic papillary thyroid cancer patients, and healthy subjects. Results: We demonstrate that fPTC patients have a significant increase in spontaneous telomeric associations and telomeric fusions compared with healthy subjects and sporadic cases in the frame of an otherwise common spontaneous chromosome fragility pattern. A quantitative fluorescence in situ hybridization analysis demonstrates that familial cases display a significant decrease in the telomeric peptide nucleic acid-fluorescence in situ hybridization signal intensity in the metaphase chromosome. Moreover, three copies of the hTERT gene were found only in familial cases, although the result was not statistically significant

Telomere abnormalities and chromosome fragility in patients affected by familial papillary thyroid cancer.

FRAU, DANIELA VIRGINIA;CARIA, PAOLA;DETTORI, TINUCCIA;VANNI, ROBERTA;
2012-01-01

Abstract

Introduction: Genomic instability has been proposed to play a role in cancer development and can occur through different mechanisms including telomere association and telomere loss. Studies carried out in our unit have demonstrated that familial papillary thyroid cancer (fPTC) patients display an imbalance, at the germinal level, in telomere-telomerase complex. Aim: We aimed to verify whether familial fPTC patients show an increased spontaneous chromosome fragility. Methods: To this purpose, we compared telomeric fusions and associations as well as other chromosomal fragility features by conventional and molecular cytogenetic analyses, in phytohemagglutinin stimulated T-lymphocytes from fPTC patients, unaffected family members, sporadic papillary thyroid cancer patients, and healthy subjects. Results: We demonstrate that fPTC patients have a significant increase in spontaneous telomeric associations and telomeric fusions compared with healthy subjects and sporadic cases in the frame of an otherwise common spontaneous chromosome fragility pattern. A quantitative fluorescence in situ hybridization analysis demonstrates that familial cases display a significant decrease in the telomeric peptide nucleic acid-fluorescence in situ hybridization signal intensity in the metaphase chromosome. Moreover, three copies of the hTERT gene were found only in familial cases, although the result was not statistically significant
2012
Differentiated thyroid cancer; fluorescence in situ hybridization; familial papillary thyroid cancer; PNA-FISH, peptide nucleic acid FISH;
File in questo prodotto:
File Dimensione Formato  
12 S Cantara et al telomere.pdf

Solo gestori archivio

Dimensione 217.28 kB
Formato Adobe PDF
217.28 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
12 S Cantara et al telomere. suppl data pdf.pdf

Solo gestori archivio

Dimensione 11.61 kB
Formato Adobe PDF
11.61 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/109399
Citazioni
  • ???jsp.display-item.citation.pmc??? 11
  • Scopus 30
  • ???jsp.display-item.citation.isi??? 29
social impact