| Autor: |
Palomba, Grazia, Paliogiannis, Panagiotis, Sini, Maria C., Colombino, Maria, Casula, Milena, Manca, Antonella, Pisano, Marina, Sotgiu, Giovanni, Doneddu, Valentina, Palmieri, Giuseppe, Cossu, Antonio |
| Zdroj: |
European Journal of Cancer Prevention: The Official Journal of the European Cancer Prevention Organisation (ECP); January 2021, Vol. 30 Issue: 1 p53-58, 6p |
| Abstrakt: |
Supplemental Digital Content is available in the text.Gastrointestinal stromal tumor (GIST) is the most common mesenchymal malignancy of the gastrointestinal tract. We provide in the present article the molecular characterization of a series of primary GISTs in a cohort of Sardinian patients (Italy), with the aim to describe the patterns of KITand PDGFRamutations and the corresponding clinical features. Ninety-nine Sardinian patients with histologically-proven diagnosis of GIST were included in the study. Medical records and pathology reports were used to assess the demographic and clinical features of the patients and the disease at the time of the diagnosis. Formalin-fixed, paraffin-embedded tissue samples were retrieved for each case, and mutation analysis of the KITand PDGFRagenes was performed. KITand PDGFRamutations were detected in 81.8% and 5% of the cases, respectively. The most common KITmutation was W557_K558del in exon 11, while D842V in exon 18 was the most common PDGFRagenetic alteration; V561D was the only PDGFRamutation found in exon 12. The global “wild-type” cases, with no mutations in either the KITor PDGFRagenes, were 13 (13.1%). The mean survival of those patients was approximately 46.9 (±43.9) months. Globally, 86.9% of Sardinian patients with GIST had a KITor PDGFRamutation; the former were more frequent in comparison with other Italian cohorts, while PDGFRamutations were rare. No statistical differences in survival between mutated and wild-type cases, and between KITand PDGFRamutated cases were detected in our study. |
| Databáze: |
Supplemental Index |
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