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Molecular genetic alterations in egfr CA-SSR-1 microsatellite and egfr copy number changes are associated with aggressiveness in thymoma.
Conti, Salvatore; Gallo, Enzo; Sioletic, Stefano; Facciolo, Francesco; Palmieri, Giovannella; Lauriola, Libero; Evoli, Amelia; Martucci, Robert; Di Benedetto, Anna; Novelli, Flavia; Giannarelli, Diana; Deriu, Gloria; Granone, Pierluigi; Ottaviano, Margaret; Muti, Paola; Pescarmona, Edoardo; Marino, Mirella.
Afiliación
  • Conti S; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Gallo E; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Sioletic S; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Facciolo F; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Palmieri G; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Lauriola L; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Evoli A; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Martucci R; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Di Benedetto A; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Novelli F; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Giannarelli D; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Deriu G; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Granone P; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Ottaviano M; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Muti P; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Pescarmona E; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
  • Marino M; 1 Department of Pathology, Regina Elena National Cancer Institute, Rome, Italy ; 2 Thoracic Surgery, Regina Elena National Cancer Institute, Rome, Italy ; 3 Rare Tumors Reference Center, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy ; 4 Pathology, Catholic Univer
J Thorac Dis ; 8(3): 386-95, 2016 Mar.
Article en En | MEDLINE | ID: mdl-27076933
BACKGROUND: The key role of egfr in thymoma pathogenesis has been questioned following the failure in identifying recurrent genetic alterations of egfr coding sequences and relevant egfr amplification rate. We investigated the role of the non-coding egfr CA simple sequence repeat 1 (CA-SSR-1) in a thymoma case series. METHODS: We used sequencing and egfr-fluorescence in situ hybridization (FISH) to genotype 43 thymomas; (I) for polymorphisms and somatic loss of heterozygosity of the non-coding egfr CA-SSR-1 microsatellite and (II) for egfr gene copy number changes. RESULTS: We found two prevalent CA-SSR-1 genotypes: a homozygous 16 CA repeat and a heterozygous genotype, bearing alleles with 16 and 20 CA repeats. The average combined allele length was correlated with tumor subtype: shorter sequences were significantly associated with the more aggressive WHO thymoma subtype group including B2/B3, B3 and B3/C histotypes. Four out of 29 informative cases analysed for somatic CA-SSR-1 loss of heterozygosity showed allelic imbalance (AI), 3/4 with loss of the longer allele. By egfr-FISH analysis, 9 out of 33 cases were FISH positive. Moreover, the two integrated techniques demonstrated that 3 out of 4 CA-SSR-1-AI positive cases with short allele relative prevalence showed significantly low or high chromosome 7 "polysomy"/increased gene copy number by egfr-FISH. CONCLUSIONS: Our molecular and genetic and follow up data indicated that CA-SSR-1-allelic imbalance with short allele relative prevalence significantly correlated with EGFR 3+ immunohistochemical score, increased egfr Gene Copy Number, advanced stage and with relapsing/metastatic behaviour in thymomas.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Thorac Dis Año: 2016 Tipo del documento: Article Pais de publicación: China

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Thorac Dis Año: 2016 Tipo del documento: Article Pais de publicación: China