ArticleJournal of thoracic disease2016
Molecular genetic alterations in egfr CA-SSR-1 microsatellite and egfr copy number changes are associated with aggressiveness in thymoma.
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2 citing papers in PubMed, 3 citations in OpenAlex.
- Thymic Epithelial Tumors as a Model of Networking: Development of a Synergistic Strategy for Clinical and Translational Research Purposes.Frontiers in oncology · 2020Article
- Thymic Epithelial Tumors phenotype relies on miR-145-5p epigenetic regulation.Molecular cancer · 2017Article
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17 authors at 4 institutions in 2 countries.
Salvatore Conti1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Enzo Gallo1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Stefano Sioletic1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Francesco Facciolo1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Giovannella Palmieri1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Libero Lauriola1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Amelia Evoli1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Robert Martucci1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Anna Di Benedetto1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Flavia Novelli1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Diana Giannarelli1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Gloria Deriu1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Pierluigi Granone1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Margaret Ottaviano1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Paola Muti1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Edoardo Pescarmona1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
Mirella Marino1 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 University, Rome, Italy ; 5 Department of Neurosciences, Catholic University, Rome, Italy ; 6 Division of Health Technologies-ENEA C.R. Casaccia, Rome, Italy ; 7 Biostatistic Unit, Regina Elena National Cancer Institute, Rome, Italy ; 8 Thoracic Surgery, Catholic University, Rome, Italy ; 9 Department of Oncology, Faculty of Health Science, McMaster University, Hamilton, Canada.
McMaster University · CANational Agency for New Technologies, Energy and Sustainable Economic Development · ITFederico II University Hospital · ITUniversità Cattolica del Sacro Cuore · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 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.
methodsWe 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.
resultsWe 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.
conclusionsOur 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.
Indexed as
allelic imbalance (AI)egfr-fluorescent in situ hybridization (egfr-FISH)egfr microsatellite CA-SSR-1loss of heterozygositythymic epithelial tumors (TET)Thymoma
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