Filter

Refine by date

—
  • Print
  • Save

Search Results

You are looking at 1 - 3 of 3 items for :

  • "parathyroid tumorigenesis" x
Clear All
Elena Pardi Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

Search for other papers by Elena Pardi in
Google Scholar
PubMed Close
,
Stefano Mariotti Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

Search for other papers by Stefano Mariotti in
Google Scholar
PubMed Close
,
Natalia S Pellegata Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

Search for other papers by Natalia S Pellegata in
Google Scholar
PubMed Close
,
Katiuscia Benfini Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

Search for other papers by Katiuscia Benfini in
Google Scholar
PubMed Close
,
Simona Borsari Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

Search for other papers by Simona Borsari in
Google Scholar
PubMed Close
,
Federica Saponaro Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

Search for other papers by Federica Saponaro in
Google Scholar
PubMed Close
,
Liborio Torregrossa Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

Search for other papers by Liborio Torregrossa in
Google Scholar
PubMed Close
,
Antonello Cappai Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

Search for other papers by Antonello Cappai in
Google Scholar
PubMed Close
,
Chiara Satta Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

Search for other papers by Chiara Satta in
Google Scholar
PubMed Close
,
Marco Mastinu Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

Search for other papers by Marco Mastinu in
Google Scholar
PubMed Close
,
Claudio Marcocci Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

Search for other papers by Claudio Marcocci in
Google Scholar
PubMed Close
, and
Filomena Cetani Endocrine Unit 2, Endocrinology Unit, Institute of Pathology, Department of Surgical, Department of Clinical and Experimental Medicine, University Hospital of Pisa, University of Pisa, Via Paradisa 2, Pisa, Italy

Search for other papers by Filomena Cetani in
Google Scholar
PubMed Close

negative result. The search for mutations of other genes involved in parathyroid tumorigenesis allowed the identification of a c.374_375delCT germline mutation in the CDKN1B gene, leading to the diagnosis of MEN4. The age at diagnosis of PHPT in our

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0116
Volume/Issue:
Volume 4: Issue 1
Open access
Filomena Cetani Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Filomena Cetani in
Google Scholar
PubMed Close
,
Chiara Banti Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Chiara Banti in
Google Scholar
PubMed Close
,
Elena Pardi Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Elena Pardi in
Google Scholar
PubMed Close
,
Simona Borsari Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Simona Borsari in
Google Scholar
PubMed Close
,
Paolo Viacava Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Paolo Viacava in
Google Scholar
PubMed Close
,
Paolo Miccoli Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Paolo Miccoli in
Google Scholar
PubMed Close
,
Liborio Torregrossa Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Liborio Torregrossa in
Google Scholar
PubMed Close
,
Fulvio Basolo Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Fulvio Basolo in
Google Scholar
PubMed Close
,
Maria Rosa Pelizzo Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Maria Rosa Pelizzo in
Google Scholar
PubMed Close
,
Massimo Rugge Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Massimo Rugge in
Google Scholar
PubMed Close
,
Gianmaria Pennelli Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Gianmaria Pennelli in
Google Scholar
PubMed Close
,
Guido Gasparri Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Guido Gasparri in
Google Scholar
PubMed Close
,
Mauro Papotti Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Mauro Papotti in
Google Scholar
PubMed Close
,
Marco Volante Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Marco Volante in
Google Scholar
PubMed Close
,
Edda Vignali Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Edda Vignali in
Google Scholar
PubMed Close
,
Federica Saponaro Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Federica Saponaro in
Google Scholar
PubMed Close
, and
Claudio Marcocci Department of Clinical and Experimental Medicine, Section of Pathology, Department of Surgical, Surgery Unit, Medicine, General Surgery 3 and Esophageal Surgery, Clinical and Biological Sciences, Department of Oncology

Search for other papers by Claudio Marcocci in
Google Scholar
PubMed Close

Inactivating mutations of the CDC73 tumor suppressor gene have been reported in parathyroid carcinomas (PC), in association with the loss of nuclear expression of the encoded protein, parafibromin. The aim of this study was to further investigate the role of the CDC73 gene in PC and evaluate whether gene carrier status and/or the loss of parafibromin staining might have an effect on the outcome of the disease. We performed genetic and immunohistochemical studies in parathyroid tumor samples from 35 patients with sporadic PC. Nonsense or frameshift CDC73 mutations were detected in 13 samples suitable for DNA sequencing. Six of these mutations were germline. Loss of parafibromin expression was found in 17 samples. The presence of the CDC73 mutation as well as the loss of parafibromin predicted a high likelihood of subsequent recurrence and/or metastasis (92.3%, P=0.049 and 94.1%, P=0.0017 respectively), but only the latter was associated with a decreased overall 5- and 10-year survival rates (59%, P=0.107, and 23%, P=0.0026 respectively). The presence of both the CDC73 mutation and loss of parafibromin staining compared with their absence predicted a lower overall survival at 10- (18 vs 84%, P=0.016) but not at 5-year follow-up. In conclusion, loss of parafibromin staining, better than CDC73 mutation, predicts the clinical outcome and mortality rate. The added value of CDC73 mutational analysis is the possibility of identifying germline mutations, which will prompt the screening of other family members.

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0046
Volume/Issue:
Volume 2: Issue 4
Open access
Maria Mizamtsidi Department of Endocrinology, Diabetes and Metabolism, Hellenic Red Cross Hospital, Athens, Greece

Search for other papers by Maria Mizamtsidi in
Google Scholar
PubMed Close
,
Constantinos Nastos Second Department of Surgery, Endocrine Surgery Unit, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece

Search for other papers by Constantinos Nastos in
Google Scholar
PubMed Close
,
George Mastorakos Unit of Endocrinology, Diabetes and Metabolism, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece

Search for other papers by George Mastorakos in
Google Scholar
PubMed Close
,
Roberto Dina Department of Pathology, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK

Search for other papers by Roberto Dina in
Google Scholar
PubMed Close
,
Ioannis Vassiliou Second Department of Surgery, Endocrine Surgery Unit, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece

Search for other papers by Ioannis Vassiliou in
Google Scholar
PubMed Close
,
Maria Gazouli Department of Basic Medical Sciences, Laboratory of Biology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

Search for other papers by Maria Gazouli in
Google Scholar
PubMed Close
, and
Fausto Palazzo Department of Thyroid and Endocrine Surgery, Imperial College London, London, UK

Search for other papers by Fausto Palazzo in
Google Scholar
PubMed Close

the emergence of adenomas, hyperplasias and carcinomas ( 5 , 6 ), although it seems that epigenetic changes could also participate actively in parathyroid tumorigenesis ( 7 , 8 ). The main focus of the present study is to present the current optimal

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-17-0283
Volume/Issue:
Volume 7: Issue 2
Open access