Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors
The aim of this study is to evaluate the predictive role of specific clinical factors for the diagnosis of Multiple Endocrine Neoplasia type-1 (MEN1) and type-4 (MEN4) in patients with an initial diagnosis of gastrointestinal, bronchial, or thymic neuroendocrine tumor (NET). Methods: Patients referr...
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| Format: | Article |
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MDPI AG
2023-09-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/9/1782 |
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| author | Antongiulio Faggiano Beatrice Fazzalari Nevena Mikovic Flaminia Russo Virginia Zamponi Rossella Mazzilli Vito Guarnieri Maria Piane Vincenzo Visco Simona Petrucci |
| author_facet | Antongiulio Faggiano Beatrice Fazzalari Nevena Mikovic Flaminia Russo Virginia Zamponi Rossella Mazzilli Vito Guarnieri Maria Piane Vincenzo Visco Simona Petrucci |
| author_sort | Antongiulio Faggiano |
| collection | DOAJ |
| description | The aim of this study is to evaluate the predictive role of specific clinical factors for the diagnosis of Multiple Endocrine Neoplasia type-1 (MEN1) and type-4 (MEN4) in patients with an initial diagnosis of gastrointestinal, bronchial, or thymic neuroendocrine tumor (NET). Methods: Patients referred to the NET Unit between June 2021 and December 2022 with a diagnosis of NET and at least one clinical criterion of suspicion for MEN1 and MEN4 underwent molecular analysis of the <i>MEN1</i> and <i>CDKN1B</i> genes. Phenotypic criteria were: (1) age ≤ 40 years; (2) NET multifocality; (3) MEN1/4-associated manifestations other than NETs; and (4) endocrine syndrome related to NETs or pituitary/adrenal tumors. Results: A total of 22 patients were studied. In 18 patients (81.8%), the first-level genetic test was negative (Group A), while four patients (25%) were positive for <i>MEN1</i> (Group B). No patient was positive for <i>MEN4</i>. In Group A, 10 cases had only one clinical criterion, and three patients met three criteria. In Group B, three patients had three criteria, and one met all criteria. Conclusion: These preliminary data show that a diagnosis of NET in patients with a negative family history is suggestive of MEN1 in the presence of ≥three positive phenotypic criteria, including early age, multifocality, multiple MEN-associated manifestations, and endocrine syndromes. This indication may allow optimization of the diagnosis of MEN in patients with NET. |
| first_indexed | 2024-03-10T22:43:53Z |
| format | Article |
| id | doaj.art-f3b27b40cd914b398630f310cbb15c82 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T22:43:53Z |
| publishDate | 2023-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-f3b27b40cd914b398630f310cbb15c822023-11-19T10:53:38ZengMDPI AGGenes2073-44252023-09-01149178210.3390/genes14091782Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine TumorsAntongiulio Faggiano0Beatrice Fazzalari1Nevena Mikovic2Flaminia Russo3Virginia Zamponi4Rossella Mazzilli5Vito Guarnieri6Maria Piane7Vincenzo Visco8Simona Petrucci9Endocrinology Unit, Sant’Andrea Hospital, ENETS Center of Excellence, 00189 Rome, ItalyEndocrinology Unit, Sant’Andrea Hospital, ENETS Center of Excellence, 00189 Rome, ItalyEndocrinology Unit, Sant’Andrea Hospital, ENETS Center of Excellence, 00189 Rome, ItalyEndocrinology Unit, Sant’Andrea Hospital, ENETS Center of Excellence, 00189 Rome, ItalyEndocrinology Unit, Sant’Andrea Hospital, ENETS Center of Excellence, 00189 Rome, ItalyEndocrinology Unit, Sant’Andrea Hospital, ENETS Center of Excellence, 00189 Rome, ItalyDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 Foggia, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 Rome, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 Rome, ItalyDepartment of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 Rome, ItalyThe aim of this study is to evaluate the predictive role of specific clinical factors for the diagnosis of Multiple Endocrine Neoplasia type-1 (MEN1) and type-4 (MEN4) in patients with an initial diagnosis of gastrointestinal, bronchial, or thymic neuroendocrine tumor (NET). Methods: Patients referred to the NET Unit between June 2021 and December 2022 with a diagnosis of NET and at least one clinical criterion of suspicion for MEN1 and MEN4 underwent molecular analysis of the <i>MEN1</i> and <i>CDKN1B</i> genes. Phenotypic criteria were: (1) age ≤ 40 years; (2) NET multifocality; (3) MEN1/4-associated manifestations other than NETs; and (4) endocrine syndrome related to NETs or pituitary/adrenal tumors. Results: A total of 22 patients were studied. In 18 patients (81.8%), the first-level genetic test was negative (Group A), while four patients (25%) were positive for <i>MEN1</i> (Group B). No patient was positive for <i>MEN4</i>. In Group A, 10 cases had only one clinical criterion, and three patients met three criteria. In Group B, three patients had three criteria, and one met all criteria. Conclusion: These preliminary data show that a diagnosis of NET in patients with a negative family history is suggestive of MEN1 in the presence of ≥three positive phenotypic criteria, including early age, multifocality, multiple MEN-associated manifestations, and endocrine syndromes. This indication may allow optimization of the diagnosis of MEN in patients with NET.https://www.mdpi.com/2073-4425/14/9/1782multiple endocrine neoplasia type 1multiple endocrine neoplasia type 4neuroendocrine tumorspredictive factorsgenetic testphenocopies |
| spellingShingle | Antongiulio Faggiano Beatrice Fazzalari Nevena Mikovic Flaminia Russo Virginia Zamponi Rossella Mazzilli Vito Guarnieri Maria Piane Vincenzo Visco Simona Petrucci Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors Genes multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 4 neuroendocrine tumors predictive factors genetic test phenocopies |
| title | Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors |
| title_full | Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors |
| title_fullStr | Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors |
| title_full_unstemmed | Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors |
| title_short | Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors |
| title_sort | clinical factors predicting multiple endocrine neoplasia type 1 and type 4 in patients with neuroendocrine tumors |
| topic | multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 4 neuroendocrine tumors predictive factors genetic test phenocopies |
| url | https://www.mdpi.com/2073-4425/14/9/1782 |
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