Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict?
The clinical manifestation of multiple endocrine neoplasia type 2 (MEN2) in terms of developing medullary thyroid cancer (MTC), pheochromocytoma (PCC), and/or primary hyperparathyroidism (PHPT) is related to the respective pathogenic variant of the <i>RET</i> proto-oncogene. The aim of t...
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MDPI AG
2024-01-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/16/3/494 |
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| author | Teresa Binter Sabina Baumgartner-Parzer Marie Helene Schernthaner-Reiter Melisa Arikan Lindsay Hargitai Martin Bruno Niederle Bruno Niederle Christian Scheuba Philipp Riss |
| author_facet | Teresa Binter Sabina Baumgartner-Parzer Marie Helene Schernthaner-Reiter Melisa Arikan Lindsay Hargitai Martin Bruno Niederle Bruno Niederle Christian Scheuba Philipp Riss |
| author_sort | Teresa Binter |
| collection | DOAJ |
| description | The clinical manifestation of multiple endocrine neoplasia type 2 (MEN2) in terms of developing medullary thyroid cancer (MTC), pheochromocytoma (PCC), and/or primary hyperparathyroidism (PHPT) is related to the respective pathogenic variant of the <i>RET</i> proto-oncogene. The aim of this study is to retrospectively analyze the individual, genotype-dependent clinical manifestations of a large cohort of MEN2 patients. By comparing their clinical profile with currently existing evidence-based knowledge, an optimal therapy and prevention strategy in terms of prophylactic thyroidectomy and clinical follow-up could be ensured. This is a retrospective single-center study of 158 MEN2 patients who were diagnosed and/or surgically treated at a tertiary referral care center between 1990 and 2022. All participants were categorized according to their pathogenic variant of the <i>RET</i> proto-oncogene. Subsequently, the clinical manifestation of the disease and its time of occurrence was documented. Our analysis showed results in line with existing studies, except for a considerably lower-than-predicted occurrence of PCC in patients with V804M/L mutations. This study supports the current recommendation regarding the pathogenic variant-dependent management of this rare cancer-associated syndrome. |
| first_indexed | 2024-03-08T03:59:29Z |
| format | Article |
| id | doaj.art-4c007ebf4dcd4d1fbc0f3685dfd70137 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-08T03:59:29Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-4c007ebf4dcd4d1fbc0f3685dfd701372024-02-09T15:08:43ZengMDPI AGCancers2072-66942024-01-0116349410.3390/cancers16030494Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict?Teresa Binter0Sabina Baumgartner-Parzer1Marie Helene Schernthaner-Reiter2Melisa Arikan3Lindsay Hargitai4Martin Bruno Niederle5Bruno Niederle6Christian Scheuba7Philipp Riss8Division of Visceral Surgery, Department of General Surgery, Medical University of Vienna, 1090 Vienna, AustriaDivision of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, 1090 Vienna, AustriaDivision of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, 1090 Vienna, AustriaDivision of Visceral Surgery, Department of General Surgery, Medical University of Vienna, 1090 Vienna, AustriaDivision of Visceral Surgery, Department of General Surgery, Medical University of Vienna, 1090 Vienna, AustriaDivision of Visceral Surgery, Department of General Surgery, Medical University of Vienna, 1090 Vienna, AustriaDivision of Visceral Surgery, Department of General Surgery, Medical University of Vienna, 1090 Vienna, AustriaDivision of Visceral Surgery, Department of General Surgery, Medical University of Vienna, 1090 Vienna, AustriaDivision of Visceral Surgery, Department of General Surgery, Medical University of Vienna, 1090 Vienna, AustriaThe clinical manifestation of multiple endocrine neoplasia type 2 (MEN2) in terms of developing medullary thyroid cancer (MTC), pheochromocytoma (PCC), and/or primary hyperparathyroidism (PHPT) is related to the respective pathogenic variant of the <i>RET</i> proto-oncogene. The aim of this study is to retrospectively analyze the individual, genotype-dependent clinical manifestations of a large cohort of MEN2 patients. By comparing their clinical profile with currently existing evidence-based knowledge, an optimal therapy and prevention strategy in terms of prophylactic thyroidectomy and clinical follow-up could be ensured. This is a retrospective single-center study of 158 MEN2 patients who were diagnosed and/or surgically treated at a tertiary referral care center between 1990 and 2022. All participants were categorized according to their pathogenic variant of the <i>RET</i> proto-oncogene. Subsequently, the clinical manifestation of the disease and its time of occurrence was documented. Our analysis showed results in line with existing studies, except for a considerably lower-than-predicted occurrence of PCC in patients with V804M/L mutations. This study supports the current recommendation regarding the pathogenic variant-dependent management of this rare cancer-associated syndrome.https://www.mdpi.com/2072-6694/16/3/494multiple endocrine neoplasia type 2hereditary medullary thyroid carcinomac-cell hyperplasiapheochromocytomaprimary hyperparathyroidism<i>RET</i> mutation |
| spellingShingle | Teresa Binter Sabina Baumgartner-Parzer Marie Helene Schernthaner-Reiter Melisa Arikan Lindsay Hargitai Martin Bruno Niederle Bruno Niederle Christian Scheuba Philipp Riss Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict? Cancers multiple endocrine neoplasia type 2 hereditary medullary thyroid carcinoma c-cell hyperplasia pheochromocytoma primary hyperparathyroidism <i>RET</i> mutation |
| title | Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict? |
| title_full | Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict? |
| title_fullStr | Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict? |
| title_full_unstemmed | Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict? |
| title_short | Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict? |
| title_sort | does genotype specific phenotype in patients with multiple endocrine neoplasia type 2 occur as current guidelines predict |
| topic | multiple endocrine neoplasia type 2 hereditary medullary thyroid carcinoma c-cell hyperplasia pheochromocytoma primary hyperparathyroidism <i>RET</i> mutation |
| url | https://www.mdpi.com/2072-6694/16/3/494 |
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