Multiple endocrine neoplasia type 2B: A genotype-phenotype diagnostic and therapeutic approach
Multiple endocrine neoplasia type 2B (MEN 2B) is a rare genetic syndrome with an estimated prevalence of 0.9 to 1.6 per million individuals and an annual incidence of 1.4 to 2.6 per million live births. It is caused by a mutation in the RET proto-oncogene and is characterized by the presence of medu...
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| Format: | Article |
| Language: | Spanish |
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Universidad de Antioquia
2023-07-01
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| Series: | Iatreia |
| Subjects: | |
| Online Access: | https://revistas.udea.edu.co/index.php/iatreia/article/view/348379 |
| _version_ | 1797780840176943104 |
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| author | Valentina Agredo Delgado Johnayro Gutierrez Restrepo Alejandro Román González |
| author_facet | Valentina Agredo Delgado Johnayro Gutierrez Restrepo Alejandro Román González |
| author_sort | Valentina Agredo Delgado |
| collection | DOAJ |
| description | Multiple endocrine neoplasia type 2B (MEN 2B) is a rare genetic syndrome with an estimated prevalence of 0.9 to 1.6 per million individuals and an annual incidence of 1.4 to 2.6 per million live births. It is caused by a mutation in the RET proto-oncogene and is characterized by the presence of medullary thyroid carcinoma (MTC) in 100% of cases, pheochromocytoma in up to 50%, and extraendocrine features such as a marfanoid phenotype, musculoskeletal and dental abnormalities, mucosal neuromas, alacrimia, and diffuse intestinal ganglioneuromatosis with symptoms of esophageal and gastrointestinal dysmotility. This syndrome is associated with a diminished quality of life and poor survival, primarily due to the aggressiveness of MTC, which often presents at an early or metastatic stage. Diagnosis is often delayed, resulting in a delayed comprehensive approach that includes genetic profiling, early surgical management of MTC, and specific therapies such as tyrosine kinase inhibitors (TKIs) for advanced MTC. Surgery remains the mainstay and the only potential cure, although the advent of targeted therapies appears to improve progression-free survival in advanced cases. |
| first_indexed | 2024-03-12T23:49:29Z |
| format | Article |
| id | doaj.art-91ac941323e745698ba573cbaa0f8c28 |
| institution | Directory Open Access Journal |
| issn | 0121-0793 2011-7965 |
| language | Spanish |
| last_indexed | 2024-03-12T23:49:29Z |
| publishDate | 2023-07-01 |
| publisher | Universidad de Antioquia |
| record_format | Article |
| series | Iatreia |
| spelling | doaj.art-91ac941323e745698ba573cbaa0f8c282023-07-13T18:43:26ZspaUniversidad de AntioquiaIatreia0121-07932011-79652023-07-01363377392https://doi.org/10.17533/udea.iatreia.190Multiple endocrine neoplasia type 2B: A genotype-phenotype diagnostic and therapeutic approachValentina Agredo Delgado0https://orcid.org/0000-0002-5391-9665Johnayro Gutierrez Restrepo1https://orcid.org/0000-0002-5611-4985Alejandro Román González2https://orcid.org/0000-0001-5942-1035Universidad de Antioquia, Medellín, ColombiaUniversidad de Antioquia, Medellín, ColombiaUniversidad de Antioquia, Medellín, ColombiaMultiple endocrine neoplasia type 2B (MEN 2B) is a rare genetic syndrome with an estimated prevalence of 0.9 to 1.6 per million individuals and an annual incidence of 1.4 to 2.6 per million live births. It is caused by a mutation in the RET proto-oncogene and is characterized by the presence of medullary thyroid carcinoma (MTC) in 100% of cases, pheochromocytoma in up to 50%, and extraendocrine features such as a marfanoid phenotype, musculoskeletal and dental abnormalities, mucosal neuromas, alacrimia, and diffuse intestinal ganglioneuromatosis with symptoms of esophageal and gastrointestinal dysmotility. This syndrome is associated with a diminished quality of life and poor survival, primarily due to the aggressiveness of MTC, which often presents at an early or metastatic stage. Diagnosis is often delayed, resulting in a delayed comprehensive approach that includes genetic profiling, early surgical management of MTC, and specific therapies such as tyrosine kinase inhibitors (TKIs) for advanced MTC. Surgery remains the mainstay and the only potential cure, although the advent of targeted therapies appears to improve progression-free survival in advanced cases.https://revistas.udea.edu.co/index.php/iatreia/article/view/348379carcinomamedullarynanoparticles;pheochromocytomamultiple endocrine neoplasia type 2bneuroma |
| spellingShingle | Valentina Agredo Delgado Johnayro Gutierrez Restrepo Alejandro Román González Multiple endocrine neoplasia type 2B: A genotype-phenotype diagnostic and therapeutic approach Iatreia carcinoma medullary nanoparticles; pheochromocytoma multiple endocrine neoplasia type 2b neuroma |
| title | Multiple endocrine neoplasia type 2B: A genotype-phenotype diagnostic and therapeutic approach |
| title_full | Multiple endocrine neoplasia type 2B: A genotype-phenotype diagnostic and therapeutic approach |
| title_fullStr | Multiple endocrine neoplasia type 2B: A genotype-phenotype diagnostic and therapeutic approach |
| title_full_unstemmed | Multiple endocrine neoplasia type 2B: A genotype-phenotype diagnostic and therapeutic approach |
| title_short | Multiple endocrine neoplasia type 2B: A genotype-phenotype diagnostic and therapeutic approach |
| title_sort | multiple endocrine neoplasia type 2b a genotype phenotype diagnostic and therapeutic approach |
| topic | carcinoma medullary nanoparticles; pheochromocytoma multiple endocrine neoplasia type 2b neuroma |
| url | https://revistas.udea.edu.co/index.php/iatreia/article/view/348379 |
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