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From Initial Description by Wermer to Present-Day MEN1: What have We Learned?
1Department of Surgical Oncology, Unit 1484, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX, 77030, USA. nperrier@mdanderson.org.
World Journal of Surgery
|February 1, 2018
Summary
Moving beyond the "3 Ps" of MEN1, this study emphasizes prediction, pausing progression, and prevention. Early detection of aggressive disease and genetic testing are crucial for managing Multiple Endocrine Neoplasia type 1.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Multiple Endocrine Neoplasia type 1 (MEN1) has traditionally been defined by affected organs: pancreas, parathyroid, and pituitary.
- A shift in focus is needed towards proactive management strategies for MEN1.
Purpose of the Study:
- To review current updates and uncertainties regarding MEN1.
- To explore novel therapeutic options and diagnostic approaches for MEN1.
- To advocate for a paradigm shift towards prediction, progression pausing, and prevention in MEN1 management.
Main Methods:
- Comprehensive review of the MEN1 gene, implicated mutations, and cell cycle pathways.
- Examination of therapeutic options including radiofrequency ablation, systemic therapies, peptide receptor radionuclide therapy, and immune checkpoint inhibitors.
- Evaluation of preimplantation genetic testing and advanced diagnostic markers like NETest.
Main Results:
- Mutations in exon 2 of the MEN1 gene are associated with increased risk of distant metastases and pancreatic neuroendocrine tumor (PNET) development.
- Missense mutations affecting CHES1 interaction correlate with more aggressive disease and higher mortality from PNETs.
- Promising agents for advanced neuroendocrine tumors (NETs) include lanreotide and everolimus; NETest shows potential as a multidimensional tumor marker.
Conclusions:
- Further research is needed to determine the efficacy of adjunct therapies for MEN1.
- Early detection of aggressive disease through prediction is a key strategy.
- Patient engagement in prevention is essential, representing the only true cure for MEN1.
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