Michael Monostra , 2025-04-30 14:01:00
April 30, 2025
4 min read
Key takeaways:
- An AACE consensus statement outlines treatment recommendations for MEN1-associated tumors and genetic testing.
- More research is needed to examine the genetics of MEN1 and develop predictive biomarkers.
A consensus statement published in Endocrine Practice examines how health care professionals should approach treating and screening people with tumors associated with multiple endocrine neoplasia type 1.
Guidance published by the American Association of Clinical Endocrinology focuses on multiple endocrine neoplasia type 1 (MEN1) and tumors related to the condition. According to the consensus statement, MEN1 is an endocrine tumor syndrome that is found in one in 20,000 to one in 40,000 people. MEN1 is associated with tumors that can affect different organs of the body and crosses into multiple medical specialties, according to Alexandra Gangi, MD, a surgical oncologist at Cedars-Sinai in Los Angeles and a co-author of the consensus statement.
A consensus statement published in Endocrine Practice details guidance on treatment and genetic testing for MEN1-associated tumors. Image: Adobe Stock
“This was a centralized effort to put together experts from different specialties and really home in on the most important takeaways,” Gangi told Healio.
Tumors associated with MEN1
According to Jaydira Del Rivero, MD, associate research physician at the NIH and co-author of the consensus statement, tumors most associated with MEN1 are typically found in the parathyroid gland, pituitary gland or pancreas.
Jaydira Del Rivero
“The most frequently observed tumors in individuals with MEN1 are primary parathyroid tumors,” Del Rivero told Healio. “Pituitary tumors are the second most common manifestation. Although pancreatic neuroendocrine tumors are less prevalent, they are associated with a higher mortality risk in MEN1 patients. These tumors can exhibit aggressive behavior and have the potential to metastasize, underscoring the importance of early detection and appropriate management. A comprehensive understanding of these tumor associations is essential for effective monitoring and treatment planning, highlighting the necessity of regular screenings and a collaborative, multidisciplinary approach to patient care.”
Pancreatic neuroendocrine tumors can present differently among people with MEN1.
In the pancreas, some patients may have functional tumors, which can secrete a hormone that causes a variety of symptoms, Gangi said. The consensus statement recommends surgical removal of functional pancreatic tumors. Conversely, health care professionals may choose not to remove a nonfunctioning pancreatic neuroendocrine tumor.
Alexandra Gangi
“You have to be thoughtful about what specifically you’re removing and how the sequelae of surgery may impact the patient, especially when we know that they may have the development of another tumor down the line that might require another resection of the pancreas,” Gangi said. “We are dealing with an important organ that is very vital.”
Del Rivero added that additional tumors associated with MEN1 may also be associated with elevated health risks. Thymic neuroendocrine tumors, while less commonly discussed, are indeed associated with MEN1. These tumors can be aggressive and have a significant impact on morbidity and mortality, especially if they are not diagnosed and treated early.
“Furthermore, it is important to note the increased incidence of breast cancer among women with MEN1,” Del Rivero said. “This underscores the need for individualized screening strategies, including regular mammography and clinical breast assessments, to ensure early detection and optimal management “
Importance of genetic testing
One section of the consensus statement focuses on who should undergo genetic testing and when it should be performed. In addition to testing patients diagnosed with clinical or familial MEN1, people who have a first-degree relative with a germline MEN1 pathogenic variant are recommended to undergo genetic testing.
Genetic testing should also be performed in people who have manifestations suspicious of MEN1, according to the consensus statement. Some of those manifestations include the development of a primary hyperparathyroidism tumor before age 30 years, the presence of primary hyperparathyroidism tumors in multiple glands, the formation of multiple pancreatic neuroendocrine tumors or the presence of multiple MEN1-related tumors without a clinical MEN1 diagnosis.
“In children of individuals who are known to be MEN1 carriers, testing should begin as early as the age of 5 years,” Gangi said. “This is predominantly because you want to plan for appropriate surveillance in those patients if they test positive because they have a high risk for developing tumors.”
Having access to a genetic counselor is essential for individuals undergoing testing for MEN1, according to Del Rivero. She said genetic counselors play a crucial role in guiding patients through the testing process by providing comprehensive information about the associated risks and benefits. Their support helps patients understand the potential implications of their results for themselves and their family members, including considerations for subsequent care, ongoing monitoring and management. Del Rivero added that genetic counselors can effectively communicate important information regarding the genetic testing process.
Health care professionals should also be informed about the existence of genotype-negative clinical MEN1, according to Del Rivero. This refers to individuals who exhibit clinical features consistent with MEN1 and may have a family history of the syndrome, but do not have detectable pathogenic variants through genetic testing. According to consensus statement, approximately 16% of MEN1 diagnoses are genotype-negative clinical cases.
More research needed
Del Rivero said there is an unmet need for advancing research on MEN1 and its associated tumor presentations.
“Enhanced efforts to gather comprehensive data on MEN1-associated tumors are essential to address current knowledge gaps, particularly concerning tumor biology, progression patterns and optimal management approaches,” Del Rivero said. “Investigating the genetic factors underlying MEN1 and related tumors is critical. A deeper understanding of the genetic contributions to tumor development and behavior will inform more precise monitoring and therapeutic strategies.”
Del Rivero added that a specialized focus should be made on pancreatic neuroendocrine tumors as they may be more aggressive compared with other neuroendocrine tumors associated with MEN1.
“Prioritizing targeted research and expanding our understanding of MEN1-associated tumors — particularly pancreatic neuroendocrine tumors — is vital for developing effective, tailored interventions and ultimately enhancing patient care,” del Rivero said. “Collaboration among researchers, clinicians, and genetic specialists will be instrumental in advancing these initiatives.”
Gangi said more data are needed across all MEN1-associated tumors, but noted that large studies are difficult to conduct with the condition due to its rarity.
“It’s a difficult paradigm in terms of best options for clinical management,” Gangi said. “But we are learning a lot more about the nuances of the development of the abnormality within the menin gene, its downstream effects and how it ultimately manifests.”
Del Rivero said further research is needed to examine additional treatments for tumors associated with MEN1 and to identify predictive biomarkers that can assist health care professionals in customizing treatment plans to meet each patient’s specific needs. The lack of reliable prognostic biomarkers for rare cancers such as MEN1-associated tumors present a significant challenge for health care professionals, she said.
“The identification of predictive biomarkers is vital for personalizing treatment strategies, enabling clinicians to better evaluate patient risk profiles and to select the most effective therapeutic interventions,” del Rivero said. “This approach has the potential to improve clinical outcomes, reduce unnecessary treatments and enhance the overall quality of patient care.”
For more information:
Jaydira Del Rivero, MD, can be reached at jaydira.delrivero@nih.gov.
Alexandra Gangi, MD, can be reached at alexandra.gangi@cshs.org.
