The first 60 days: Multiple endocrine neoplasia syndromes (MEN1, MEN2, MEN4)
The MEN syndromes are inherited faults in a single gene that cause tumours in several hormone glands over a lifetime. Because the gene can be found in childhood, at-risk relatives can be tested, watched and in MEN2 have the thyroid removed before cancer develops; and for MEN2 thyroid cancer that does spread there is now a precise pill, selpercatinib, that blocks the faulty RET protein. Below, week by week, is what OnCo's record of Multiple endocrine neoplasia syndromes (MEN1, MEN2, MEN4) says about the first two months: the order is typical, the timing is yours to ask about. Sections appear only where the record has something to say. Orientation, not medical advice.
What happens now
Staging tests establish exactly what and where the cancer is. Everything else follows from the answers.
Ask which of these were tested and what the results were; see the report reader for what each value means.
These specialties appear in the standard of care for this cancer. In most centres they meet weekly as a tumour board to agree each plan; you can ask when yours was discussed and what was decided.
- PathologistNamed in the standard of care for: MEN2 carriers (RET-positive).
- SurgeonNamed in the standard of care for: MEN2 carriers (RET-positive), MEN1 carriers.
- Medical oncologistNamed in the standard of care for: Advanced RET-mutant medullary thyroid carcinoma, MEN1 carriers.
- Clinical oncologist (radiotherapy)Named in the standard of care for: MEN1 carriers.
- Transplant and cell therapy teamNamed in the standard of care for: MEN1 carriers.
A second opinion from a centre that treats many similar cases is normal, not rude; the standard of care tells you what to compare it against.
Each row is a setting from the standard of care, in the order it usually arises. Not all will apply to you; your stage and biomarkers decide which do. The guideline grade, where recorded, says how strong the evidence is.
- 1.MEN2 carriers (RET-positive)American Thyroid Association medullary thyroid carcinoma guideline 2015
Prophylactic total thyroidectomy timed by ATA risk level (highest risk within the first year, high risk before age 5, moderate risk guided by calcitonin); annual screening for pheochromocytoma and hyperparathyroidism.
- 2.Advanced RET-mutant medullary thyroid carcinomaNCCN category Category 1 (selpercatinib), NCCN Thyroid Carcinoma
Selpercatinib (LIBRETTO-531: superior to cabozantinib or vandetanib); pralsetinib, cabozantinib or vandetanib as alternatives.
Surveillance from childhood; subtotal or total parathyroidectomy with autotransplantation for hyperparathyroidism; proton pump inhibitors for gastrinoma; resection of functioning or larger PanNETs; sporadic NET pathways (somatostatin analogues, everolimus, sunitinib, PRRT) for advanced disease.
Generated from this cancer's standard of care, biomarkers and open problems. Take the group that matches where you are. To tick, add your own and print, open the one-page appointment sheet.
Newly diagnosed
- What is my exact diagnosis, stage, and grade, and which tests established them?Everything else follows from an accurate stage and subtype.
- Which biomarkers have been tested on my tumour (for example Germline MEN1, RET or CDKN1B mutation, Calcitonin and CEA, Calcium and PTH, gastrin, fasting glucose and insulin, prolactin and IGF-1, Plasma metanephrines before any surgery, Pancreatic imaging), and what were the results?These results decide eligibility for targeted therapy, immunotherapy, and trials.
- Which subtype is my cancer, and does that change the recommended treatment?Recognised subtypes for this cancer include MEN1, MEN2A, MEN2B.
- Is germline (inherited) genetic testing recommended for me or my family?Inherited variants can change treatment and matter for relatives.
MEN2 carriers (RET-positive)
- For my situation (men2 carriers (ret-positive)), which of the standard options do you recommend and why?Guideline options include: Prophylactic total thyroidectomy timed by ATA risk level (highest risk within the first year, high risk before age 5, moderate risk guided by calcitonin); annual screening for pheochromocytoma and hyperparathyroidism.
Advanced RET-mutant medullary thyroid carcinoma
- For my situation (advanced ret-mutant medullary thyroid carcinoma), which of the standard options do you recommend and why?Guideline options include: Selpercatinib (LIBRETTO-531: superior to cabozantinib or vandetanib); pralsetinib, cabozantinib or vandetanib as alternatives.
- Am I a candidate for Selpercatinib, Pralsetinib, Cabozantinib or related drugs, and what side effects should I expect?Knowing the expected toxicities helps you plan work, family, and supportive care.
- How do the results of LIBRETTO-531 apply to someone like me?Trial populations differ from individual patients; ask how closely you match.
MEN1 carriers
- For my situation (men1 carriers), which of the standard options do you recommend and why?Guideline options include: Surveillance from childhood; subtotal or total parathyroidectomy with autotransplantation for hyperparathyroidism; proton pump inhibitors for gastrinoma; resection of functioning or larger PanNETs; sporadic NET pathways (somatostatin analogues, everolimus, sunitinib, PRRT) for advanced disease.
- Am I a candidate for Somatostatin analogues (octreotide, lanreotide), Everolimus, Sunitinib or related drugs, and what side effects should I expect?Knowing the expected toxicities helps you plan work, family, and supportive care.
Any stage
- Are there clinical trials I could join, for example of Selpercatinib, LIBRETTO-531, Lutetium-177 dotatate, Everolimus?Trials are how the next standard of care is set; asking early keeps options open.
- Would a second opinion at a high-volume centre change anything, and can you help arrange it?Rare or high-stakes decisions benefit from a centre that treats many similar patients.
- What supportive care (symptom control, nutrition, exercise, mental health, financial help) is available from the start?Supportive care improves quality of life and helps patients complete treatment.
- I read that “MEN1 has no menin-restoring or pathway-directed therapy; PanNET progression remains the main cause of death, addressed by earlier detection and NET therapies”. How does that affect my plan?Open problems are where trials and second opinions matter most.
- I read that “Timing and extent of pancreatic surgery in MEN1: prospective registries are comparing strategies”. How does that affect my plan?Open problems are where trials and second opinions matter most.
Much of what helps in the first weeks is free if you know to ask: testing, helplines, rides and lodging, second opinions, trial travel.
- Multiple endocrine neoplasia syndromes (MEN1, MEN2, MEN4): the full pageThe MEN syndromes are inherited faults in a single gene that cause tumours in several hormone glands over a lifetime. Because the gene can be found in childhood, at-risk relatives can be tested, watched and in MEN2 have the thyroid removed before cancer develops; and for MEN2 thyroid cancer that does spread there is now a precise pill, selpercatinib, that blocks the faulty RET protein.
- One-page appointment sheetYour questions, the words you may hear, what to bring, and space for the answers. Print it.
- Treatment sequencingWhich treatment tends to follow which, line by line.
- NavigatorStandard of care for your stage, what you have tried, and trials near you.
- MEN1 and hereditary neuroendocrine syndromes: Inherited conditions (MEN1, VHL, NF1, tuberous sclerosis) that cause neuroendocrine tumours, often multiple and at a young age, so families need genetic testing and surveillance.
- Germline vs somatic mutations: Germline mutations are inherited and in every cell; somatic mutations arise in the tumour only.
- Hereditary cancer syndromes: About 5-10% of cancers arise from an inherited gene fault.
Every term links to the glossary.