Overview
Multiple endocrine neoplasia type 2A (MEN2A), also known as Sipple syndrome, is a rare hereditary cancer syndrome characterized by the development of tumors in multiple endocrine glands. It is caused by activating germline mutations in the RET proto-oncogene located on chromosome 10q11.2. MEN2A is the most common subtype of MEN2, accounting for approximately 70–80% of all MEN2 cases. The hallmark feature of MEN2A is medullary thyroid carcinoma (MTC), which occurs in virtually all affected individuals and arises from the parafollicular C cells of the thyroid gland. Approximately 50% of patients develop pheochromocytoma, a tumor of the adrenal medulla that can cause episodic hypertension, headaches, palpitations, and sweating. About 20–30% of patients develop primary hyperparathyroidism due to parathyroid hyperplasia or adenomas, which can lead to elevated calcium levels, kidney stones, and bone loss. Some variants of MEN2A are also associated with cutaneous lichen amyloidosis (an itchy skin condition on the upper back) or Hirschsprung disease. Early genetic testing of at-risk family members is critical for management. Prophylactic thyroidectomy is recommended based on the specific RET mutation and its associated risk category, often performed in childhood to prevent the development or progression of MTC. Pheochromocytomas are managed surgically, typically with adrenalectomy, after appropriate alpha-adrenergic blockade. Hyperparathyroidism is treated with surgical removal of affected parathyroid glands. For advanced or metastatic MTC, targeted therapies such as the RET-specific kinase inhibitors selpercatinib and pralsetinib have become available and represent significant advances in treatment. Lifelong surveillance with serum calcitonin, carcinoembryonic antigen (CEA), and catecholamine measurements is essential for all affected individuals.
Also known as:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
3 eventsFujian Medical University
University of Colorado, Denver — PHASE1, PHASE2
University of Virginia — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Multiple endocrine neoplasia type 2A.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Multiple endocrine neoplasia type 2A at this time.
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Rare Disease Specialist
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Multiple endocrine neoplasia type 2A.
Community
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Start the conversation →Latest news about Multiple endocrine neoplasia type 2A
Disease timeline:
New recruiting trial: PrEPared to Choose (PtC) is an Implementation Study of the Delivery of Cabotegravir Long-acting, an Injectable Pre-exposure Prophylaxis (PrEP) Option for HIV Prevention. Injectable PrEP Will be Offered Alongside Oral and Vaginal Ring PrEP From Within a Real-world Context in Cape Town, South Africa.
A new clinical trial is recruiting patients for Multiple endocrine neoplasia type 2A
New recruiting trial: Study of RET Inhibitor TAS0953/HM06 in Patients With Advanced Solid Tumors With RET Gene Abnormalities
A new clinical trial is recruiting patients for Multiple endocrine neoplasia type 2A
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Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Multiple endocrine neoplasia type 2A
What is Multiple endocrine neoplasia type 2A?
Multiple endocrine neoplasia type 2A (MEN2A), also known as Sipple syndrome, is a rare hereditary cancer syndrome characterized by the development of tumors in multiple endocrine glands. It is caused by activating germline mutations in the RET proto-oncogene located on chromosome 10q11.2. MEN2A is the most common subtype of MEN2, accounting for approximately 70–80% of all MEN2 cases. The hallmark feature of MEN2A is medullary thyroid carcinoma (MTC), which occurs in virtually all affected individuals and arises from the parafollicular C cells of the thyroid gland. Approximately 50% of patient
How is Multiple endocrine neoplasia type 2A inherited?
Multiple endocrine neoplasia type 2A follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Multiple endocrine neoplasia type 2A?
5 specialists and care centers treating Multiple endocrine neoplasia type 2A are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.