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A case report of multiple endocrine neoplasia type 1 and autoimmune disease: Coincidence or correlation?
Carolina Chaves1, Tiago Nunes da Silva2,3, Bernardo Dias Pereira1
1Serviço de Endocrinologia e Nutrição, Hospital Divino Espírito Santo de Ponta Delgada, Azores Islands, Portugal.
Rationale:
Multiple Endocrine Neoplasia type 1 (MEN1) is a familial syndrome that results from the disruption of a tumor suppressor protein called MENIN. Its management is challenging, as MEN1 affects different endocrine tissues and predisposes to both benign and malignant tumors. MENIN-deficient cells have recently been recognized to play a role in triggering autoimmunity. Herein, we present a case of MEN1 with multiple endocrine and autoimmune disorders.
Patient Concerns:
A 50 years old female with a 25 years history of complicated nephrolithiasis presented with primary hyperparathyroidism.
Diagnoses:
Over several decades, she was diagnosed with recurrent primary hyperparathyroidism, autoimmune thyroiditis, multinodular goiter, pernicious anemia, metastatic gastric type 1 neuroendocrine tumor, macroprolactinemia, gonadotropin deficiency, mucosa-associated lymphoid tissue lymphoma of the thyroid gland, positive anti-calcium sensor receptor antibodies, and BRCA 1/2-negative invasive breast cancer. The autoimmune regulator gene was sequenced, but no pathogenic variants were found. Next-generation sequencing revealed both a pathogenic MEN1 mutation and a benign CDC73 gene variant. Familial genetic screening revealed a large kindred with multiple carriers of one or both genetic variants (MEN1 = 19; CDC73 = 7).
Interventions:
The patient underwent surgical excision of three parathyroid glands, total thyroidectomy and breast tumorectomy plus tamoxifen, and monthly injections of octreotide. The patient and family members with the MEN1 mutation are under a life-long surveillance program for MEN1 prototypic tumors.
Outcomes:
The patient was stable and alive during a 24-years follow-up period.
Lessons:
With the present case, the authors highlight a new interplay between MENIN and the immune system, which may have implications for future targeted life-long surveillance and treatment of MEN1 patients.
Insights
Multiple Endocrine Neoplasia type 1 (MEN1) is linked to autoimmune disorders. This case highlights the interplay between MENIN and immunity, impacting surveillance and treatment for MEN1 patients.
Area of Science:
- Endocrinology
- Genetics
- Immunology
Background:
- Multiple Endocrine Neoplasia type 1 (MEN1) is an inherited syndrome caused by MENIN tumor suppressor gene disruption.
- MEN1 management is complex due to its effects on multiple endocrine glands and predisposition to various tumors.
- Emerging evidence suggests MENIN-deficient cells may trigger autoimmune responses.
Observation:
- A 50-year-old female with a history of nephrolithiasis presented with primary hyperparathyroidism.
- Over decades, she developed recurrent hyperparathyroidism, autoimmune thyroiditis, gastric neuroendocrine tumor, and breast cancer.
- Genetic testing revealed a pathogenic MEN1 mutation and a benign CDC73 variant, with familial screening identifying multiple carriers.
Findings:
- The patient underwent parathyroidectomy, thyroidectomy, and breast tumor treatment.
- She received octreotide injections and is enrolled in a lifelong surveillance program.
- The patient remained stable with a 24-year follow-up.
Implications:
- This case underscores a novel connection between MENIN and the immune system.
- Understanding this interplay may lead to improved, targeted surveillance strategies for MEN1.
- Future treatments for MEN1 patients could incorporate immunomodulatory approaches.
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