PMID- 34889280
OWN - NLM
STAT- MEDLINE
DCOM- 20220207
LR  - 20230103
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Print)
IS  - 0025-7974 (Linking)
VI  - 100
IP  - 49
DP  - 2021 Dec 10
TI  - A case report of multiple endocrine neoplasia type 1 and autoimmune disease: 
      Coincidence or correlation?
PG  - e28145
LID - 10.1097/MD.0000000000028145 [doi]
LID - e28145
AB  - 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.
CI  - Copyright (c) 2021 the Author(s). Published by Wolters Kluwer Health, Inc.
FAU - Chaves, Carolina
AU  - Chaves C
AUID- ORCID: 0000-0001-6566-3209
AD  - Servico de Endocrinologia e Nutricao, Hospital Divino Espirito Santo de Ponta 
      Delgada, Azores Islands, Portugal.
FAU - Nunes da Silva, Tiago
AU  - Nunes da Silva T
AD  - Servico de Endocrinologia, Instituto Portugues de Oncologia de Lisboa Francisco 
      Gentil, Lisbon, Portugal.
AD  - Unidade de Investigacao em Patobiologia Molecular (UIPM), Instituto Portugues de 
      Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal.
FAU - Dias Pereira, Bernardo
AU  - Dias Pereira B
AD  - Servico de Endocrinologia e Nutricao, Hospital Divino Espirito Santo de Ponta 
      Delgada, Azores Islands, Portugal.
FAU - Anselmo, Joao
AU  - Anselmo J
AD  - Servico de Endocrinologia e Nutricao, Hospital Divino Espirito Santo de Ponta 
      Delgada, Azores Islands, Portugal.
FAU - Claro, Isabel
AU  - Claro I
AD  - Servico de Gastroenterologia, Instituto Portugues de Oncologia de Lisboa 
      Francisco Gentil, Lisbon, Portugal.
FAU - Cavaco, Branca M
AU  - Cavaco BM
AD  - Unidade de Investigacao em Patobiologia Molecular (UIPM), Instituto Portugues de 
      Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal.
FAU - Saramago, Ana
AU  - Saramago A
AD  - Unidade de Investigacao em Patobiologia Molecular (UIPM), Instituto Portugues de 
      Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal.
FAU - Leite, Valeriano
AU  - Leite V
AD  - Servico de Endocrinologia, Instituto Portugues de Oncologia de Lisboa Francisco 
      Gentil, Lisbon, Portugal.
AD  - Unidade de Investigacao em Patobiologia Molecular (UIPM), Instituto Portugues de 
      Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal.
AD  - Nova Medical School, Lisbon, Portugal.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - Gastro-enteropancreatic neuroendocrine tumor
SB  - IM
MH  - *Autoimmune Diseases/complications
MH  - Autoimmunity
MH  - Female
MH  - Humans
MH  - Hyperparathyroidism, Primary/*complications/surgery
MH  - Intestinal Neoplasms
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*complications/genetics/surgery
MH  - Neuroendocrine Tumors
MH  - Pancreatic Neoplasms
MH  - Proto-Oncogene Proteins
MH  - Stomach Neoplasms
MH  - Thyroidectomy
PMC - PMC8663848
COIS- The authors have no conflicts of interest to disclose.
EDAT- 2021/12/11 06:00
MHDA- 2022/02/08 06:00
PMCR- 2021/12/10
CRDT- 2021/12/10 08:43
PHST- 2021/10/25 00:00 [received]
PHST- 2021/11/17 00:00 [accepted]
PHST- 2021/12/10 08:43 [entrez]
PHST- 2021/12/11 06:00 [pubmed]
PHST- 2022/02/08 06:00 [medline]
PHST- 2021/12/10 00:00 [pmc-release]
AID - 00005792-202112100-00061 [pii]
AID - MD-D-21-07181 [pii]
AID - 10.1097/MD.0000000000028145 [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2021 Dec 10;100(49):e28145. doi: 
      10.1097/MD.0000000000028145.