Multiple endocrine neoplasia type 1 with Zollinger–Ellison syndrome: clinicopathological analysis of a Japanese family with focus on menin immunohistochemistry

Frontiers in Endocrinology · 9 authors, 9 centres

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This is a case report analyzing a Japanese family with MEN1 and Zollinger-Ellison syndrome, focusing on treatment outcomes and tumor pathology. The central result is that pancreaticoduodenectomy cured ZES in one patient, while two others without it had persistent ZES, and two patients died from pulmonary NETs.

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The study presents a clinicopathological analysis of a three-member Japanese family with MEN1 and Zollinger-Ellison syndrome (ZES), all harboring a germline MEN1 mutation. Central results showed that the patient who underwent pancreaticoduodenectomy was cured of ZES, whereas the two who did not have the procedure had persistent ZES despite octreotide treatment. Two patients died from pulmonary NET G2. Menin IHC showed variable staining intensity from positive to negative. The findings suggest pancreaticoduodenectomy is effective for ZES and that pulmonary NET G2 carries a poor prognosis requiring long-term follow-up. The variability in menin IHC may relate to tumor formation patterns rather than diagnostic utility.

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case_report

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endocrinology

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ORIGINAL PAPER

PMC10588651

Multiple endocrine neoplasia type 1 with Zollinger–Ellison syndrome: clinicopathological analysis of a Japanese family with focus on menin immunohistochemistry

Frontiers in Endocrinology

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ABSTRACT

Background Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of multiple epithelial neuroendocrine tumors (NETs) and non-NETs in various organs. MEN1 encodes a 610-amino acid-long tumor suppressor protein, menin. The optimal treatment for multiple tumors, identification of the most critical tumors for patient prognosis, and menin immunohistochemistry findings remain controversial. Therefore, we aimed to elucidate these issues through a histological analysis of tumors and tumor-like lesions in a Japanese family, comprising a father and his two sons, who had MEN1 with Zollinger–Ellison syndrome (ZES). Patients and methods All family members had a germline alteration in exon 10, c.1714-1715 del TC of MEN1 , and exhibited multiple synchronous and metachronous tumors. The patients had pulmonary NETs, hyperparathyroidism, hypergastrinemia, pituitary adenomas, pancreaticoduodenal NETs, adrenocortical adenoma with myelolipoma, nodular goiter of the thyroid, lipomas, and angiofibroma. Most tumors were resected and histologically examined. We compared their clinical courses and tumor histology, and conducted menin immunohistochemistry (IHC). Results Two patients died of pulmonary NET G2. One patient who underwent pancreaticoduodenectomy was cured of ZES; however, the two other patients who did not undergo pancreaticoduodenectomy suffered persistent ZES despite treatment with octreotide. Menin IHC revealed varying NET intensities, ranging from positive to negative stains. Conclusion Pancreaticoduodenectomy is the most effective treatment for ZES. Long-term follow-up is essential for pulmonary NET G2 owing to the risk of distant metastasis and/or multiplicity. Moreover, the variability of menin IHC in MEN1-related tumors may indicate the pattern of tumor formation rather than the diagnostic utility of menin in MEN1.

CITATION EXPORT

Noriko Kimura, Yasuji Hirata, Nozomu Iwashiro et al.. Multiple endocrine neoplasia type 1 with Zollinger–Ellison syndrome: clinicopathological analysis of a Japanese family with focus on menin immunohistochemistry. Frontiers in Endocrinology. (2023). https://doi.org/10.3389/fendo.2023.1221514

AUTHORS

9 · 9 CENTRES

Noriko Kimura, Yasuji Hirata, Nozomu Iwashiro, Hiroshi Kijima, Shinobu Takayasu, Satoshi Yamagata, Satoru Sakihara, Shinya Uchino, Masanori Ohara

1 Department of Clinical Research, National Hospital Organization Hakodate Hospital, Hakodate, Hokkaido, Japan
2 Department of Diagnostic Pathology, National Hospital Organization Hakodate Hospital, Hakodate, Hokkaido, Japan
3 Department of Hematology and Oncology, National Hospital Organization Hakodate Hospital, Hakodate, Hokkaido, Japan
4 Department of Surgery, National Hospital Organization Hakodate Hospital, Hakodate, Hokkaido, Japan
5 Department of Pathology, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan
6 Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine and Hospital, Hirosaki, Aomori, Japan
7 Institute of Human Nutrition, Columbia University Irving Medical Center, New York, NY, United States
8 Division of Diabetes and Endocrinology, Aomori Rosai Hospital, Aomori, Japan
9 Department of Endocrine Surgery, Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Oita, Japan