Comprehensive treatment of rare multiple endocrine neoplasia type 1: A case report

Abstract

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary disorder caused by mutations of the MEN1 gene. It is characterized by hyperparathyroidism and involves the pancreas, anterior pituitary, duodenum, and adrenal gland. Here, we report a 40-year-old male patient with MEN1 who first manifested as thymic carcinoid, then primary hyperparathyroidism and prolactinoma, and a decade later pancreatic neuroendocrine tumor.

Case summary: The patient underwent a thymectomy because of the thymic carcinoid 10 years prior and a prolactinoma resection 2 years prior. His sister suffered from prolactinoma. His parents displayed a typical triad of amenorrhea, galactorrhea, and infertility. Computed tomography revealed a strong signal in the upper portion of the left lobes and posterior portion of the right lobes of the thyroid and irregular soft tissue densities of the pancreatic body. Positron emission tomography/computed tomography imaging further showed strong ¹⁸F-flurodeoxyglucose uptake in the tail of the pancreatic body and segment IV of the liver. The patient underwent pancreatic body tail resection, pancreatic head mass enucleation, and ultrasound-guided radio-frequency ablation for liver cancer. Pathology results reported neuroendocrine tumor grade 2. Whole exome sequencing revealed a verified pathogenic mutation c.378G>A (p.Trp126*) in the MEN1 gene. The diagnosis of MEN1 was confirmed. At the 1.5-year follow-up, the patient appeared healthy without any sign of reoccurrence.

Conclusion: The present case may add some insight into the diagnosis and treatment of patients with MEN1.

Keywords: Case report; Multiple endocrine neoplasia type 1; Neuroendocrine tumor; Pancreas; Thymic carcinoid; Tumor.

Figure 1

Computed tomography examination. A: Parathyroid two-phase computed tomography revealed a strong signal in the upper part of the left lobes and posterior part of the right lobes of the thyroid; B: Pancreatic perfusion computed tomography imaging revealed irregular soft tissue densities of the pancreas body, which were localized around the stomach wall.

Figure 2

resonance imaging (MRI) examination revealed multiple abnormal signals in the liver segment II, segment VIII, and the junction area of liver segment II and IV as well as occupied lesions in the tail of the pancreatic body; B: Enhanced MRI revealed occupied lesions in the body and tail of the pancreas; C: Enhanced MRI revealed that the liver segment IV was occupied, suggesting the possibility of angiomyolipoma. There were also small cysts in segments II and VIII of the liver and occupied lesions in the tail of the pancreatic body.

Figure 3

Positron emission tomography/computed tomography examination. A, B, D and E: Hypermetabolic lesions in the lungs (A), intrahepatic segment IV (B), and the body (D) and tail (E) of the pancreas; C: No metabolic round nodules in the anterior pancreas; F: Diffusely increased metabolism in the stomach wall.

Figure 4

Pathological examination. Hematoxylin & eosin staining showed (magnification, 40 ×; 100 ×) multiple nodules next to the pancreatic tumor, in the pancreatic tissue around the pancreatic body, and next to the pancreatic tail. Immunohistochemistry showed (magnification, 40 ×; 100 ×) CKpan (+), synaptophysin (+), chromogranin A (+), partial CD56 (+), p53 (-), partial PGP9.5 (+), partial SSTR2 (+), CD10 (-), partial vimentin (+) in pancreas tissues, and CKpan (+), Syn (+), CgA (+), partial CD56 (+), p53 (-), and PGP9.5 (+) in liver tissues. Bar, 100 μm. Syn: Synaptophysin; CgA: Chromogranin A.