The present study was approved by the Institutional Ethics Committee of the First Hospital of Jilin University. The patient provided written consent to publish the case. The patient was a 35-year-old woman who presented with a neck mass 4 days after physical examination, without complaining about abnormal feelings due to high calcium and parathyroid hormone. The patient immediately came to our hospital after discovery of the neck tumor, without any intervention measures. Partial resection of the pancreas and stomach had been performed for pancreatic gastroduodenal neuroendocrine tumor 4 years ago. The patient had a history of pituitary microadenoma for 2 years. Her father had stomach surgery, but we do not know the details since he died 20 years ago. Other relatives of the patient had no symptoms of MEN1 syndrome. Neck ultrasound suggested a 64 mm × 28 mm × 45 mm cystic mass located below the right lobe of the thyroid gland with a well-defined smooth border and several solid nodules were detected in right thyroid lobe, with the largest (18 mm × 10 mm × 8 mm) in the right lower thyroid lobe. The largest nodule in the thyroid had an unclear boundary, dotted calcification and abundant internal blood flow (Fig. 1A and B). Computed tomography (CT) or magnetic resonance imaging (MRI) examination showed: head: changes in pituitary region; neck: lesions in thyroid gland right lobe and superior mediastinum; and abdomen: changes after partial gastrectomy and in the tail of the pancreas (Fig. 2A–D). In 99mTc-methoxyisobutyl isonitrile scintigraphy, tracer uptake was increased in the right lower region of the thyroid gland and mediastinum, and images showed no abnormal retention of the tracer in the late phase. No uptake was detected in other regions. Preoperative sestamibi single-photon emission computed tomography (SPECT)/CT found a lesion in the lower thyroid gland right lobe and part of which extended to the superior mediastinum (Fig. 3A). Bone scanning showed: T-scores −2.6 and Z-scores −2.0. The results of biochemical tests were as follows: serum calcium 2.82 mmol/L (reference range: 2.11–2.52 mmol/L); albumin 47.7 g/L (reference range: 40–55 g/L); serum intact parathyroid hormone (iPTH) elevated to 676.3 pg/mL (reference range: 12–88 pg/mL); gastrin 17: 0.8 pmol/L (reference range: 1–15 pmol/L); normal thyroid function normal; thyroid peroxidase antibody (TPO Ab): 23.98 IU/ml (reference range: <35 IU/ml).
Because the patient had a large neck mass, her serum calcium and iPTH levels were significantly abnormal and several solid nodules were detected in the right thyroid lobe (the largest nodules were suspected to be malignant by ultrasound and rapid intraoperative pathological diagnosis confirmed PTC). Parathyroidectomy and unilateral thyroid lobectomy were recommended and performed with the patient’s consent. The clinical features of hyperparathyroidism (HPT) with MEN1 are similar to those with sporadic HPT, but the formers are often more aggressive. For patients who have HPT with MEN1, it is better to have early surgical treatment. Asymptomatic patients should consider surgical treatment when (1) serum calcium is higher than the reference range 2.52 mmol/L; (2) glomerular filtration < 60 ml/min; (3) bone mineral density at any point is −2.5 or lower, or patient has fragility fractures; and (4) age < 50 years. Whether early surgery can reduce the incidence rate and mortality is not clear. For patients who have HPT with MEN1, especially in asymptomatic or mild and young patients, early parathyroidectomy can reduce the long-term effects of HPT, especially in reducing bone loss. Although fine needle aspiration (FNA) is the most useful means for diagnosis of a thyroid nodule, it is not generally accepted for diagnosis of parathyroid tumor due to the risk of dissemination of parathyroid cells, especially in parathyroid cancer. What’s more, the patient refused to accept FNA of the thyroid nodule before the operation to avoid additional injury and hope to perform rapid intraoperative pathological diagnosis with parathyroid. During the operation, gross examination of the largest cyst showed it to be partially surrounded and contiguous with the right lower thyroid lobe and extended to the superior mediastinum, and it peeled off easily from the right lower thyroid lobe and mediastinum. Furthermore, it was filled with clear watery fluid, suggesting that it was a parathyroid cyst (Fig. 3B). The largest cyst and right lobe of the thyroid were removed. The left lower parathyroid gland was explored during the operation and was diagnosed with hyperplasia after resection. Intraoperative frozen section pathology reported that the largest cyst was the source of parathyroid and papillary thyroid carcinoma, and nodular goiter was found in the thyroid right lobe, and the left lower parathyroid was diagnosed with adenomatoid hyperplasia. The central lymph nodes were cleared (4/5 with cancer metastasis). We tested serum iPTH at 20 min after resection and iPTH was 253.4 pg/mL. Other parathyroid glands were explored. Two upper parathyroid glands were normal. The left lower parathyroid was enlarged and removed. Rapid intraoperative pathological analysis revealed was adenomatoid hyperplasia. After another 20 min, serum iPTH decreased to 63.9 pg/mL. The postoperative pathological results were consistent with the rapid intraoperative pathological results (Fig. 4). The laboratory data on postoperative day 2 showed calcium was 1.98 mmol/L and iPTH was 24.1 pg/ml. After taking 1.5 g calcium carbonate daily for 3 months, the patient’s laboratory data improved, as follows: calcium 1.98 mmol/L and iPTH 43.7 pg/ml. Calcium was 2.47 mmol/L and iPTH was 61 pg/ml after 18 months. After the operation, genetic analysis was performed to determine the association between gene mutations and the development of tumors in this patient, and a germline MEN1 gene mutation was detected. The patient gave informed consent and the Institutional Review Board approved the present study before genetic analysis. During follow-up, there was no hypoparathyroidism or other complications. One month after the operation, the demand for levothyroxine was reduced from 75 to 50 µg.