Multiple endocrine neoplasia type 1 associated with breast cancer: A case report and review of the literature

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is a cancer predisposition syndrome that includes a combination of endocrine and non-endocrine tumors. The present study reports a rare case of MEN1 associated with breast cancer with the MEN1 gene mutation. A 45-year-old female was diagnosed with breast cancer subsequent to presenting with a right breast mass. Pre-operative radiological studies indicated right breast cancer with a suspicious metastatic nodule of the lung. Further studies demonstrated bilateral thyroid nodules, a neuroendocrine tumor of the pancreas, paraganglioma, a left adrenal adenoma, gallstones, uterine subserosal myoma and pituitary macroadenoma. Laboratory examinations revealed hypercalcemia, hypophosphatemia and an increased intact parathyroid hormone level. The workup for the suspected MEN syndrome revealed an increased basal plasma level of insulin-like growth factor-1, prolactin and calcitonin, and an increased 24-h urinary free cortisol level. The patient underwent surgical removal of the breast cancer and the tumors of the pancreas, adrenal gland, thyroid and parathyroid glands, uterus, anterior mediastinum and lung. The pathological diagnosis of the resected breast was of invasive ductal carcinoma. Otherwise the pathological diagnosis was of calcitonin-producing pancreatic endocrine carcinoma, adrenal cortical adenoma, bilateral papillary thyroid carcinomas, parathyroid adenomas, uterine leiomyoma with adenomyosis, a thymic carcinoid tumor and lung hamatoma. Gene analysis was performed to determine the association between gene mutations and the development of tumors in this patient, and a germ-line MEN1 gene mutation was consequently detected. It could be assumed that MEN1 syndrome may have possibly predisposed the present patient to breast cancer. However, additional observations and further studies are required to demonstrate this association.

Primary thyroid paraganglioma mimicking medullary thyroid carcinoma: A case report

“…Surgery is generally the recommended treatment method, and few cases involving local recurrence or metastasis following surgical mass excision have been reported. In certain cases, TP can mimic medullary thyroid carcinoma (MTC) (4)(5)(6)(7)(8). MTC arises from parafollicular cells and exhibits similar microscopic features to TP, with a nesting or organoid pattern of growth under histological examination (7).…”

Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1

“…Several cases of other endocrine or non-endocrine malignant diseases concomitant with MEN1, such as papillary thyroid carcinoma and ductal breast carcinoma, have also been reported [3], [4]. However, MEN1 patients who exhibit primary lung cancer have not been described in the literature.…”

15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas

“…Only four cases of co-existing phaeo/PGL and PA have been reported in patients with MEN1 mutations (Table 1; Dackiw et al 1999, Langer et al 2002, Jeong et al 2014 Dénes et al 2015); three had a phaeo, one had an abdominal PGL. Loss of heterozygosity at the MEN1 locus combined with absent menin staining in the phaeo sample was demonstrated in one of these cases ( Fig.…”