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.
Highlights
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer predisposition syndrome [1], caused by mutations in the MEN1 gene [2]
PET‐computed tomography B (CT) showed [1] a metabolically mildly active right breast lesion compatible with the proven right breast cancer, which was proven by an ultrasound-guided core needle biopsy [2] a metabolically mildly active left thyroid lesion, which was suspicious for thyroid cancer, [3] a metabolically active prevascular nodal lesion, [4] metabolically active upper abdominal nodal lesions, which were suspicious for metastatic nodal lesions or a primary pancreas tail mass [4], [5] suspicious left adrenal metastasis and [6] mild endometrial uptake, which was suspicious for myoma or endometrial malignancy
A polymorphism of the MEN1 gene was detected at codon 423 in exon 10 of the MEN1 gene, with substitution of a cytidine to a thymidine (C423T), which did not cause a change of amino acid
Summary
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer predisposition syndrome [1], caused by mutations in the MEN1 gene [2]. The patient exhibited major clinical manifestations of MEN1, such as primary hyperparathyroidism, pituitary adenoma and pancreatic endocrine carcinoma together with other tumors, including adrenocortical adenoma, a thymic carcinoid tumor, papillary thyroid carcinoma, uterine leiomyoma, lung hamatoma and breast cancer. PET‐CT showed [1] a metabolically mildly active right breast lesion compatible with the proven right breast cancer, which was proven by an ultrasound-guided core needle biopsy [2] a metabolically mildly active left thyroid lesion, which was suspicious for thyroid cancer, [3] a metabolically active prevascular (ascending paraaortic) nodal lesion, [4] metabolically active upper abdominal nodal lesions (left gastric lymph node and adjacent to hepatic and splenic artery), which were suspicious for metastatic nodal lesions or a primary pancreas tail mass [4], [5] suspicious left adrenal metastasis and [6] mild endometrial uptake, which was suspicious for myoma or endometrial malignancy. BRCA1 and BRCA2 genetic testing was performed to determine the association between gene mutations and the development of other tumors, including breast cancer. DNA sequencing was performed on the pretreated PCR product using an automated direct sequence analyzer (ABI PRISM 3100 Genetic Analyzer; Applied Biosystems, Foster City, CA, USA)
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