Incidental finding of MEN-1 syndrome during staging and follow-up of breast carcinoma

Abstract

Type 1 multiple endocrine neoplasia (MEN-1) syndrome is an autosomal dominant disease, associated with germline mutations in the MEN-1 tumour suppressor gene (encoding the menin protein). Recent studies, through a better characterisation of the functions of the menin protein, have started to demonstrate how changes in this protein may be related to breast cancer. We present the case of a patient whose diagnosis of MEN-1 syndrome was made during treatment for a breast tumour-this diagnosis was obtained after finding multiple neoplastic lesions that fitted the MEN-1 syndrome spectrum, during the initial staging and subsequent follow-up of a breast tumour. In line with the growing evidence that links MEN-1 syndrome to breast cancer tumorigenesis, this case report highlights the following question: should we start screening this subset of patients earlier for breast cancer?

Keywords: breast cancer; breast surgery; cancer intervention.

Figure 1

Mammography—nodular area in the upper-internal quadrant of the left breast.

Figure 2

Breast ultrasound—33×21.3 mm nodular area in the upper-internal quadrant of the left breast.

Figure 3

Breast MRI, T1-weighted—nodular area of 30×25 mm with irregular morphology and borders and heterogeneous contrast enhancement.

Figure 4

Thoracic CT with intravenous contrast—10 mm nodular lesion in the upper lobe of the right lung.

Figure 5

Cervical ultrasound—hypoechogenic solid oval lesion inferior to the left thyroid lobe, 23×12 mm.

Figure 6

Ductal carcinoma ‘in situ’ with cribriform pattern and invasive carcinoma NST (no special type) (H&E, 200×).

Figure 7

Pulmonary tumour (A, H&E, 20×) with an organoid pattern (B, H&E 100×) composed of cells with vast eosinophilic cytoplasm and round-to-oval nuclei with ‘salt and pepper’ chromatin; no necrosis was found, and the mitotic count was 2 mitoses/10 high-power field; the neoplastic cells are positive to neuroendocrine markers: (D) CK8/18, 400×, (E) synaptophysin, 200× and (F) CD56, 400×.

Figure 8

A thyroid nodule (A, H&E, 20×; interface between thyroid parenchyma and the nodule—B, H&E, 100×) that is compatible with hyperplastic/adenomatous parathyroid tissue (C, H&E and D, parathyroid hormone, 200×).

Figure 9

Abdominal CT with oral and intravenous contrast—neuroendocrine tumour of the pancreatic tail.

Figure 10

Cervical ultrasound—solid hypoechogenic lesion, slightly heterogeneous and vascularised, with dimensions of 12×10 mm, in the posterior aspect of the right lobe of the thyroid gland—intraparenchymal parathyroid adenoma.