ECE2014 Poster Presentations Clinical case reports Thyroid/Others (72 abstracts)
Breast cancer in multiple endocrine neoplasia type 1
Valentina Elezovic , Milan Petakov , Djuro Macut , Sanja Ognjanovic , Tatjana Isailovic , Ivana Milicevic , Bojana Popovic , Ivana Bozic Antic , Tamara Bogavac , Dusan Ilic & Svetozar Damjanovic
Clinic of Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of Serbia, Belgrade, Serbia.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant familial tumor syndrome characterised by varying combinations of endocrine and non-endocrine tumors. Breast cancer is the most frequently diagnosed cancer in women, but presence of breast cancer in MEN1 is extremely rare.
A 36-year-old patient has been diagnosed with primary hyperparathyroidism, breast cancer and hyperprolactinemia due to a pituitary macroprolactinoma. Treatment with cabergoline was started and partial tumor regression was observed. In September 2012, partial parathyroidectomy, left breast quadrantectomy with axillary dissection and lipoma removal were preformed. Pathohistology finding revealed parathyroid adenoma and invasive ductal lobular breast cancer (GII, NII, ER7 (35%), PR (60%), HER2 1+, Ki67-10%). She continuated treatment with radiotherapy, chemotherapy (anthracyclines and docetaxel) and antagonist of the estrogen receptor (tamoxiphen) and so far she is in remission.
Abdominal MSCT scan showed micronodular adrenal hyperplasia which has proven to be biochemically nonfunctioning. Endoscopic pancreatic ultrasound and tumor markers were normal. Patient’s father died at 65 due to pancreatic cancer. Owing to high suspicion to MEN1, genetic screening was preformed and germline mutation was detected in menin gene (1649 insC). LOH in tumor tissues (parathyroid gland and breast) is in course. Screening for BRCA1/2 was advised. Primary hyperparathyroidism still remains indicating the presence of multiglandular disease and total parathyroidectomy is planned. Plasma chromogranin A level is increased.
We presented a patient with MEN1 and breast cancer. Owing to our knowledge, Honda et al. described a MEN1 patient with parathyroid adenoma and breast cancer, lacking a family history. A germline MEN1 mutation was detected, as well as LOH at 11q13 in both tumors. The authors suggested that the clinical spectrum of MEN1 might also include breast cancer.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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