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Case Reports in Radiology
Volume 2012 (2012), Article ID 638725, 4 pages
http://dx.doi.org/10.1155/2012/638725
Case Report

Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome

1Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands
2Department of Radiology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands
3Department of Pathology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands
4Department of Surgery, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands
5Department of Surgery, Orbis Medical Center Sittard-Geleen, P.O. Box 5500, 6130 MB Sittard, The Netherlands
6Department of Human Genetics, Radboud University Medical Center Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
7Division of Medical Oncology, Department of Internal Medicine, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands

Received 30 March 2012; Accepted 26 June 2012

Academic Editors: G. Bastarrika, K. Fujimoto, A. Hiwatashi, and A. Matsuno

Copyright © 2012 E. B. Gómez García et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized tumors that can develop in any of the above mentioned organs. The presence of massive calcifications in the breasts in very young women is an indication to perform a breast MRI to exclude a neoplasm since, like in the current case report, presence of breast calcifications may obscure a neoplasm. Although fibrocystic disease and cooccurrence of fibrocystic disease and breast cancer are much more common than CS, the presence of massive calcifications in the breasts of very young women should elicit the possibility of an underlying genetic disease. Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity. Fibrocystic disease of the breasts and multinodular goiter are minor criteria. Family history is also important for the diagnosis of (any) hereditary disease.