Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome
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 tu...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Radiology |
| Online Access: | http://dx.doi.org/10.1155/2012/638725 |
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| author | E. B. Gómez García M. B. I. Lobbes K. van de Vijver K. Keymeulen F. van der Ent H. G. Yntema V. C. Tjan-Heijnen C. Boetes |
| author_facet | E. B. Gómez García M. B. I. Lobbes K. van de Vijver K. Keymeulen F. van der Ent H. G. Yntema V. C. Tjan-Heijnen C. Boetes |
| author_sort | E. B. Gómez García |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-4457536be757438691b47df22ae58343 |
| institution | Kabale University |
| issn | 2090-6862 2090-6870 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Radiology |
| spelling | doaj-art-4457536be757438691b47df22ae583432025-08-20T03:36:03ZengWileyCase Reports in Radiology2090-68622090-68702012-01-01201210.1155/2012/638725638725Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden SyndromeE. B. Gómez García0M. B. I. Lobbes1K. van de Vijver2K. Keymeulen3F. van der Ent4H. G. Yntema5V. C. Tjan-Heijnen6C. Boetes7Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ Maastricht, The NetherlandsDepartment of Radiology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ Maastricht, The NetherlandsDepartment of Pathology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ Maastricht, The NetherlandsDepartment of Surgery, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ Maastricht, The NetherlandsDepartment of Surgery, Orbis Medical Center Sittard-Geleen, P.O. Box 5500, 6130 MB Sittard, The NetherlandsDepartment of Human Genetics, Radboud University Medical Center Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The NetherlandsDivision 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 NetherlandsDepartment of Radiology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ Maastricht, The NetherlandsCowden 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.http://dx.doi.org/10.1155/2012/638725 |
| spellingShingle | E. B. Gómez García M. B. I. Lobbes K. van de Vijver K. Keymeulen F. van der Ent H. G. Yntema V. C. Tjan-Heijnen C. Boetes Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome Case Reports in Radiology |
| title | Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome |
| title_full | Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome |
| title_fullStr | Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome |
| title_full_unstemmed | Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome |
| title_short | Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome |
| title_sort | occult breast cancer due to multiple calcified hamartomas in a patient with cowden syndrome |
| url | http://dx.doi.org/10.1155/2012/638725 |
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