Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome
| Autor: | Helger G. Yntema, Carla Boetes, Marc B. I. Lobbes, K.K. Van de Vijver, Vivianne C. G. Tjan-Heijnen, E. B. Gomez Garcia, F. van der Ent, Kristien Keymeulen |
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| Přispěvatelé: | RS: NUTRIM - R2 - Gut-liver homeostasis, Klinische Genetica, Pathologie, Surgery, Interne Geneeskunde |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
lcsh:Medical physics. Medical radiology. Nuclear medicine
Pathology medicine.medical_specialty medicine.diagnostic_test business.industry lcsh:R895-920 Thyroid Macrocephaly Case Report General Medicine Cowden syndrome Disease medicine.disease Occult Genomic disorders and inherited multi-system disorders [IGMD 3] Breast cancer medicine.anatomical_structure medicine Breast MRI Family history medicine.symptom business skin and connective tissue diseases |
| Zdroj: | Case Reports in Radiology, ID 638725. Hindawi Publishing Corporation Case Reports in Radiology Case Reports in Radiology, 2012, pp. 638725-638725 Case Reports in Radiology, Vol 2012 (2012) Case Reports in Radiology, 2012, 638725-638725 |
| ISSN: | 2090-6862 2090-6870 |
| Popis: | Contains fulltext : 108891.pdf (Publisher’s version ) (Open Access) 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. |
| Databáze: | OpenAIRE |
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