Abstract
We describe the clinical, radiological, and pathological findings of the diverse benign and malignant breast neoplasms found in association with Cowden syndrome. Patients with Cowden syndrome had a substantially increased risk of breast carcinoma. We find that 33% of the patients in our study population with Cowden disease have developed breast carcinoma to date. An association between Cowden disease and multiple tubular adenomas or breast hamartomas was found in two patients, suggesting a genetic origin. PTEN germ-line mutations were found in all four patients presenting with relevant benign or malignant breast pathology. We also assess the value of specific diagnostic tools used in the surveillance management. Screening mammography was useful in the diagnosis of small, high-grade carcinomas.
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References
Mallory SB (1995) Cowden syndrome (multiple hamartoma syndrome). Dermatol Clinics 13:27–31
Starink TM (1984) Cowden’s disease: analysis of fourteen new cases. J Am Acad Dermatol 11:1127–1141
Lindor NM, Greene MH (1998) The complete handbook of family cancer syndromes. J Natl Cancer Inst 90:1039–1071
Schweitzer S, Hogge JP, Grimes M, Bear HD, de Paredes ES (1999) Cowden disease: a cutaneous marker for increased risk of breast cancer. AJR 172:349–351
Ellisen LW, Haber DA (1998) Hereditary breast cancer. Annu Rev Med 49:425–436
Bussaglia E, Pujol RM, Gil MJ et al (2002) PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome. J Invest Dermatol 118:639–644
Schrager CA, Schneider D, Gruener AC, Tsou HC, Peacocke M (1998) Clinical and pathological features of breast disease in Cowden’s syndrome: an underrecognized syndrome with an increased risk of breast cancer. Hum Pathol 29:47–53
Lundin C, Mertens F (1998) Cytogenetics of breast lesions. Breast Cancer Res Treat 51:1–15
Carney JA, Toorkey BC (1991) Ductal adenoma of the breast with tubular features: a probable component of the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. Am J Surg Pathol 15:722–731
Morris JA, Kelly JF (1982) Multiple bilateral breast adenomata in identical adolescent negro twins. Histopathology 6:539–547
Soo MS, Dash N, Bentley R, Lee LH, Nathan G (2000) Tubular adenomas of the breast: imaging findings with histologic correlation. AJR 174:757–761
Kriege M, Brekelmans CTM, Boetes C et al (2004) Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 351:427–437
Kaas R, Kroger R, Hendriks JHCL et al (2004) The significance of circumscribed malignant mammographic masses in the surveillance of BRCA 1/2 gene mutation carriers. Eur Radiol 14:1647–1653
Huo Z, Giger ML, Olopade OI et al (2002) Computerized analysis of digitized mammograms of BRCA1 and BRCA2 gene mutation carriers. Radiology 225:519–526
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Sabaté, J.M., Gómez, A., Torrubia, S. et al. Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations. Eur Radiol 16, 702–706 (2006). https://doi.org/10.1007/s00330-005-2877-8
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DOI: https://doi.org/10.1007/s00330-005-2877-8