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01-03-2006 | Breast

Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations

Authors: Josep M. Sabaté, Antonio Gómez, Sofía Torrubia, Carme Blancas, Gloria Sánchez, M. C. Alonso, E. Lerma

Published in: European Radiology | Issue 3/2006

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.

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 11:1127–1141PubMedCrossRef

Lindor NM, Greene MH (1998) The complete handbook of family cancer syndromes. J Natl Cancer Inst 90:1039–1071PubMedCrossRef

Schweitzer S, Hogge JP, Grimes M, Bear HD, de Paredes ES (1999) Cowden disease: a cutaneous marker for increased risk of breast cancer. AJR 172:349–351PubMed

Ellisen LW, Haber DA (1998) Hereditary breast cancer. Annu Rev Med 49:425–436PubMedCrossRef

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 118:639–644PubMedCrossRef

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 29:47–53PubMedCrossRef

Lundin C, Mertens F (1998) Cytogenetics of breast lesions. Breast Cancer Res Treat 51:1–15PubMedCrossRef

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 15:722–731PubMedCrossRef

10.

Morris JA, Kelly JF (1982) Multiple bilateral breast adenomata in identical adolescent negro twins. Histopathology 6:539–547PubMedCrossRef

11.

Soo MS, Dash N, Bentley R, Lee LH, Nathan G (2000) Tubular adenomas of the breast: imaging findings with histologic correlation. AJR 174:757–761PubMed

12.

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 351:427–437PubMedCrossRef

13.

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 14:1647–1653PubMedCrossRef

14.

Huo Z, Giger ML, Olopade OI et al (2002) Computerized analysis of digitized mammograms of BRCA1 and BRCA2 gene mutation carriers. Radiology 225:519–526PubMedCrossRef

Title: Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations
Authors: Josep M. Sabaté
Antonio Gómez
Sofía Torrubia
Carme Blancas
Gloria Sánchez
M. C. Alonso
E. Lerma
Publication date: 01-03-2006
Publisher: Springer-Verlag
Published in: European Radiology / Issue 3/2006
Print ISSN: 0938-7994
Electronic ISSN: 1432-1084
DOI: https://doi.org/10.1007/s00330-005-2877-8

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Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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