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Cowden syndrome ( CS) is a multi-system disease that carries an increased lifetime risk of developing certain cancers as well as benign neoplasms. The presence of features of CS in the general unaffected population results in difficulties in the recognition and diagnosis of this condition. Early diagnosis is essential to prevent the development of malignant neoplasms, yet despite the introduction of diagnostic criteria and risk calculators, accurate diagnosis remains a challenge. We identified three patients who presented to the symptomatic breast unit of a University Teaching Hospital over a period of 12 weeks who subsequently were diagnosed with CS. In this article, we discuss their clinical presentations as well as their path to diagnosis. The short timeframe between the presentations of these patients undoubtedly expedited their diagnosis. Upon application of internationally recognized diagnostic criteria, only two out of our three patients were accurately diagnosed. The risk of breast cancer in CS is comparable with that found in Hereditary Breast and Ovarian Cancer Syndrome and while a protocol for breast screening in these patients exists in most centres, no such protocol exists for patients with CS in our institution. The recommended cancer surveillance programs for patients with CS have not been found to prolong survival, however. CS consists of a vast array of diseases that span the various specialties and the subsequent varied phenotypic presentation poses diagnostic difficulties for clinicians as emphasized in our series. Continued research is required to improve recognition and diagnosis and will hopefully result in the emergence of life prolonging strategies. [ABSTRACT FROM AUTHOR]

Introduction: Lobular neoplasia is a term encompassing both atypical lobular hyperplasia and lobular carcinoma in situ. These pathological findings are of uncertain malignant potential and predispose to a higher lifetime risk of breast cancer. Debate surrounds the management of such lesions, with the rationale for diagnostic excision based on the possibility of upgrading to malignancy. In this study, we report the upgrade rate of these lesions and risk of subsequent development of breast cancer. Methods: This is a retrospective review of a prospectively maintained data base of all biopsies of breast screening‐detected abnormalities in a single Irish breast‐screening unit. We included all patients with lobular neoplasia on core needle biopsy who underwent diagnostic excision from 2005 to 2012. We excluded those who had concurrent high‐risk lesions on biopsy. End points included upgrade rate and subsequent diagnosis of malignancy on follow‐up. Results: During the study period, 66 patients met criteria for inclusion, with a mean age of 53.74 years. Upgrade rate following excision was 13.64% (n = 9/66). Of those not upgraded, 7.02% (n = 4/57) were subsequently diagnosed with malignancy. Median time to diagnosis was 59.61 months (range = 10.5‐124.4). Conclusion: There is a significant rate of upgrade following diagnostic excision of lobular neoplasia, supporting the practice of diagnostic excision. There is an increased lifetime risk of breast cancer for women with a diagnosis of lobular neoplasia, with many of these cancers occurring outside the standard five‐year monitoring period, suggesting a potential benefit in extending surveillance. [ABSTRACT FROM AUTHOR]