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Paget's disease, mammary — Clinical Guidelines

Overview

Paget's disease in the context of mammary disorders primarily refers to mammary intraepithelial neoplasia or atypical ductal hyperplasia, though the provided abstracts focus more on genetic syndromes (Ulnar Mammary syndrome) and mammary tumors (hibernoma, hamartoma) rather than the classic Paget's disease of the nipple. The abstracts highlight genetic underpinnings and rare mammary pathologies.

Diagnosis

Genetic Testing: Mutation analysis of TBX3 for Ulnar Mammary syndrome 1.

Imaging: Brain imaging recommended for individuals with Ulnar Mammary syndrome due to potential pituitary and cardiac abnormalities 1.

Histopathology: Mammary hibernoma diagnosed through histopathological examination 5.

Xeromammography: Useful for diagnosing mammary hamartoma preoperatively 8.

Management

Monitoring and Screening: Regular cardiac arrhythmia screening and growth hormone testing for patients with Ulnar Mammary syndrome 1.

Surgical Intervention: Surgical excision for confirmed cases of mammary hibernoma and hamartoma 5 8.

Special Populations

Pregnancy: No specific recommendations provided in the abstracts.

Pediatrics: Ulnar Mammary syndrome can present in pediatric populations with variable expressivity 1.

Elderly: No specific considerations mentioned for elderly patients in the provided abstracts.

Comorbidities: Cardiac conduction defects and pituitary abnormalities should be monitored in patients with Ulnar Mammary syndrome 1.

Key Recommendations

Offer brain imaging, growth hormone testing, and cardiac arrhythmia screening to individuals diagnosed with Ulnar Mammary syndrome to identify associated abnormalities 1 (Evidence: Moderate).

Consider histopathological examination for atypical mammary masses to differentiate between benign conditions like hibernoma and hamartoma 5 8 (Evidence: Weak).

Genetic counseling should be provided to families with TBX3 mutations due to variable expressivity 1 (Evidence: Expert opinion).

References

1 Linden H, Williams R, King J, Blair E, Kini U. Ulnar Mammary syndrome and TBX3: expanding the phenotype. American journal of medical genetics. Part A 2009. link 2 Cavallo F, Astolfi A, Iezzi M, Cordero F, Lollini PL, Forni G et al.. An integrated approach of immunogenomics and bioinformatics to identify new Tumor Associated Antigens (TAA) for mammary cancer immunological prevention. BMC bioinformatics 2005. link 3 Hovey RC, Trott JF, Vonderhaar BK. Establishing a framework for the functional mammary gland: from endocrinology to morphology. Journal of mammary gland biology and neoplasia 2002. link 4 Soni MG, Kimura H, Burdock GA. Chronic study of diacylglycerol oil in rats. Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association 2001. link00140-x) 5 Gardner-Thorpe D, Hirschowitz L, Maddox PR. Mammary hibernoma. European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2000. link 6 McGrath M, Palmer S, Nandi S. Differential response of normal rat mammary epithelial cells to mammogenic hormones and EGF. Journal of cellular physiology 1985. link 7 Warburton MJ, Monaghan P, Ferns SA, Hughes CM, Rudland PS. Distribution and synthesis of type V collagen in the rat mammary gland. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 1983. link 8 Vas W, Gagic N, Davidson JW. Xeromammographic diagnosis of mammary hamartoma. Journal of the Canadian Association of Radiologists 1980. link

Paget's disease, mammary