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1.
Biomedicines ; 12(6)2024 Jun 03.
Article in English | MEDLINE | ID: mdl-38927449

ABSTRACT

BACKGROUND: Lynch syndrome is an autosomal dominant condition that leads to an increased risk of many neoplasms. In the United Kingdom, NICE recommends that patients with colorectal and endometrial cancer should be tested for Lynch syndrome. There is conflicting evidence in the literature on the link between breast cancer and Lynch syndrome. CASE PRESENTATION: A 54-year-old woman presented with a lump in her right breast with a background of locally advanced colorectal cancer and Lynch syndrome due to a MLH1 gene mutation. A core biopsy showed a grade 3, invasive, triple-negative NST carcinoma. The tumour was triple-negative with patchy positivity for CK14 and CK5/6. Simultaneously, a cystic skin lesion in the contralateral breast was noted, which comprised lesional cells with a proliferation of clear cells and bland basaloid cells. The lesion had evidence of sebaceous differentiation with AR, podoplanin and p63 positivity. MSH1 and PMS2 deficiency was found in the breast and skin lesions. CONCLUSIONS: In Lynch syndrome, it is vital to be aware of the increased risk of various types of cancer. This case adds to the body of evidence of the spectrum of malignancies that can be encountered in patients with Lynch syndrome.

2.
Pathobiology ; 85(4): 261-265, 2018.
Article in English | MEDLINE | ID: mdl-29788010

ABSTRACT

Mammary liposarcoma is among the rarest of breast tumours. Here we report the presentation, macroscopic, microscopic, and immunohistochemical features of an extremely rare case of metaplastic carcinoma with extensive pleomorphic liposarcomatous differentiation. A 47-year-old woman presented with bilateral grade III breast ptosis and a 3 × 4 cm mass in the lower outer quadrant of the left breast. Mammography and ultrasound confirmed a well-defined mass. A core biopsy performed was diagnosed as pleomorphic liposarcoma. Microscopically, this was a well-defined, lobulated tumour comprising solid sheets of large pleomorphic and spindle cells with bizarre forms, vacuolated cytoplasm, and ample mitoses. Atypical lipoblasts were easily identifiable. Due to the strong, though patchy, cytokeratin expression, the diagnosis of metaplastic carcinoma with pleomorphic liposarcomatous differentiation was made. Extensive sampling, careful search for a biphasic pattern, ductal carcinoma in situ, and/or epithelial differentiation, and a panel of broad-spectrum cytokeratins are essential to establish the diagnosis.


Subject(s)
Breast Neoplasms/diagnosis , Carcinoma/diagnosis , Breast Neoplasms/pathology , Breast Neoplasms/surgery , Carcinoma/pathology , Carcinoma/surgery , Diagnosis, Differential , Female , Humans , Liposarcoma/diagnosis , Liposarcoma/pathology , Mastectomy, Segmental , Middle Aged
3.
Int J Surg Protoc ; 1: 3-10, 2016.
Article in English | MEDLINE | ID: mdl-31851757

ABSTRACT

INTRODUCTION: Wide local excision and adjuvant radiotherapy is the standard of care for early breast cancer. For large tumours, however, mastectomy is frequently recommended as conventional breast-conserving techniques often result in poor cosmetic outcomes. Therapeutic mammaplasty (TM) may extend the boundaries of breast-conserving surgery by combining breast reduction and mastopexy techniques with tumour excision, preserving a natural breast shape and avoiding the need for mastectomy. The prevalence of this operative option among surgeons in the UK and its success rate are unknown. The TeaM study is a multicentre prospective study that aims to investigate the practice and outcomes of TM. METHODS AND ANALYSIS: Breast centres performing TM will be invited to participate through the research collaborative network and the professional associations. All patients undergoing TM between September 2016 and March 2017 will be included. Demographic, operative, oncological and complication data within 30-days of surgery will be collected. The primary outcome will be unplanned re-operation for complications. Secondary outcomes will include unplanned readmission, re-excision rates and time to adjuvant therapy. Prospective data on 500 patients from 50 centres are anticipated. Exploratory analyses will identify predictors for complications and inform the design of a definitive study. ETHICS AND DISSEMINATION: Research ethics approval is not required for this study. This has been confirmed by the on-line Health Research Authority decision tool. This study will provide novel information regarding the practice and outcomes of TM in the UK. This will inform decision-making for patients and surgeons and inform future research. Dissemination of the study protocol will be via the Mammary Fold Academic and Research Collaborative, the Reconstructive Surgery Trials Network and the professional associations, the Association of Breast Surgery and British Association of Plastic, Reconstructive and Aesthetic Surgeons. Results will be presented at relevant surgical conferences and published in peer-reviewed journals.

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