Niall McInerney

Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort

It has been proposed that rare variants within the double strand break repair genes CHEK2, BRIP1 and PALB2 predispose to breast cancer. The aim of this study was to evaluate the prevalence of these variants in an Irish breast cancer cohort and determine their contribution to the development of breast cancer in the west of Ireland. We evaluated the presence of CHEK2_1100delC variant in 903 breast cancer cases and 1,016 controls. Six previously described variants within BRIP1 and five within PALB2 were screened in 192 patients with early-onset or familial breast cancer. Where a variant was evident, it was then examined in the remainder of our 711 unselected breast cancer cases. CHEK2_1100delC was found in 5/903 (0.5%) breast cancer cases compared to 1/1016 (0.1%) controls. One mutation at BRIP1 (2392 C>T) was identified in the early-onset/familial cohort. Examination of this variant in the remainder of our cohort (711 cases) failed to identify any additional cases. None of the previously described PALB2 variants were demonstrated in the early-onset/familial cohort. We show evidence of CHEK2_1100delC and BRIP1 2392 C>T within the Irish population. CHEK2_1100delC and BRIP1 mutations incidence in Ireland is similar to that found in other unselected breast cancer cohorts from northern European countries. We found no evidence to suggest that PALB2 mutation is an important breast cancer predisposition gene in this population.

Symptomatic Breast Cancer Diagnosis and Multimodal Management in Women Aged 40 to 50 Years; Consequences of Current Mammographic Screening Programs

INTRODUCTION Consensus exists that screening mammography is appropriate for women aged 50 to 69 years. However, the effectiveness of such screening for women aged 40 to 50 years is still questioned. The aim of our study was to analyze breast cancer management in the 40- to 50-year age group. We also wished to determine the proportion of patients with a significant family history and whether this was associated with more advanced disease. PATIENTS AND METHODS All female patients with primary breast cancer diagnosed between 40 and 50 years of age were included over a 4-year period. The database of the National Breast Cancer Research Institute was interrogated, and a chart and radiology review carried out to obtain relevant details of clinical presentation, family history, radiological findings, and treatments undertaken. RESULTS Three hundred thirty-four patients were diagnosed in this cohort during the study period. Twenty-two percent of those diagnosed had a family history of breast cancer with 1.8% having a genetically confirmed predisposition to breast cancer. A significant proportion of patients presented with advanced disease, with 50% of patients having nodal involvement and 3% who presented with distant metastases. The overall rate of mastectomy was 47%, with minimal variation between the surgeons who performed the surgeries. More than half of the patients in our analysis underwent axillary clearance (51%). CONCLUSION Our results indicate that a large proportion of patients in the 40- to 50-year age group presented with advanced disease and required aggressive surgical and adjuvant treatment. The presence of a family history did not identify a subgroup with more advanced disease at presentation.

Botulinum Toxin Treatment for Mild to Moderate Platysma Bands: A Systematic Review of Efficacy, Safety, and Injection Technique

Background Platysma bands are characteristic of an aging neck. Resection and plication of the platysma muscle is the basis of treatment. However, unfavorable surgical outcomes and improved understanding of platysma band etiology have shifted treatment towards nonsurgical rejuvenation. Objectives The aim of this paper was to assess the efficacy, injection techniques, and complications associated with botulinum toxin injection for the treatment of platysma bands. Methods A systematic literature search was performed to identify articles reporting botulinum toxin injections for platysma bands in neck rejuvenation. The search included published articles in three electronic databases-Ovid MEDLINE, EMBASE, and the Cochrane Library-between January 1985 and December 2017. Results Three studies met the inclusion criteria, with a total of 78 patients undergoing botulinum toxin injection for platysma bands. Incobotulinumtoxin A was used in 62.3% (n = 45/78) of patients, with 38.4% (n = 30/78) receiving abobotulinumtoxin A. Efficacy was assessed using the Merz platysma score scale. A mean score improvement of 2.0 points, with a response rate of 93.7%, was observed after 14 ± 2 days. At 3 months, the mean score improvement was 1.2 points with a response rate of 86%. Patient-reported metrics demonstrated an improvement in 91% (n = 71/78) of subjects. The three studies used a standard injection technique, with a maximum 20 IU of incobotulinumtoxin A and 5 U abobotulinumtoxin A administered per band. Complications were reported in 15.4% (n = 12/78) of patients, with none requiring further intervention. Conclusions Botulinum toxin is a highly effective treatment for isolated platysma bands. A safe injection technique is described and recommended for clinical practice. Level of Evidence 4

Tumor Margin Assessment With Loupe Magnification Enables Greater Histological Clearance of Facial Basal Cell Carcinomas Compared With Clinical Examination Alone

BACKGROUND Surgical excision of facial basal cell carcinomas (BCCs) is a balance between oncological clearance and conservation of cosmetic and functionally sensitive tissues. OBJECTIVE To assess if loupe magnification (LM) can enhance the visual assessment of BCC tumor margins resulting in a greater histological clearance. MATERIALS AND METHODS This prospective study randomized patients with primary facial BCCs into preoperative tumor margin assessment with LM (study group) or clinical examination alone (control group). Basal cell carcinomas were excised with a predetermined surgical margin of either 2, 3,, or 4 mm. Mean histological margin, incomplete excision rate, and method of closure were recorded and compared between LM and control groups, across a range of surgical margins. RESULTS Ninety-four BCCs were excised from 93 patients, 47 BCCs in each group. The mean histological margin was larger in the study versus control group for each group (2-mm margin, 1.8 vs 1.4, 3-mm margin, 2.4 vs 2.3, 4-mm margin, and 3.1 vs 2.7), but only statistically significant in the 4-mm group (p = .032). There was no difference in method of closure between LM and control groups. CONCLUSION Loupe magnification improved tumor margin assessment for facial BCC enabling a greater diameter of histological clearance. The use of LM should become a standard practice for facial BCC excision.

Current practice patterns of drain usage amongst UK and Irish surgeons performing bilateral breast reductions: Evidence down the drain

Abstract Introduction: Bilateral breast reduction (BBR) is one of the most frequently performed female breast operations. Despite no evidence supporting efficacy of drain usage in BBRs, postoperative insertion is common. Recent high quality evidence demonstrating potential harm from drain use has subsequently challenged this traditional practice. The aim of this study is to assess the current practice patterns of drains usage by Plastic & Reconstructive and Breast Surgeons in UK and Ireland performing BBRs. Method: An 18 question survey was created evaluating various aspects of BBR practice. UK and Irish Plastic & Reconstructive and Breast Surgeons were invited to participate by an email containing a link to a web-based survey. Statistical analysis was performed with student t-test and chi-square test. Results: Two hundred and eleven responding surgeons were analysed, including 80.1% (171/211) Plastic Surgeons and 18.9% (40/211) Breast Surgeons. Of the responding surgeons, 71.6% (151/211) routinely inserted postoperative drains, for a mean of 1.32 days. Drains were used significantly less by surgeons performing ≥20 BBRs (p = 0.02). With the majority of BBRs performed as an inpatient procedure, there was a trend towards less drain usage in surgeons performing this procedure as an outpatient; however, this was not statistically significant (p = 0.07). Conclusion: Even with the high level of evidence demonstrating the safety of BBR without drains, they are still routinely utilised. In an era of evidence- based medicine, surgeons performing breast reductions must adopt the results from scientific research into their clinical practice.

Rapidly enlarging cutaneous nodules on a full-thickness skin graft following an excision of a squamous cell carcinoma – a diagnostic clue for multiple myeloma

Abstract Cutaneous extramedullary plasmacytomas (EMPs) are rare plasma cell neoplasms of the skin occurring in 2–4% of patients with multiple myeloma (MM). We describe a man diagnosed with IgA lambda MM (Stage III) after rapidly enlarging cutaneous nodules developed in the surgical site of recently excised skin malignancies. Cutaneous EMP must be considered for expanding cutaneous nodules at sites of surgery or trauma.