Contralateral prophylactic mastectomies. Correlations between primary tumor and histological findings of controlateral breast

Backgound: In Italy in 2015 48,000 new cases of breast carcinomas were diagnosed. Women who are diagnosed with breast cancer have a significant risk of developing contralateral breast cancer during the rest of their lives and this risk is closely associated to the family history, to the onset of breast cancer at a young age and is expressed at about 0.5 to 1% of metachronous tumors per year. The purpose of this work was to evaluate which and how many neoplastic lesions were seen in the contralateral breast that underwent prophylactic mastectomy and to understand what factors predict the appearance of such lesions. Methods: 168 bilateral mastectomies were analyzed in patients with an average age of 47 years, carried out from July 2008 to April 2016, at the Breast Unit of the Sant’Andrea Hospital. We considered women of any age suffering from unilateral breast cancer without either clinical or radiological evidence of a malignant lesion in the contralateral breast and negative for mutations of the BRCA1-BRCA2 genes test. Of the 168 bilateral mastectomies 35 patients were excluded from the study because they underwent neoadjuvant chemotherapy, another 35 patients because they were suffering from a bilateral neoplasia and 7 cases because they had mutated BRCA1 or BRCA2 genes. Therefore the remaining 91 patients were included in the study. Results: Both the histological features of the primary tumor and any lesions found in the contralateral prophylactic breast were analyzed. Histological examination of the main breast showed 59 cases of Invasive Ductal Carcinoma (IDC), 17 cases of Invasive Lobular Carcinoma (ILC), 9 cases of In Situ Ductal Carcinoma (ISDC), 3 microinvasive ductal, 1 invasive tubular carcinoma, 1 in situ lobular and 1 widespread in situ. In the contralateral breast, the definitive histological examination revealed that 47 patients had an occult lesion in the prophylactic contralateral breast; in particular 2 cases of LIN 1, 7 cases of LIN2, 6 cases of lobular carcinoma in situ, 26 between DIN1A/DIN1A-B/DIN1B, 4 cases of carcinoma in situ and 2 cases of Invasive Ductal Carcinoma. The correlation obtained from the observation of the main tumor has shown that in a total of 59 invasive ductal carcinoma 32 have a controlateral occult lesions and in a total of 17 cases of invasive lobular carcinoma 9 have an occult lesion in the prophylactic breast. Of these lesions, the multicentric relationship is that 50% of invasive ductal and invasive lobular carcinoma of the main breast have a contralateral lesion. Conclusion: In conclusion we would like to remind, as demonstrated by our follow-up data and as the literature reiterates, that this surgery does not improve patient survival. Certainly patients with unilateral breast cancer have many surgical therapies to be able to deal with not only having a bilateral mastectomy. The end point of this work is try to understand the risk factors of having a contralateral breast lesion to reduce the probability of a metachronous cance

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline

Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment. An efficient, rapid, cost-effective accurate strategy for the detection of pathogenic variants is crucial. Mutations detection of BRCA1/2 genes includes screening for single nucleotide variants (SNVs), small insertions or deletions (indels), and Copy Number Variations (CNVs). Sanger sequencing is unable to identify CNVs and therefore Multiplex Ligation Probe amplification (MLPA) or Multiplex Amplicon Quantification (MAQ) is used to complete the BRCA1/2 genes analysis. The rapid evolution of Next Generation Sequencing (NGS) technologies allows the search for point mutations and CNVs with a single platform and workflow. In this study we test the possibilities of NGS technology to simultaneously detect point mutations and CNVs in BRCA1/2 genes, using the OncomineTM BRCA Research Assay on Personal Genome Machine (PGM) Platform with Ion Reporter Software for sequencing data analysis (Thermo Fisher Scientific). Comparison between the NGS-CNVs, MLPA and MAQ results shows how the NGS approach is the most complete and fast method for the simultaneous detection of all BRCA mutations, avoiding the usual time consuming multistep approach in the routine diagnostic testing of hereditary breast and ovarian cancers

Can Doppler or contrast-enhanced ultrasound analysis add diagnostically important information about the nature of breast lesions?

OBJECTIVES: Despite evidence suggesting that Doppler ultrasonography can help to differentiate between benign and malignant breast lesions, it is rarely applied in clinical practice. The aim of this study was to determine whether certain vascular features of breast masses observed by duplex Doppler and color Doppler ultrasonography (before and/or after microbubble contrast injection) add information to the gray-scale analysis and support the Breast Imaging-Reporting and Data System (BI-RADS) classification. METHODS: Seventy solid lesions were prospectively evaluated with gray-scale ultrasonography, color Doppler ultrasonography, and contrast-enhanced ultrasonography. The morphological analysis and lesion vascularity were correlated with the histological results. RESULTS: Percutaneous core biopsies revealed that 25/70 (17.5%) lesions were malignant, while 45 were benign. Hypervascular lesions with tortuous and central vessels, a resistive index (RI)≥0.73 before contrast injection, and an RI≥0.75 after contrast injection were significantly predictive of malignancy (

The Breast-Q assessment: Sant'Andrea experience

Despite in the last 20 years breast surgery has become less mutilating, mastectomy is indicated in approximately 30% of cases, not only for large invasive carcinoma, but also for multicentric tumors and intraductal diffuse carcinomas. The nipple loss is experienced by the patients like a mutilation; we achieved a significant improvement of the aesthetic result performing Nipplesparing mastectomy (NSM), joined with reconstruction techniques. This approach has a positive impact on psychology and quality of life (QOL) of breast cancer patients. To evaluate these important aspects, we retrospectively applied the BREAST-Q questioner to 101 patients underwent a NSM. BREAST-Q is an instrument designed by the Evelyn H. Lauder Breast Center, MSKCC (NY), to assess outcomes among women undergoing different types of breast surgery: we chose reconstruction module that is comprised of two domains: patient satisfaction and QOL. There are six subthemes (physical, psychosocial and sexual well-being patient, satisfaction with breast, satisfaction with overall outcomes and satisfaction with care). From December 2003 to September 2013 we performed 157 NSMs with immediate breast reconstruction on a court of 117 patients. Selection criteria included women with preoperative diagnosis of breast cancer, tumor at least 1 cm from nipple- areola complex (NAC) without nipple discharge or NAC retraction. The median follow-up was 40 months with an age range between 19 and 72 y. We recorded 2 deaths for breast cancer, with a overall survival of 97% and a rate of local recurrence of 8.5% (10 cases). Our follow-up program included medical interview, examination of routine clinical and imaging findings, and collecting information by the BREAST-Q survey. 101 patients agreed the questioner. Our results confirm that BREAST-Q is an useful to evaluate QOL and obtain a more tailored surgery. Patients are very interested to a chance of explaining their point of view or suggesting improvements or propose grievances to the surgical equipe. This is a preliminary report, even if findings are tell now encouraging: the definitive results need greater casemix and longer follow-up. We are already satisfied about the contribution of our Breast Unit.Despite in the last 20 years breast surgery has become less mutilating, mastectomy is indicated in approximately 30% of cases, not only for large invasive carcinoma, but also for multicentric tumors and intraductal diffuse carcinomas. The nipple loss is experienced by the patients like a mutilation; we achieved a significant improvement of the aesthetic result performing Nipplesparing mastectomy (NSM), joined with reconstruction techniques. This approach has a positive impact on psychology and quality of life (QOL) of breast cancer patients. To evaluate these important aspects, we retrospectively applied the BREAST-Q questioner to 101 patients underwent a NSM. BREAST-Q is an instrument designed by the Evelyn H. Lauder Breast Center, MSKCC (NY), to assess outcomes among women undergoing different types of breast surgery: we chose reconstruction module that is comprised of two domains: patient satisfaction and QOL. There are six subthemes (physical, psychosocial and sexual well-being patient, satisfaction with breast, satisfaction with overall outcomes and satisfaction with care). From December 2003 to September 2013 we performed 157 NSMs with immediate breast reconstruction on a court of 117 patients. Selection criteria included women with preoperative diagnosis of breast cancer, tumor at least 1 cm from nipple- areola complex (NAC) without nipple discharge or NAC retraction. The median follow-up was 40 months with an age range between 19 and 72 y. We recorded 2 deaths for breast cancer, with a overall survival of 97% and a rate of local recurrence of 8.5% (10 cases). Our follow-up program included medical interview, examination of routine clinical and imaging findings, and collecting information by the BREAST-Q survey. 101 patients agreed the questioner. Our results confirm that BREAST-Q is an useful to evaluate QOL and obtain a more tailored surgery. Patients are very interested to a chance of explaining their point of view or suggesting improvements or propose grievances to the surgical equipe. This is a preliminary report, even if findings are tell now encouraging: the definitive results need greater casemix and longer follow-up. We are already satisfied about the contribution of our Breast Unit

Pretransplant recipient blood CD14+ preDC levels correlate with increased acute GVHD after allogeneic PBSC transplantation

n/