Metaplastic breast cancer (MpBC) is a rare, aggressive breast cancer (BC) histotype. Scarce information is available about MpBC genetic predisposition. Previous studies, mainly consisting of case reports, retrospective reviews and others on target therapies, pointed to a possible involvement of the BRCA1 gene in increasing MpBC risk, without ever confirming it. In this study, we retrospectively reviewed all BC patients counseled at our Institute for genetic testing of at least BRCA1 or BRCA2 ( BRCA ) genes and we found that 23 (23/5226 = 0.4%) were affected by MpBC. About 65% (15/23) of MpBC patients harbored a germline pathogenic variant (PV): 13 in BRCA1 (86.7%), including two patients who received genetic testing for known familial PV, one in TP53 (6.7%), and one in MLH1 (6.7%). We observed a statistically different frequency of MpBC in patients who carried a PV in the BRCA genes (13/1114 = 1.2%) vs . all other BC patients (10/4112 = 0.2%) ( p = 0.0002). BRCA carriers proved to have an increased risk of developing MpBC compared to all other BC patients who were tested for BRCA genes (OR = 4.47; 95% CI: 1.95–10.23). Notably, MpBCs were diagnosed in 2.1% (13/610) of BRCA1 carriers. No MpBCs were observed in BRCA2 carriers (0/498 = 0%), revealing a statistically significant difference between the prevalence of MpBCs in BRCA1 and BRCA2 carriers ( p = 0.0015). Our results confirmed that BRCA1 is involved in MpBC predisposition. Further studies on unselected patients are needed to elucidate the authentic role of BRCA1 and to explore the possible implication of other genes in MpBC predisposition.
INTRODUCTION The objective of this study was to re-classify published germline CDH1 variants identified in gastric cancer (GC) in accordance with the latest ClinVar definition and to correlate their pathogenicity with the established international clinical criteria for genetic testing. METHODS The relevant literature dating from 1998 to 2019 was systematically searched for data on CDH1 germline mutations in accord with PRISMA guidelines. The collected variants were classified according to the latest ClinVar definition into the following classes: benign (B), likely benign (LB), pathogenic (P), likely pathogenic (LP), and variant of unknown significance (VUS). The Mc-Nemar test was used to compare the adequacy of current versus previous International GC Linkage Consortium (IGCLC) criteria. RESULTS We re-classified a total of 247 CDH1 variants, and we identified that about 70% of B/LB variant carriers were not fulfilling the defined clinical criteria. Instead, all P/LP variants (100%) were associated with the hereditary diffuse gastric cancer (HDGC) phenotype fulfilling the 2020 ILGCC criteria, with a significant improvement (p=0.025) compared to previous version. CONCLUSIONS We conclude that germline CDH1 genetic testing is indicated only in families meeting the clinical criteria for the HDGC syndrome. This observation suggests that clinical phenotypes that do not clearly fulfill these criteria should not be considered for CDH1 genetic testing.
Abstract Metaplastic breast cancer (MpBC) is a rare, aggressive type of breast cancer, often classified as triple negative (TN). Scarce information is available about germline testing in MpBC. We retrospectively reviewed MpBC patients counseled at our Institute and found to harbor germline pathogenic variants (PVs), and we revised literature data. We identified a germline PV in 15 MpBC patients: 13 in BRCA1 (86.7%), one in TP53 (6.7%), one in MLH1 (6.7%) genes. Eight MpBC PV carriers in BRCA1 have been previously described, including a patient with a PV in both BRCA1 and TP53. MpBC histological subtype in PV carriers was heterogeneous. All MpBCs were TN but 13.3% in our series showed HER2 overexpression. We described the largest series of MpBCs with germline PVs. As previously reported, we observed that BRCA1 is the mainly involved gene in MpBC patients who underwent germline testing according to specific selection criteria. Additional studies on unselected patients are required to assess the authentic role of germline BRCA1 PVs in MpBCs and to explore the possible involvement of other genes in MpBC predisposition. Unraveling a specific MpBC molecular landscape is a starting point for the definition of new therapeutic strategies, since these tumors have a poor prognosis.
The objective of this study was to determine the male and female frequency of diffuse gastric cancer (DGC), the age at diagnosis, and the country of origin in a selected population with germline CDH1 variants from families with the hereditary diffuse gastric cancer (HDGC) syndrome. Relevant literature dating from 1998 to 2021 was systematically searched for data on CDH1 gene. The Wilcoxon rank sum test and the Chi-square test were used to estimate if the difference observed between patients with gastric cancer (GC) and unaffected individuals was significant. We identified 80 families fulfilling the established clinical criteria for HDGC CDH1 genetic screening. There were more women than men with DGC and germline CDH1 variant (65.5
Abstract Background Image-guided vacuum-assisted breast biopsy (VABB) of the tumour bed, performed after neoadjuvant therapy, is increasingly being used to assess residual cancer and to potentially identify to identify pathological complete response (pCR). In this study, the accuracy of preoperative VABB specimens was assessed and compared with surgical specimens in patients with triple-negative or human epidermal growth factor receptor 2 (HER2)-positive invasive ductal breast cancer after neoadjuvant therapy. As a secondary endpoint, the performance of contrast-enhanced MRI of the breast and PET–CT for response prediction was assessed. Methods This single-institution prospective pilot study enrolled patients from April 2018 to April 2021 with a complete response on imaging (iCR) who subsequently underwent VABB before surgery. Those with a pCR at VABB were included in the primary analysis of the accuracy of VABB. The performance of imaging (MRI and PET–CT) was analysed for prediction of a pCR considering both patients with an iCR and those with residual disease at postneoadjuvant therapy imaging. Results Twenty patients were included in the primary analysis. The median age was 44 (range 35–51) years. At surgery, 18 of 20 patients showed a complete response (accuracy 90 (95 per cent exact c.i. 68 to 99) per cent). Only two patients showed residual ductal intraepithelial neoplasia of grade 2 and 3 respectively. In the secondary analysis, accuracy was similar for MRI and PET–CT (77 versus 78 per cent; P = 0.76). Conclusion VABB in patients with an iCR might be a promising method to select patients for de-escalation of surgical treatment in triple-negative or HER2-positive breast cancer. The present results support such an approach and should inform the design of future trials on de-escalation of surgery.
This study investigates the impact of different subtypes of pathogenic BRCA variants on the prognosis and on the survival of breast cancer (BC) patients. Associations between BRCA1/2 pathogenic variants (PVs) mutations, clinicopathological features, locoregional tumor reappearance, and survival data were analyzed. The Gray’s test was used to test difference of the cumulative incidence of local relapse between missense/splicing and other mutations, taking into of competing events. The multivariate proportional hazard model was used to assess the independent association between type of mutation and local relapse, after adjustment for other prognostic factors and clinicopathological characteristics. Out of 482 patients, 285 presented 98 different BRCA1 PVs and 201 harbored 103 different BRCA2 PVs. Missense mutations were found in 46 BC patients (9.5
Pathogenic CDH1 germline mutations are associated with lobular breast cancer in the so-called hereditary lobular breast cancer (HLBC) syndrome, without apparent correlation with the classic hereditary diffuse gastric cancer (HDGC). Recent international guidelines recommend CDH1 screening also in absence of diffuse gastric cancer (DGC) history. Genomic characteristics underlying gastric and breast tumorigenesis in this varied population of patients is still unclear. In this review we revised all CDH1 germline mutations described in literature associated with lobular breast cancer (LBC). We distinguish two subgroups of CDH1 mutant carriers: (a) ‘mixed’ HDGC syndrome, showing both DGC plus LBC and (b) HLBC, in which DGC is absent and the LBC phenotype is predominant. A higher frequency of CDH1 mutations was identified in the HLBC syndrome with an early age at LBC diagnosis; it is possible that LBCs with CDH1 germline mutations are an independent inherited syndrome. This evidence allows us to gain biological insight into the pathophysiological mechanisms responsible for the different phenotypes of the disease and potentially tailor the prophylactic and screening procedures.
Hereditary diffuse gastric cancer is an autosomal dominant syndrome associated with E-cadherin protein gene (CDH1) germline mutations. Clinical criteria for genetic screening were revised in 2020 by the International Gastric Cancer Linkage Consortium. About 40% of families fulfilling clinical criteria for this inherited disease present deleterious CDH1 germline mutations. Lobular breast cancer is a neoplastic condition associated with the hereditary diffuse gastric cancer syndrome. E-cadherin constitutional mutations have been described in both settings, in gastric and breast cancers. The only life-saving procedure is prophylactic total gastrectomy for deleterious CDH1 germline mutant carriers. In this chapter we will describe the multidisciplinary clinical management of this complex inherited cancer predisposition.
The Breast JournalVolume 27, Issue 3 p. 273-275 BREAST IMAGES Schwannoma of the axillary region. Imaging findings, clinical pitfalls, and misdiagnosis Germana Lissidini MD, PhD, Corresponding Author Germana Lissidini MD, PhD germana.lissidini@ieo.it orcid.org/0000-0001-7686-8963 Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, Italy Correspondence Germana Lissidini, Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, Italy. Email: germana.lissidini@ieo.itSearch for more papers by this authorGiovanni Papa MD, PhD, Giovanni Papa MD, PhD Department of Medical, Surgical and Health Sciences, Plastic and Reconstructive Surgery Unit, University of Trieste, Trieste, ItalySearch for more papers by this authorAntonia Girardi MD, Antonia Girardi MD orcid.org/0000-0001-5484-0513 Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorArwa Ahmed Ashoor MD, Arwa Ahmed Ashoor MD Breast Unit, City Hospital, Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UKSearch for more papers by this authorLuca Nicosia MD, Luca Nicosia MD Division of Breast Radiology, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorDiana Esther Rossi MD, PhD, Diana Esther Rossi MD, PhD Unit of Anatomic Pathology, Agostino Gemelli University Policlinic Foundation, IRCCS, Rome, ItalySearch for more papers by this authorAntonio Toesca MD, Antonio Toesca MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorPaolo Arnone MD, PhD, Paolo Arnone MD, PhD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorPietro Caldarella MD, Pietro Caldarella MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorPaolo Veronesi MD, Paolo Veronesi MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, Italy Department of Oncology and Hemato-Oncology, Faculty of Medicine, University of Milan, Milan, ItalySearch for more papers by this author Germana Lissidini MD, PhD, Corresponding Author Germana Lissidini MD, PhD germana.lissidini@ieo.it orcid.org/0000-0001-7686-8963 Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, Italy Correspondence Germana Lissidini, Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, Italy. Email: germana.lissidini@ieo.itSearch for more papers by this authorGiovanni Papa MD, PhD, Giovanni Papa MD, PhD Department of Medical, Surgical and Health Sciences, Plastic and Reconstructive Surgery Unit, University of Trieste, Trieste, ItalySearch for more papers by this authorAntonia Girardi MD, Antonia Girardi MD orcid.org/0000-0001-5484-0513 Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorArwa Ahmed Ashoor MD, Arwa Ahmed Ashoor MD Breast Unit, City Hospital, Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UKSearch for more papers by this authorLuca Nicosia MD, Luca Nicosia MD Division of Breast Radiology, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorDiana Esther Rossi MD, PhD, Diana Esther Rossi MD, PhD Unit of Anatomic Pathology, Agostino Gemelli University Policlinic Foundation, IRCCS, Rome, ItalySearch for more papers by this authorAntonio Toesca MD, Antonio Toesca MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorPaolo Arnone MD, PhD, Paolo Arnone MD, PhD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorPietro Caldarella MD, Pietro Caldarella MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorPaolo Veronesi MD, Paolo Veronesi MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, Italy Department of Oncology and Hemato-Oncology, Faculty of Medicine, University of Milan, Milan, ItalySearch for more papers by this author First published: 15 February 2021 https://doi.org/10.1111/tbj.14196 Consent for pictures and publication of a case report was obtained from the patient. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume27, Issue3March 2021Pages 273-275 RelatedInformation
Aims: The clinical significance of nonvisualized sentinel lymph nodes (non-vSLNs) is unknown. The authors sought to determine the incidence of non-vSLNs on lymphoscintigraphy, the identification rate during surgery, factors associated with non-vSLNs and related axillary management. Patients & methods: A total of 30,508 consecutive SLN procedures performed at a single institution from 2000 to 2017 were retrospectively studied. Associations between clinicopathological factors and the identification of SLNs during surgery were assessed. Results: Non-vSLN occurred in 525 of the procedures (1.7%). In 73.3%, at least one SLN was identified intraoperatively. Nodal involvement was only significantly associated with SLN nonidentification (p < 0.001). Conclusion: Patients with non-vSLN had an increased risk for SLN metastasis. The detection rate during surgery was consistent, reducing the amount of unnecessary axillary dissection.
To assess outcome of breast cancer (BC) stages pT1-2 N0-1 after mastectomy alone and to identify prognostic factors calling for the need of postmastectomy radiotherapy. Patients who were not eligible for breast conserving surgery (BCS) were operated on with mastectomy between 1998 and 2008. Locoregional (LRR), distant (DM) control and breast cancer specific survival (BCSS) were retrospectively evaluated. Cumulative incidence (CI) of events was estimated according to Kalbfleisch and Prentice while Gray’s test tested difference. Kaplan–Meier method for survival and Cox proportional hazards model for univariable and multivariable analysis were used. A matched pair analysis between mastectomy alone and BCS plus whole breast irradiation (WBI), using the propensity score method, was performed. 1281 pT1-2 N0 and 1081 pT1-2 N1 were identified. Median follow-up was 8.2 years (9.2 years for survival). Overall, LRR rate was low for both N0 and N1 subgroups (10-year CI, 8.8% and 10.9%, respectively). Young age, lymphovascular invasion and Ki-67 ≥ 20% were proved to be statistically significant prognostic factors at multivariable analysis. The combination of ≥ 2 risk factors increased LRR rate to ≥ 15%. Risk factors combination weighed on LRR rate more than nodal status itself. DM rate doubled moving from negative to positive nodal status (10-year CI 10.5% versus 20.3%, respectively). BCSS remained high in both N0 and N1 subgroups (10-year CI 92.4% versus 84.5%, respectively). Remarkably, all the molecular subtypes except Luminal A significantly affected DM and BCSS both in the N0 and N1 subgroups. Nodes number significantly impacted on DM and BCSS but not on locoregional control. In the matched pair analysis, WBI decreased nodal recurrence rate and improved distant control, without affecting survival. Selected patients, namely those with at least two additional risk factors, presented high enough LRR risk to support the use of postmastectomy radiotherapy in both N0 and N1 subgroups. Moreover, the observation that radiotherapy may provide benefits that go beyond local control deserves to be further investigated.
Schwannoma (SCH) is a benign peripheral nerve sheath neoplasm of Schwann cell origin. It can be observed anywhere whilst the breast is uncommon site. Preliminary investigations are not entirely diagnostic and surgical excision is often required to reach a conclusion. We conducted a retrospective review in two European Breast units to know more about this rare condition. Herein, we provide a comprehensive review and we question whether the surgical approach to management can be changed.
The Breast JournalVolume 26, Issue 12 p. 2400-2402 BREAST IMAGES Giant malignant phyllodes tumor of the breast: Insights into optimal management and reconstructive options for a rare and challenging entity Germana Lissidini MD PHD, Corresponding Author Germana Lissidini MD PHD germana.lissidini@ieo.it orcid.org/0000-0001-7686-8963 Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, Italy Correspondence Germana Lissidini, Division of Senology, European Institute of Oncology, Milano Lombardia, Italy. Email: germana.lissidini@ieo.itSearch for more papers by this authorGiovanni Papa MD PHD, Giovanni Papa MD PHD Department of Medical, Surgical and Health Sciences, Plastic and Reconstructive Surgery Unit, University of Trieste, Trieste, ItalySearch for more papers by this authorArwa Ahmed Ashoor MD, Arwa Ahmed Ashoor MD Breast Unit, City Hospital, Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UKSearch for more papers by this authorAntonia Girardi MD, Antonia Girardi MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorAngelena Crown MD, Angelena Crown MD Breast Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USASearch for more papers by this authorAntonio Toesca MD, Antonio Toesca MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorElisabetta Pennacchioli MD, Elisabetta Pennacchioli MD Division of Melanoma, Soft Tissue Sarcomas and Rare Tumors, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorGiuseppe Trifirò MD, Giuseppe Trifirò MD Nuclear Medicine Unit, ICS Maugeri SpA SB, IRCCS, Pavia, ItalySearch for more papers by this authorMaria Pizzamiglio MD, Maria Pizzamiglio MD Department of Breast Radiology, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorDiana Esther Rossi MD PHD, Diana Esther Rossi MD PHD Unit of Anatomic Pathology, Agostino Gemelli University Policlinic Foundation, IRCCS, Rome, ItalySearch for more papers by this authorAlessandra Gottardi MD, Alessandra Gottardi MD Division of Plastic and Reconstructive Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorGabriel Farante MD, Gabriel Farante MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorViviana Galimberti MD, Viviana Galimberti MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorPaolo Veronesi MD, Paolo Veronesi MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, Italy Department of Oncology and Hemato-Oncology, Faculty of Medicine, University of Milan, Milan, ItalySearch for more papers by this author Germana Lissidini MD PHD, Corresponding Author Germana Lissidini MD PHD germana.lissidini@ieo.it orcid.org/0000-0001-7686-8963 Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, Italy Correspondence Germana Lissidini, Division of Senology, European Institute of Oncology, Milano Lombardia, Italy. Email: germana.lissidini@ieo.itSearch for more papers by this authorGiovanni Papa MD PHD, Giovanni Papa MD PHD Department of Medical, Surgical and Health Sciences, Plastic and Reconstructive Surgery Unit, University of Trieste, Trieste, ItalySearch for more papers by this authorArwa Ahmed Ashoor MD, Arwa Ahmed Ashoor MD Breast Unit, City Hospital, Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UKSearch for more papers by this authorAntonia Girardi MD, Antonia Girardi MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorAngelena Crown MD, Angelena Crown MD Breast Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USASearch for more papers by this authorAntonio Toesca MD, Antonio Toesca MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorElisabetta Pennacchioli MD, Elisabetta Pennacchioli MD Division of Melanoma, Soft Tissue Sarcomas and Rare Tumors, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorGiuseppe Trifirò MD, Giuseppe Trifirò MD Nuclear Medicine Unit, ICS Maugeri SpA SB, IRCCS, Pavia, ItalySearch for more papers by this authorMaria Pizzamiglio MD, Maria Pizzamiglio MD Department of Breast Radiology, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorDiana Esther Rossi MD PHD, Diana Esther Rossi MD PHD Unit of Anatomic Pathology, Agostino Gemelli University Policlinic Foundation, IRCCS, Rome, ItalySearch for more papers by this authorAlessandra Gottardi MD, Alessandra Gottardi MD Division of Plastic and Reconstructive Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorGabriel Farante MD, Gabriel Farante MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorViviana Galimberti MD, Viviana Galimberti MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, ItalySearch for more papers by this authorPaolo Veronesi MD, Paolo Veronesi MD Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, Italy Department of Oncology and Hemato-Oncology, Faculty of Medicine, University of Milan, Milan, ItalySearch for more papers by this author First published: 27 October 2020 https://doi.org/10.1111/tbj.14095 Consent for pictures and publication of a case report was obtained from the patient. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume26, Issue12December 2020Pages 2400-2402 RelatedInformation
Multiple synchronous (multifocal or multicentric) ipsilateral breast cancers with heterogeneous histopathology are a rare clinical occurrence, however, their incidence is increasing due to the use of MRI for breast cancer screening and staging. Some studies have demonstrated poorer clinical outcomes for this pattern of breast cancer, but there is no evidence to guide clinical practice. In this multidisciplinary review, we reflect on pathology and molecular characteristics, imaging findings, surgical management including conservation and reconstructive options and approach to the axilla, and the role of chemotherapy and radiotherapy. Multidisciplinary discussions appear decisive in planning an appropriate surgical choice and defining the correct systemic treatment tailored to each clinical condition.
Introduction Metaplastic breast cancer (MBC) is a rare condition of breast tumor with different subtypes, considered a disease with worse prognosis; treatments and survival are often unclear and conflicting. Methods We consecutively collected 153 primary MBCs of different subtypes. Breast surgery, neoadjuvant or adjuvant treatment, clinic-pathological factors, number and type of events during follow-up were considered to evaluate overall survival (OS) and invasive disease-free survival (IDFS). Results The majority of MBC was triple-negative (TN) subtype (88.7%), G3 (95.3%), pN0 (70.6%), and with high levels of Ki-67 (93.5%). For OS and IDFS, no significant associations were seen between the different MBC subtypes. The matched triple-negative MBC (TNMBC) and ductal TNBC cohorts had similar prognosis both in terms of OS (p = .411) and IDFS (p = .981). We observed a positive trend for TNMBC patients treated in the adjuvant setting with the cyclofosfamide, methotrexate, 5-fluorouracil protocol for better OS (p = .090) and IDFS (p = .087). A poor or absent response rate was observed in the neoadjuvant setting. Conclusion Our results demonstrate that metaplastic and ductal breast cancers with TN phenotype are similar in terms of overall and disease-free survival. Metaplastic cancers are poorly responsive to neoadjuvant treatment, and in the absence of novel targeted therapies, surgical treatment remains the first choice.
Background: To assess the clinical usefulness of serum tumor markers for early detection of distant breast cancer recurrence using FDG-PET/CT. Methods: We retrospectively analyzed 561 consecutive patients who underwent surgery for invasive primary breast cancer and had increased tumor markers (CA 15-3 and CEA) after completion of locoregional therapy. FDG-PET/CT data were reviewed for all cases. CA 15-3 and CEA were evaluated both in a continuous and in a quartile (Q) distribution. The Wilcoxon rank-sum test and logistic regression models were used to evaluate the association between increased tumor marker values and the presence (and type) of distant metastases. Results: The median value of CA 15-3 was 35.0 U/mL (IQR, 29.5–43.0) in cases where no distant metastases were detected, and it was 58.9 U/mL (IQR, 40.0–108.0) in cases where metastases were detected (p < 0.001). The median value of CEA was 6.6 U/mL (IQR, 4.4–10.0) in cases of no metastases and 12.4 U/mL (IQR, 6.9–30.0) in cases of metastases (p < 0.001). Increased levels of both tumor markers (Q3 and Q4) were strongly associated with the presence of distant metastases. The association between CA 15-3 and bone/liver metastases was stronger compared with other types of metastases (p heterogeneity between odds ratios [ORs] = 0.03 for Q3 and <0.001 for Q4), while no relevant heterogeneity between ORs emerged for CEA. Conclusion: Increased tumor marker levels detected in asymptomatic breast cancer patients during adjuvant therapies and follow-up are significantly predictive of distant metastases identified on FDG-PET/CT.
E-cadherin protein (CDH1gene) integrity is fundamental to the process of epithelial polarization and differentiation. Deregulation of the E-cadherin function plays a crucial role in breast cancer metastases, with worse prognosis and shorter overall survival. In this narrative review, we describe the inactivating mechanisms underlyingCDH1gene activity and its possible translation to clinical practice as a prognostic biomarker and as a potential targeted therapy.
Robotic nipple-sparing mastectomy (RNSM) may allow for more precise anatomic dissection and improved cosmetic outcomes over conventional open nipple-sparing mastectomy; however, data regarding the feasibility and safety of the procedure are limited. The aim of this study was to present and discuss perioperative surgical outcomes and early oncologic follow-up data on consecutive patients undergoing RNSM from June 2014 to January 2019. Patients underwent RNSM and immediate robotic breast reconstruction through an axillary incision at a single institution. Perioperative data, complications at 3 months postoperatively, pathological data, and adjuvant therapies were recorded. Local recurrence-free, disease-free, and overall survival were analyzed. Overall, 73 women underwent 94 RNSM procedures. Indications were invasive breast cancer in 39 patients, ductal carcinoma in situ in 17 patients, and BRCA mutation in 17 patients. Mean surgery time was 3 h and 32 min. One-step reconstruction with implant occurred in 89.4% of procedures. The rate of complications requiring reoperation was 4.3%, and the rate of flap or nipple necrosis was 1.1%. Median follow-up was 19 months (range 3.1–44.8). No local recurrences occurred. Overall survival at 12, 24, or 60 months was 98% (95% confidence interval 86–100%). We observed a low complication rate in 94 consecutive RNSM procedures, demonstrating the procedure is technically feasible and safe. We found no early local failures at 19 months follow-up. Long-term follow-up is needed to confirm oncologic safety. Future clinical trials to study the advantages and disadvantages of RNSM are warranted.