Male Breast Cancer

Although male breast cancer makes up less than 1% of all breast cancers, its incidence has been increasing worldwide. Recognition of the unique clinical and histologic findings of primary breast carcinoma is important to avoid delay in the diagnosis and initiation of appropriate treatment.

P2, N=119, Active, not recruiting, H. Lee Moffitt Cancer Center and Research Institute | Trial completion date: Dec 2026 --> Mar 2027 | Trial primary completion date: Dec 2025 --> Mar 2026

P1/2, N=5, Terminated, National Cancer Institute (NCI) | Phase classification: P1 --> P1/2

Our findings add valuable information to the current understanding of the HER2 spectrum in the male breast cancer, including frequency distribution and molecular characterization. With some exceptions, HER2-low, ultra-low and null breast cancer in men shared genomic features, suggesting that the disease biology may not be different across the spectrum of what historically has been considered HER2-negative disease. Interestingly, HER2 ultra-low, HER2-low and HER2-null had differential tumor immune microenvironment that warrant further exploration.

Our analysis suggests a strong association between AR expression and TP53 mutations, TMB-H, and PD-L1 positivity, immune cell infiltration, immune checkpoint and stem cell-related gene. Also, T cell inflamed and IFNy score were inversely related. Further exploration of specific alterations and immune-oncology markers associated with AR expression may help in clinical trial design for male patients with BC.

Subsequently, he received androgen deprivation therapy (ADT) for 6 months with triptorelin and bicalutamide...The pathological stage was pT1c pN1mi.The Oncotype DX study had a Recurrence Score (RS) of 22 points, leading to a recommendation for adjuvant chemotherapy with Docetaxel-Cyclophosphamide for 4 cycles, followed by tamoxifen...Early detection through screening and appropriate medical follow-up improves the prognosis in patients carrying PV in BRCA2. Therefore, risk control monitoring and adequate genetic counseling are necessary.

These data indicate that HR+/HER2- MaBC has a differential mutational spectrum and TMB-high frequency, MHC Class I and MHC class II, drug efflux and stem cell-related gene expression compared to their HR+/HER2- FeBC counterparts. These suggest important differences in tumor biology between men and women with HR+/HER2- breast cancer. A better understanding of these differences with additional research may help in design future clinical trials and treatments for men with HR+/HER2- BC.

Our findings described the clinical and pathological profile of breast cancer in a male cohort in Mexico, with a significantly high proportion of advanced disease, triple-negative subtype, nuclear grade III, and endocrine resistance. Further comprehensive studies, including research into somatic mutations, are needed.

Rates of MBC are significantly raised in KS and a higher clinical suspicion of breast cancer should be considered when assessing men with KS. The true aetiology of MBC in KS, however, requires further research. There is a need for an accurate and up to date study of MBC incidence in KS to define the current risk.

Despite the differences in the stage at diagnosis, response to treatments, lower awareness of the disease, older age at diagnosis, and consequently, the increase in accompanying comorbid diseases, male breast cancer is managed according to studies and guideline recommendations for female breast cancer due to the lack of sufficient randomized studies. By presenting our clinical experience, we have emphasized the necessity for further studies in this field.

Our findings suggest that HER2 low status is frequently detected in MBC. Despite this, HER2 low did not correlate with clinical and pathological parameters, nor did it impact patients' survival.

Factors significantly associated with survival included age (χ2 = 3.856, p = .050), estrogen receptor (χ2 = 10.427, p = .005), molecular types (χ2 = 10.641, p = .031), P63 (χ2 = 2.631, p < .001), and endocrine therapy (χ2 = 31.167, p < .001). These findings provide valuable insights into MBC within the Chinese population and serve as a reference for the standard treatment of MBC.

In conclusion, the predictive model constructed had good clinical utility and can help the clinician to select appropriate treatment strategies for HER2-positive MBC patients.

Treatment typically follows protocols for female breast cancer, including surgery, chemotherapy, and hormone therapy, with tamoxifen being commonly used. Further research is needed to better understand its pathogenesis and to develop more effective, tailored treatments.

Genetic testing of the excised tumor revealed a MUTYH gene mutation and a BARD1 (BRCA1-associated RING domain 1) gene mutation of unknown significance. Histopathological analysis confirmed a Grade 2, ER/PR-positive, KI 67-positive, and HER2-negative tumor.

P=N/A, N=800, Not yet recruiting, University of Southern California | Trial completion date: Jul 2027 --> Oct 2027 | Initiation date: Jul 2024 --> Oct 2024 | Trial primary completion date: Jul 2026 --> Oct 2026

P1; Trial completion date: May 2024 --> Dec 2024

P=N/A, N=5, Terminated, University Medical Center Groningen | Active, not recruiting --> Terminated; Five patients were included; it did not succeed in recruiting the target number of 6 patients. This is as a result of the rarity of this disease in men.

P=N/A, N=4, Completed, University of Chicago | Active, not recruiting --> Completed | Trial completion date: Sep 2024 --> Jan 2024 | Trial primary completion date: Sep 2024 --> Jan 2024

Oncologists, internists, and primary care clinicians should be vigilant about offering appropriate genetic testing to males. Identifying more male carriers of BRCA1/2 PVs will maximize opportunities for cancer early detection, targeted risk management, and cancer treatment for males, along with facilitating opportunities for risk reduction and prevention in their family members, thereby decreasing the burden of hereditary cancer.

However, the guidelines followed for the diagnosis and treatment modalities of MBC are mostly based on FBC that is due to the lack of prospective studies related to MBC. However, there are distinct clinical and molecular features of MBC, it is a need to develop different clinical methods with more multinational approaches to help oncologist to improve care for MBC patients.

Breast cancer in males has a high incidence of node positivity, ER positivity and LVSI. Even with advanced stages at presentation, trimodality therapy in a multidisciplinary setting offers good long-term outcomes.

This study demonstrates that CW recommendations are not being routinely applied to males. These findings reinforce the need for additional studies and subsequent recommendations for optimal application of axillary surgery de-implementation for males diagnosed with breast cancer.

Detailed history, physical examination and appropriate radiological investigations are essential. Although rare in young individuals, neoplastic aetiology should be considered if the history and physical examination suggest it.

Therefore, BRCA-associated male tumours could be due to BRCA2 PVs different from those usually detected in women. In the event that it is demonstrated, in future, that male cancers are genetically distinct entities from those female this could improve personalized risk evaluation and guide therapeutic choices for patients of both sexes, in order to obtain a gender equality in cancer care.

The patient was treated with Pembro+Gem+CBDCA therapy as triple-negative breast cancer, Stage IV...In this case, the diagnosis of breast cancer was made based on these immunohistochemistry results, and treatment was initiated. Conclusion We have experienced a case of male breast cancer, which is considered to be very rare

Weekly Paclitaxel therapy was scheduled as preoperative chemotherapy, followed by AC therapy...Postoperative adjuvant therapy will be AC therapy, followed by radiation therapy, followed by hormone therapy, with the addition of Olaparib...Since male breast cancer frequently has BRCA2 pathogenic variants, is often discovered at an advanced stage, and is recommended to be treated in the same way as female breast cancer, it was thought that there would be great benefits to performing BRCA genetic testing. In the future, it will be necessary to proceed with screening for prostate cancer and genetic counseling for blood relatives, and to utilize the results of this genetic test in the health management of the patient and his/her blood relatives

This time, the tumor size was relatively large at 36 mm, and the ER was high at 8 on the allred score, but the PgR was low at 4 on the allred score, and the Ki67 was high at 37.7%, so postoperative chemotherapy was considered. However, after learning that Oncotype Dx was now covered by insurance for men, we submitted Oncotype Dx and were able to avoid chemotherapy, so we report this case with some literature review

Seven cases were administered TAM after surgery. In one case of encapsulated papillary carcinoma, the father and aunt had breast cancer, and the family history suggested the possibility of a positive BRACAnalysis, but the result was negative, which was an extremely interesting result

In addition, a study of comprehensive genomic profiling of metastatic mucinous carcinoma identified genetic abnormalities, including FGFR1 and ERBB2 amplification, which have been reported to be potential therapeutic targets. Although no genetic mutations were identified in this case, this data could be important in understanding the unique pathology

In April 2018, insurance coverage for BRACAnalysis was started for patients with HER2-negative advanced recurrent breast cancer, and the scope of testing and the scope of Olaparib have been gradually expanded to date... The mean age at the time of breast cancer diagnosis in the 14 mutation-positive cases was 51.6 years (range, 36-78 years). There were three cases of progression or systemic recurrence, and two cases of metachronous bilateral breast cancer. Cases that met the requirements for HBOC diagnosis included five cases aged 45 years or younger, four cases of triple negative cases aged 60 years or younger (one of which was 45 years or younger), two cases of unilateral multiple onset, two cases of a history of ovarian cancer, nine cases of a family history, and one case of male breast cancer.

Conclusion By performing O-DX for ER-positive/HER2-negative breast cancer, it is possible to select appropriate postoperative treatment for each case. PgR and Ki-67, which are considered to be prognostic factors, were also correlated with RS of O-DX

This novel case of genetically based male breast cancer with dual deleterious gene mutations provides insight into current treatment recommendations and the subtle differences between male breast cancer and female breast cancer. Engaging in discussions surrounding such rare cases not only raises awareness of male breast cancer but also indicates the need for further research aimed at establishing evidence-based management strategies for male patients with breast cancer.

Male breast cancer is a rare disease, the better understanding of which is necessary for a more effective diagnostic and therapeutic approach.

Our investigation provides novel insights into the evolutionary progression from gynecomastia to male breast cancer, shedding light on the pivotal role of CD13 in driving this transition. The identification of CD13 as a potential therapeutic target suggests the feasibility of CD13-targeted interventions, specifically tailored for male breast cancer treatment.

Our study will offer valuable guidance for physicians or patients when making treatment decisions and provide an effective reference for decision-making to consider the appropriate allocation of funds to this special group.

High-TMB MBCs showed a higher percentage of tumor infiltrating lymphocytes (p=0.04), as reported in other type of tumors.Overall, these results show that specific subsets of MBC may be characterized by clinically actionable somatic variants, and high levels of TMB and MSI. Conclusion Our findings suggest that a comprehensive tumor profiling may provide data on predictive biomarkers useful for the selection of MBCs eligible for innovative therapeutic approaches, including therapy targeting PIK3CA and immunotherapy.

P=N/A, N=800, Not yet recruiting, University of Southern California

The abundance of mast cells is significantly higher in intact males compared to neutered males, suggesting that hormone signalling may impact mast cell recruitment. In this study, we demonstrate the utility of the male ovine mammary gland as a model for furthering our knowledge of postnatal male mammary biology.

P=N/A, N=5, Active, not recruiting, University Medical Center Groningen | Recruiting --> Active, not recruiting | Trial completion date: Jan 2024 --> Oct 2024 | Trial primary completion date: Jan 2024 --> Oct 2024

Our findings indicate that men with breast cancer are diagnosed at an older age than women, and that men have a more advanced stage than women at the time of diagnosis. The histopathology and expression of biomarkers of breast cancer differ between men and women.

As expected, BRCA2 PVs predominate in MBC families with rates 10-fold those in CHEK2 and BRCA1. The MSS is an effective tool in assessing the likelihood of BRCA1/2 PVs.