Rosai-Dorfman Disease: Breast Involvement-Case Report and Literature Review.

Background and objectives: Rosai-Dorfman disease (RDD) is a type of histiocytosis that usually appears in young adults or children as bilateral cervical lymphadenopathy, but extranodal involvement in not uncommon. Although the pathogenesis is not entirely elucidated, recent studies showed a possible neoplastic process. Materials and methods: Our manuscript presents a rare case of Rosai-Dorfman disease of the breast, the management of this rare case, and a literature review. There are few cases reported of RDD of the breast (around 90 globally reported cases); the data is poor, and the management not yet standardized for these cases. The case reported here shows the importance of correct breast investigation, breast imaging, and ultrasound-guided biopsy that provided an accurate diagnosis and guided further management. Results: Although RDD of the breast was rarely presented as bilateral disease in other case reports, our case showed bilateral breast disease with the suspicion of breast cancer on imaging. Pathology and immunohistochemistry were of critical importance and showed a specific pattern for histiocytosis. A multidisciplinary approach was taken into consideration for these cases in order to establish the approach. Some patients underwent surgery, but watchful waiting and close follow-up were the preferred approach. Conclusions: RDD of the breast is a rare form of histiocytosis, with fewer than 100 globally published cases. Although the management of this disease is not established yet by guidelines, a follow-up approach should be enough for these patients, and surgery might be overtreatment. Mortality from RDD is very low due to comorbidities. A multidisciplinary team decision is important, and abstinence might significantly benefit these patients.

Follow-up after Ductal Carcinoma In Situ Treatment.

Follow-up after ductal carcinoma in situ (DCIS) treatment is a matter of debates and a strategy has not yet been adopted. The current follow-up strategy is not distinguished from that of invasive breast cancers. Although in recent years DCIS is seen as a distinguished category of breast cancer, the follow-up strategy does not reflect this new paradigm. It continues to use the same strategy like in invasive breast cancer and practices differ widely worldwide or even in the same country. A consensus is needed to keep safety of patients and save costs without compromising the outcome.

Single Center Experience of Genetic Testing in Patients Undergoing Breast Cancer Treatment.

BACKGROUND: Breast cancer remains the most frequently diagnosed cancer in female population worldwide. However, germline mutations are responsible for a small proportion of these cases. The aim of our study is to assess how germline mutations influence the management and outcome of these patients taken into consideration both their cancer diagnosis and genetic assessment. METHODS: We performed a retrospective analysis in a women's single-center during a period of six years to assess the contribution of germline mutation in the treatment, prognosis and survival of breast cancer patients. Statistics were collected from both the patients' medical records and genetics department. RESULTS: From the total number of patients treated for breast cancer in our department between 2017 and 2022, 243 were eligible for genetic testing, comprising either BRCA1/2 or extended panel, taking into consideration their personal and family history. Of all subjects included in our study cohort, 5% were carriers of a pathogenic(P) or likely pathogenic(LP) variant of cancer susceptibility gene, of which 78% were diagnosed before the age of 50; triple negative disease was diagnosed in the majority of cases, and therefore, 62% of patients started treatment with systemic neoadjuvant chemotherapy and 32% of subjects underwent upfront surgery. Prophylactic surgery for contralateral breast and bilateral salpingo-oophorectomy was considered and performed for 20% of patients. Less than 2% of cases had metastatic disease and received PARP inhibitors, with excellent treatment response and a very low rate of mortality in the study group. CONCLUSION: Carriers of pathogenic variants with breast cancer diagnosis may have a greater benefit from a tailored approach, including both surgical and oncological treatment, with better long-term outcomes.