Management of PALB2-associated breast cancer: A literature review and case report.

Germline pathogenic variants (PV) of the PALB2 tumor suppressor gene are associated with an increased risk of breast, pancreatic, and ovarian cancer. In previous research, PALB2-associated breast cancer showed aggressive clinicopathological phenotypes, particularly triple-negative subtype, and higher mortality regardless of tumor stage, type of chemotherapy nor hormone receptor status. The identification of this germline alteration may have an impact on clinical management of breast cancer (BC) from the surgical approach to the systemic treatment choice. We herein report the case of a patient with a germline PV of PALB2, diagnosed with locally advanced PD-L1 positive triple-negative BC, who progressed after an immune checkpoint inhibitor (ICI)-containing regimen and then experienced a pathologic complete response after platinum-based chemotherapy. This case report hints a major role of the germline PALB2 alteration compared to the PD-L1 expression as cancer driver and gives us the opportunity to extensively review and discuss the available literature on the optimal management of PALB2-associated BC. Overall, our case report and review of the literature provide additional evidence that the germline analysis of PALB2 gene should be included in routine genetic testing for predictive purposes and to refine treatment algorithms.

Management of nipple adenomas during pregnancy: a case report.

BACKGROUND: Nipple adenoma is a very uncommon, benign neoplasm that involves the nipple. A palpable mass of the nipple associated with nipple discharge and erosion or ulceration is the common clinical presentation. Generally, complete surgical excision of the nipple is the main treatment, alternative therapeutic methods such as Mohs micrographic surgery, nipple splitting enucleation, and cryotherapy can be considered. Disorders of the breast in young women are generally benign. Even if the management during pregnancy is usually conservative and surgical excision is reserved for very strong malignancy suspicion, benign lesions can cause the impossibility to breastfeed after giving birth when involving the nipple. CASE PRESENTATION: We present the case of a 28-year-old female, who was referred to the Breast Unit of the University Hospital of Modena (Italy) in May 2020 with a 12-months history of enlargement of the left nipple with associated erythema, serohemorrhagic discharge, and pain in the left nipple region. The diagnostic assessment came out in favor of a nipple adenoma. After surgical treatment was recommended, the patient got pregnant. Taking into account the major risks of surgery during pregnancy, a multidisciplinary discussion was conducted, to consider whether to proceed with surgery or postpone it after pregnancy. Because of the volume and the position of the adenoma, the indication for surgical excision was confirmed, to allow regular lactation and breastfeeding immediately after giving birth and to avoid potential obstructive complications. Surgical excision of nipple adenoma without complete resection of the nipple was performed after her first trimester of pregnancy under local anesthesia. A histopathological examination confirmed the diagnosis. No recurrence occurred after 12 months. The patient gave birth, had no deficit in lactation, and successfully breastfed. CONCLUSIONS: Therefore, we consider that nipple adenoma enucleation might be a safe treatment even during pregnancy. Moreover, conservative local treatment of nipple adenomas can preserve the nipple aesthetically and functionally, thus allowing regular lactation and breastfeeding in young women.

Ewing's Sarcoma of the Breast in a Young Woman: A Case Report and Review of the Literature.

Ewing's Sarcoma Family Tumors (ESFT) include classic Ewing's sarcoma of bone, extra-skeletal Ewing's sarcoma (EES), malignant small cell tumor of the chest wall (Askin tumor), and soft tissue-based Peripheral Primitive Neuroectodermal tumors (pPNET). The t(11;22)(q24;q12) translocation is associated with 85% of tumors and leads to EWS-FLI-1 (Ewing's Sarcoma-Friend Leukemia Integration-1) formation. This is a potent transforming gene that encodes a chimeric protein that plays a role in the genesis of Ewing's Sarcoma and Primitive Neuroectodermal Tumors. The breast location of ESFT remains exceptional. The prognosis is among the poorest of all subtypes of breast cancer and even poorer than other extraosseous Ewing's sarcomas. We describe the case report of a 23-year-old patient with a growing breast lump, who required an accurate and challenging diagnostic estimation and who ultimately resulted in a peripheral primary neuroectodermal tumor (pPNET). Through this case description and a brief narrative review of the literature, we aim to highlight the rarity of ESFT located in the breast. Histopathological confirmation is mandatory for all growing masses of the breast to reach a conclusive diagnosis and plan the correct treatment. Patients with rare diagnoses should always be centralized in breast units, conducting multidisciplinary meetings and, when necessary, the diagnosis should be shared through wider national or international registries.

Uncommon differential diagnosis of a breast ulcer: a case study.

INTRODUCTION: Spider bites are common worldwide. Frequently symptoms resolve without any adverse outcome, but in rare cases the bite can cause severe morbidity. The most typical presentation of Mediterranean recluse spider (Loxosceles Rufescens) bite is a dermatonecrotic lesion of the skin (skin loxoscelism). When the only manifestation of a spider bite is an ulcerated skin lesion, clinical suspicion and differential diagnosis strongly depend on its site. We present the case of an ulcerated wound of the breast, diagnosed as a Mediterranean recluse spider bite. CASE PRESENTATION: A 79-year-old woman presented a 10cm-wide soft tissue ulceration of her left breast. At first, the diagnostic hypothesis of an ulcerated cancer was ruled out. Two family members revealed a recent history of Mediterranean recluse spider bite and the same clinical diagnosis was made for our patient. A wide excision was performed, with complete resolution of symptoms. DISCUSSION: No specific diagnostic criteria for spider bites are available. Diagnosis is usually clinical. Skin loxoscelism could be easily mistaken for cellulitis, various types of skin infections, cutaneous anthrax, vasculitis, scorpion sting, pyoderma gangrenosum, erythema migrans of Lyme disease or prurigo nodularis. A thorough anamnestic interview is fundamental to raise the diagnostic hypothesis. When possible, a biopsy is recommended and it is extremely important when the ulcer can mimic a cancer, as is the case in breast tissue. CONCLUSION: We recommend a wide excision of the wound after failure of conservative treatment, in order to obtain local control and to perform histological examination on a more representative specimen.

Impact of COVID-19 Pandemic on Surgical Breast Cancer Patients Undergoing Neoadjuvant Therapy: A Multicentric Study.

BACKGROUND/AIM: Due to the SARS-CoV-2 pandemic, many scientific committees proposed neoadjuvant therapy (NACT) bridging treatment as a novel strategy and indication. The aim of the study was to evaluate the impact of COVID-19 pandemic on breast cancer patients undergoing NACT. PATIENTS AND METHODS: All breast cancer patients referred to two Breast Units during COVID-19-pandemic were enrolled. RESULTS: Out of 814 patients, 43(5.3%) were enrolled in the COVID-19-group and compared with 94 (7.9%) similar Pre-COVID-19 patients. We observed a reduction in the number of patients undergoing NACT, p=0.0019. No difference was reported in terms of clinical presentation, indications, and tumor response. In contrast, a higher number of vascular adverse events was reported (6.9% vs. 0% p=0.029). Immediate breast cancer reconstructions following invasive surgery suffered a significant slowdown (5.9% vs. 47.7%, p=0.019). CONCLUSION: COVID-19 caused a reduction in the number of patients undergoing NACT, with no changes in terms of indications, clinical presentation, and tumor response. Furthermore, there was an increased incidence of vascular events.

COVID-19 in the tonsillectomised population.

OBJECTIVE: Interactions between SARS-CoV-2 and pharyngeal associated lymphoid tissue are thought to influence the manifestations of COVID-19. We aimed to determine whether a previous history of tonsillectomy, as a surrogate indicator of a dysfunctional pharyngeal associated lymphoid tissue, could predict the presentation and course of COVID-19. METHODS: Multicentric cross-sectional observational study involving seven hospitals in Northern and Central Italy. Data on the clinical course and signs and symptoms of the infection were collected from 779 adults who tested positive for SARS-CoV-2, and analysed in relation to previous tonsillectomy, together with demographic and anamnestic data. RESULTS: Patients with previous tonsillectomy showed a greater risk of fever, temperature higher than 39°C, chills and malaise. No significant differences in hospital admissions were found. CONCLUSIONS: A previous history of tonsillectomy, as a surrogate indicator of immunological dysfunction of the pharyngeal associated lymphoid tissue, could predict a more intense systemic manifestation of COVID-19. These results could provide a simple clinical marker to discriminate suspected carriers and to delineate more precise prognostic models.

Application of OSNA Nomogram in Patients With Macrometastatic Sentinel Lymph Node: A Retrospective Assessment of Accuracy.

INTRODUCTION: Almost 50% to 70% of patients who undergo axillary lymph node dissection (ALND) because of a single metastatic sentinel lymph node (SLN) have no further metastatic nodes at the axillary histology. On these grounds, the one-step nucleic acid amplification (OSNA) nomogram was designed and validated. As a mathematical model, calculated through tumor size (expressed in millimeters) and CK19 mRNA copy number, it is thought to predict nonsentinel lymph node (NSLN) status. The aim of the study is to verify the diagnostic accuracy of the OSNA nomogram in a group of patients with macrometastatic SLN, with a retrospective analysis. METHODS: The OSNA nomogram was retrospectively applied to a group of 66 patients with macrometastatic SLN who underwent ALND. The result of the final histology of the axillary cavity was compared to the nomogram prediction. We calculated the prevalence of NSLN metastasis in patients who underwent ALND, sensitivity and specificity, negative and positive predictive value of the nomogram. RESULTS: In patients with macrometastasis in SLN, the prevalence of patients with metastatic NSLN was 45%. The sensitivity of the nomogram was excellent (90%). The specificity was low (36%). Positive predictive value amounted to 54%, while negative predictive value was good (81%). CONCLUSIONS: These results suggest that the OSNA nomogram is a valid instrument that can help choose the best surgical strategy for the treatment of axillary cavity. The mathematical model is useful to avoid surgery in a selected group of patients because it accurately predicts NSLN status.

Delay in Breast Cancer Treatments During the First COVID-19 Lockdown. A Multicentric Analysis of 432 Patients.

BACKGROUND/AIM: Extraordinary restrictions aimed to limit Sars-CoV-2 spreading; they imposed a total reorganization of the health-system. Oncological treatments experienced a significant slowdown. The aim of our multicentric retrospective study was to evaluate screening suspension and surgical treatment delay during COVID-19 and the impact on breast cancer presentation. PATIENTS AND METHODS: All patients who underwent breast surgery from March 11, 2020 to May 30, 2020 were evaluated and considered as the Lockdown group. These patients were compared with similar patients of the previous year, the Pre-Lockdown group. RESULTS: A total of 432 patients were evaluated; n=223 and n=209 in the Lockdown and Pre-lockdown-groups, respectively. At univariate analysis, waiting times, lymph-nodes involvement and cancer grading, showed a statistically significant difference (p<0.05). Multivariate analysis identified waiting-time on list (OR=1.07) as a statistically significant predictive factor of lymph node involvement. CONCLUSION: Although we did not observe a clinically evident difference in breast cancer presentation, we reported an increase in lymph node involvement.

Post-surgical pyoderma gangrenosum of the breast: needs for early diagnosis and right therapy.

Post-surgical pyoderma gangrenosum (PSPG) of the breast is a rare dermatosis that worsens surgical manipulation, with a chronical relapsing course. Diagnosis is mostly clinical and made by exclusion after the failure of antibiotic therapies and surgical debridement, while the mainstay of therapy is corticosteroid-based. Here we report a case of PSPG of the breast in a young woman with breast cancer, to emphasize the needs of an early and accurate diagnosis, to guarantee the most efficacious treatment and to avoid life-threatening complications.

Breast tuberculosis: A case report of primary type mammary tuberculosis.

Mammary tuberculosis is exceptional in developed countries. It can mimic an abscess or a granulomatous mastitis. In subjects coming from endemic areas, it is necessary to suspect a tuberculosis infection in case of recurrent mastitis refractory to antibiotics. Positivity of Quantiferon-TB Gold assay can help to confirm the clinical suspicion.

Retained embolized fragment of totally implantable central venous catheter in right ventricle: it is really necessary to remove?

INTRODUCTION: Central venous catheters are often required in oncologic patients for long-term safe administration of chemotherapeutic agents, antibiotics, and parenteral nutrition. Rupture of these devices and intracardiac migration is a rare complication. METHODS: We report one spontaneous rupture and embolization of a totally implantable vascular access device (TIVAD) in an asymptomatic patient. RESULTS: A 50-year-old woman received a TIVAD silicone catheter 8 FR for adjuvant chemotherapy. After 3 years of port time in situ, during a follow-up control, a catheter malfunction was found and radiologic investigations showed a rupture and migration of the catheter to the right ventricle. The attempt to remove the fragment under fluoroscopic control using the femoral route was unsuccessful. We did not try a surgical approach because of the complete absence of symptomatology and hemodynamic impairment. CONCLUSIONS: The catheter rupture and intracardiac embolization is a rare complication associated with totally implantable or tunneled central venous catheters. When such an event happens, the patient should be managed by expert hemodynamists or interventional radiologists making an effort to remove the fragment without surgical measures. When the intravascular percutaneous route fails, the possibility to leave the fragmented catheter in heart chambers should be evaluated, being surgery questionable in asymptomatic patients.

Stump appendicitis: a rare and unusual complication after appendectomy. Case report and review of the literature.

INTRODUCTION: Stump appendicitis is a rare but important complication that can occour after an open or laparoscopic appendectomy. Although it represents a recognized serious condition that should not be overlooked, it is not often considered by surgeons within the differential diagnoses faced with a patient presenting right iliac fossa abdominal pain, particularly those who present a previous history of appendectomy. MATERIAL OF STUDY: A comprehensive review of English literature was performed and 87 cases of stump appendicitis were identified. Each case was charted based on 10 variables and data were analyzed. One original case of stump appendicitis after open appendectomy treated at our institution is also described and taken as a model. DISCUSSION: Several factors may contribute to the etiology of stump appendicitis, mainly related to the length of the residual tissue after appendectomy. A delay in diagnosis, possibly misled by a previous history of appendectomy, represents a risk of complications and possible stump perforation. The imaging studies, especially CT scan, seem to be helpful tools in getting the earliest possible diagnosis. CONCLUSION: Surgeons should be aware of the occurrence of this rare but dangerous entity, in order to avoid a delay in diagnosis and in the appropriate therapeutic choice. We want to emphasize also the technical recommendations to be respected in course of appendectomy. KEY WORDS: Appendectomy, Appendicular residue, Diagnosis, Stump appendicitis.