Neuroendocrine Breast Tumors: Could Multigene Assays Help in Guiding Treatment Decisions? Case Presentation.

BACKGROUND/AIM: Breast cancer remains the most prevalent type of cancer among women worldwide, and it remains the primary cause of cancer-related deaths in this demographic. Neuroendocrine breast cancer (NBC), an uncommon subtype comprising less than 1% of cases, typically occurs in older women and displays as a slow-growing, low-grade condition. NBC exhibits distinct histological patterns and immunohistochemical markers. Given the limited data on NBC, assays are required that will provide information on molecular profiling and assist in clinical decision making. The aim of the study was to investigate whether a modern Multigene Assay (MGA) could assist on treatment planning of NBC patients. CASE REPORT: A cohort of four patients was analyzed using a MGA. The presented cases featured young, pre-menopausal women with clear NBC, lacking family history. All were lymph node-negative, with robust expression of neuroendocrine markers. Despite high hormone receptor expression, all tumors were poorly differentiated with elevated Ki67 levels. Oncotype DX analysis indicated a need for chemotherapy in three cases and not in one. This underscores the heterogeneity within NBC, emphasizing the importance of personalized treatment decisions. CONCLUSION: While NBC is rare and lacks extensive studies, the use of multigene assays like Oncotype DX may play a pivotal role in treatment planning, especially in cases with varying histological parameters.

Septotemporal variation of information processing in the hippocampus of Fmr1 KO rat.

Introduction Fragile X messenger ribonucleoprotein (FMRP) is a protein involved in many neuronal processes in the nervous system including the modulation of synaptic transmission. Loss of FMRP produces the fragile X syndrome (FXS), a neurodevelopmental disorder affecting synaptic and neuronal function and producing cognitive impairments. However, the effects of FXS on short-term processing of synaptic inputs and neuronal outputs in the hippocampus have not yet been sufficiently clarified. Furthermore, it is not known whether dorsal and ventral hippocampus are affected similarly or not in FXS. Method We used a Fmr1 knock-out (KO) rat model of FXS and recordings of evoked field potentials from the CA1 field of transverse slices from both the dorsal and the ventral hippocampus of adult rats. Results Following application of a frequency stimulation protocol consisting of a ten-pulse train and recordings of fEPSP, we found that the dorsal but not ventral KO hippocampus shows altered short-term synaptic plasticity. Furthermore, applying the frequency stimulation protocol and recordings of population spikes, both segments of the KO hippocampus display altered short-term neuronal dynamics. Conclusions These data suggest that short-term processing of synaptic inputs is affected in the dorsal, not ventral FXS hippocampus, while short-term processing of neuronal output is affected in both segments of the FXS hippocampus in a similar way. These FXS-associated changes may have significant impact on the functions of the dorsal and ventral hippocampus in individuals with FXS.

Joint entropy analysis of anterior-posterior and medial-lateral body sway.

We studied the Shannon entropy of center of pressure (COP) trajectories under different sensory feedback conditions and analyzed the interrelations between medial-lateral (ML), anterior-posterior (AP) and joint (ML and AP) sway entropy. Static balance was assessed on a force platform under different visual and proprioceptive feedback conditions: Standing on firm support with eyes open (condition 1) or closed (condition 2) and standing on foam with eyes closed (condition 3). Postural sway was analyzed by means of linear and nonlinear, information theoretic metrics (entropy of ML and AP sway, joint ML and AP entropy). ML entropy, AP entropy and joint ML and AP entropy remained stable from condition 1 through condition 3. The values of ML and AP entropies were practically at their theoretical maximum in all conditions. On the other hand, joint ML and AP entropies were clearly submaximal. Decreasing the reliability of visual and proprioceptive input does not alter the Shannon entropy of body sway, although it does increase the magnitude of conventional linear sway metrics. Importantly, individual ML and AP sway entropies tend towards absolute randomness, whereas the joint, ML and AP, sway entropy exhibits a higher degree of regularity, suggesting its role as the actual controlled variable.

A spontaneously ruptured primitive neuroectodermal tumor/extraosseous Ewing's sarcoma of the kidney with renal vein tumor thrombus.

Primitive neuroectodermal tumor/extraosseous Ewing's sarcoma (PNET/EES) is a childhood disease rarely seen in adults. It is a soft tissue tumor, which is often observed in the paraspinal region and lower extremity. We report the case of a 32-year-old man who presented with sudden abdominal pain on the right upper quadrant that was radiated to the right flank. During the operation, a spontaneously ruptured right kidney mass was found. The histopathologic and immunohistochemical characteristics of the excised mass were consistent with PNET/EES. This is the first known reported case of spontaneously ruptured PNET/EES of the kidney with renal vein tumor thrombus. The clinical details and the management of this case are described.

Evaluation of the prognostic value of HER-2 and VEGF in breast cancer patients participating in a randomized study with dose-dense sequential adjuvant chemotherapy.

PURPOSE: To assess the prognostic and predictive significance of HER-2 overexpression and high expression of VEGF in high-risk patients with breast cancer treated with dose-dense sequential chemotherapy. PATIENTS AND METHODS: From June 1997 until November 2000, 595 patients were randomized to three cycles of epirubicin (E) 110 mg/m2 followed by three cycles of paclitaxel (T) 250 mg/m2 followed by three cycles of "intensified" CMF (cyclophosphamide 840 mg/m2, methotrexate 47 mg/m2 and fluorouracil 840 mg/m2) or to four cycles of E, followed by four cycles of CMF. HER-2 was assessed by immunohistochemistry (IHC) in 394 patients, and by fluorescence in situ hybridization (FISH) in cases scored as 2+ by IHC. VEGF was evaluated in 323 patients by IHC. RESULTS: HER-2 overexpression was detected in 123 patients (31%) and high expression of VEGF in 233 (72%). The rate of HER-2 overexpression was significantly higher in patients with positive VEGF staining (35% vs. 21%, p=0.02). Overexpression of HER-2 was significantly associated with negative hormonal status, high histologic grade and larger tumors. HER-2 overexpression was a significant negative predictor of DFS (p=0.002), but not of OS. Adjusting for HER-2 overexpression, DFS and OS did not significantly differ between treatment groups. Positive VEGF staining was not associated with receptor status, number of positive nodes, grade, tumor size, incidence of relapse or death. CONCLUSIONS: For both treatments, HER-2 overexpression was a significant negative prognostic factor for DFS but not for OS, while high expression of VEGF was not significantly associated to either DFS or OS. No predictive ability of HER-2 status or VEGF overexpression for T treatment was evident.

Familial bilateral acinic cell carcinoma of the parotid synchronous with pituitary adenoma: case report.

BACKGROUND: Acinic cell carcinoma is a common neoplasm of the salivary glands that occurs predominately in the parotid. Only one case of a familial recurrence of such a neoplasm and 16 cases of bilateral tumors have been reported. METHODS: History files and histologic reports of a patient with bilateral multifocal acinic cell carcinoma of the parotid and a synchronous pituitary adenoma, and of the patient's sister and his father, also treated for parotid tumours, were retrieved. RESULTS: There was one recurrence of acinic cell carcinoma in the family. A pituitary tumor was a chromophobe gonotrophic adenoma. CONCLUSIONS: This is the 17th case of bilateral acinic cell carcinoma of the parotid gland and the second reported case with a familial recurrence. It is the first with a synchronous pituitary adenoma.

Primary Malignant Melanoma of the Lung: A Case Report.

BACKGROUND: Primary melanoma of the lung is an extremely rare pathological entity and sparsely reported in the literature. CASE PRESENTATION: A case of primary malignant melanoma of the lung in a 41-year-old female is reported. The clinical, radiological and histopathological features are discussed. The initial symptom was cough, whereas the chest radiography showed a round opacity of the right lung. The computed tomography of the chest revealed a well-demarcated mass lesion in the right upper lobe. Endobronchial mass causing obstruction of the upper lobar bronchus was the bronchoscopic finding. Patient underwent pneumonectomy. A diagnosis of melanoma was confirmed postoperatively after the immunohistochemistry. Primary nature of the tumour in the lung results from the demonstration of characteristic junctional pattern of melanoma cells beneath the bronchial epithelium on histopathology, and from exclusion of other potential primary sites in the clinical, paraclinical and laboratory examination. CONCLUSIONS: Primary melanoma of the lung represents a rare pathological entity. Careful interpretation of histopathological information in correlation with all other findings from clinical and paraclinical studies can establish a diagnosis. Follow-up is necessary in order to diagnose potential dissemination or secondary sites of the disease. Due to the small number of cases reported in the literature, there is no experience on the management and the prognosis of the disease, but surgical resection remains the cornerstone of the treatment.