A novel BRCA2 pathogenic variant c.7094_7100del (p.His2365LeufsTer9) in an Italian family with hereditary breast cancer.

BACKGROUND: Breast cancer is the most common type of malignancy and the foremost cause of tumor-related death in women. The two most well-known genes linked to hereditary breast cancer are BRCA1 (MIM#113705) and BRCA2 (MIM#600185). Germline mutations in the tumor-suppressor genes are found in a proportion of this group. CASE REPORT: Family history of breast and ovarian cancer, early-onset breast cancer, and ethnicity constitute the basic criteria for identifying cases affected by BRCA1 or BRCA2 mutations. This study reports a novel BRCA2 pathogenic variant c.7094_7100del (p.His2365LeufsTer9), identified in a family from Basilicata, Italy, with a history of hereditary breast cancer. Genetic tests are available to predict the risk of developing cancer, particularly in cases of hereditary cancer, the predisposition to cancer, and the target organs. CONCLUSIONS: The identification of this variant expands the spectrum of BRCA2 mutations associated with hereditary breast cancer and highlights the importance of genetic testing and counseling for families with a history of breast cancer.

[Primary anastomosis in the neoplastic colonic obstruction]. / L'anastomosi primaria nell'occlusione colica neoplastica.

The authors report their own experience on the treatment of large bowel obstruction caused by a neoplastic stenosis. During a 36-month period 110 operations for emergency large bowel obstructions were performed: 59 (53.6%) underwent primary anastomosis without colostomy (28 right colectomy, 16 left colectomy, 9 sub-total and 6 total colectomy). Total group post-operative mortality was 2.9% as a result of cardio-pulmonary complications. Morbidity was 19.8%, included a 3% of anastomotic leak underwent surgical treatment. Our results suggest that resection and primary anastomosis can be performed with acceptable morbidity and mortality in a high proportion of cases of emergency large bowel obstructions.

[Abdominal lymphoma with abscess and thoracic perforation: en-bloc resection]. / Linfoma addominale ascessualizzato e perforato in torace: resezione "en-bloc".

The authors compare a rare case of acute onset Gastric Lymphoma with that present in the literature. The patient, a white 67 year-old man, was admitted to hospital in severe general condition. On CT scan an opacity of the pleura and a subtotal collapse of the left lung associated with a mass infiltrating the diaphragm, the gastric fundus and pancreas were seen. After 48 hours from the admission an operation was performed. The abdominal mass infiltrating the stomach, the spleen and the left thorax was resected en-bloc by laparotomy. A Boulau drainage was inserted. The histology showed an high malignant, diffused, big cell lymphoma. The patient was discharged 23 days later after a regular postoperative course. Surgery can be necessary, sometime curative in gastric lymphomas while long term result and quality of life could be improved by chemotherapy.