Multisite analysis of high-grade serous epithelial ovarian cancers identifies genomic regions of focal and recurrent copy number alteration in 3q26.2 and 8q24.3.

High-grade serous epithelial ovarian cancer (HGS-EOC) is a systemic disease, with marked intra and interpatient tumor heterogeneity. The issue of spatial and temporal heterogeneity has long been overlooked, hampering the possibility to identify those genomic alterations that persist, before and after therapy, in the genome of all tumor cells across the different anatomical districts. This knowledge is the first step to clarify those molecular determinants that characterize the tumor biology of HGS-EOC and their route toward malignancy. In our study, -omics data were generated from 79 snap frozen matched tumor biopsies, withdrawn before and after chemotherapy from 24 HGS-EOC patients, gathered together from independent cohorts. The landscape of somatic copy number alterations depicts a more homogenous and stable genomic portrait than the single nucleotide variant profile. Genomic identification of significant targets in cancer analysis identified two focal and minimal common regions (FMCRs) of amplification in the cytoband 3q26.2 (region α, 193 kb long) and 8q24.3 (region ß, 495 kb long). Analysis in two external databases confirmed regions α and ß are features of HGS-EOC. The MECOM gene is located in region α, and 15 genes are in region ß. No functional data are yet available for the genes in the ß region. In conclusion, we have identified for the first time two FMCRs of amplification in HGS-EOC, opening up a potential biological role in its etiopathogenesis.

Outcomes of Bleomycin-based electrochemotherapy in patients with repeated loco-regional recurrences of vulvar cancer.

Objective To evaluate the safety, local tumor efficacy and relief of symptoms of electrochemotherapy (ECT) treatment in patients affected by recurrence of vulvar cancer (VC), unsuitable for standard treatments. Methods Ten patients were recruited with histological diagnosis of recurrence of VC. Intravenous bleomycin was injected, after an accurate mapping of all lesions and ECT was performed. Response to therapy was evaluated and quality of life (QoL) was evaluated via questionnaires. Results Diagnosis stage of primary tumors, according to the FIGO system, was: four patients respectively at stage IB (40%), and at stage II (40%), one patient at stage IIIA (10%), one patient with Paget cancer (10%). Mean age was 76 years (SD ± 7) at time of enrollment. Eight patients (80%) were previously submitted to surgery and/or radio-chemotherapy. Mean treatment time was 20 (range 10-20) min. After a median follow-up of 12 (3-22) months, six patients (60%) were alive. Conclusions Objective responses (ORs) with local control of the tumor were obtained in 80%. After a mean follow-up of 12 (3-22) months six patients (60%) were alive. The favorable outcome of this study, indicates that ECT is a reliable treatment option that may improve their functioning, thus enhancing the care provided in the palliative setting.

Isobaric laparoscopy using LaparoTenser system in surgical gynecologic oncology.

In this prospective analysis, the feasibility and outcome of isobaric laparoscopy in gynecologic oncology was evaluated. Total laparoscopic radical hysterectomy type A and B, with or without pelvic lymphadenectomy, according to the Querleu-Morrow classification was performed in 22 consecutive patients. Seven patients had early cervical cancer (adenocarcinoma stage 1B1 in 1, and squamous carcinoma stage 1B1 in 4, stage 1A2 in 1, and stage 1B2 in 1), and 15 patients had endometrial cancer (stage IA in 4, stage IB in 9, and stage IIIA in 2). Radical hysterectomy was performed using the LaparoTenser, a subcutaneous wall-lifting device. Visual analog score, duration of surgery, blood loss, complications, and postoperative course were recorded. Pathologic analysis confirmed the adequacy of the surgical specimens in type B radical hysterectomies and the number of lymph nodes removed. Low-pressure CO2 insufflation was us to improve field exposure in patients with high body mass index. Postoperatively, no patient reported substantial abdominal discomfort caused by lifting of the abdominal wall. Operative time, blood loss, and hospital stay were consistent with published data for CO2 laparoscopy. One complication related to insertion of the subcutaneous needle of the wall lifter occurred. We conclude that total laparoscopic radical hysterectomy can be successfully completed via isobaric laparoscopy using the LaparoTenser device in patients with early cervical and endometrial cancer. Gasless laparoscopy has become the first choice in our department to overcome the detrimental effects of pneumoperitoneum and represents a logical advance in the evolution of minimally invasive surgery. The LaparoTenser device is being used to perform increasingly complex procedures in high-risk patients and situations.

Primary pleural epithelioid angiosarcoma. A case report and review of the literature.

Malignant vascular tumors are uncommon sarcomas that arise from endothelial cells of small blood vessels and may affect every organ. Pleural localization is very exceptional, and only 48 cases have been reported in the English literature to date. Even if etiological factors implicated in the development of vascular sarcomas are still unclear, the strongest association with the disease was a history of chronic tuberculous pyothorax, observed only in Japanese patients, while prior radiotherapy and occupational exposure to asbestos have been reported in few Western cases. The mean age at diagnosis was 58 years, and the male to female ratio was 6:1. The overall prognosis was poor, and most of the patients died of disease soon after diagnosis. Histological features and clinical presentation often cause several problems in the differential diagnosis, particularly with mesothelioma and metastasis from poorly differentiated carcinomas. Immunohistochemistry plays an important role in identifying these rare entities, confirming the endothelial origin of the neoplasm with the expression of at least one of the vascular markers CD31, CD34, or factor VIII-related antigen. We report herein a further case of a 62-year-old man who presented with progressive dyspnea and bilateral massive hemothorax. The overall pathological and immunohistochemical features of the pleural specimens supported the diagnosis of epithelioid angiosarcoma.

Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.

Fatty liver disease is mainly caused by alcohol consumption, excessive body weight, dyslipidemia and impaired glucose tolerance, but inherited disorders can sometimes be involved. We report the case of a 40-year-old woman with steatohepatitis and severe portal hypertension, associated with ichthyosis, cataract and hypoacusia. The clinical, pathological and genetic findings were consistent with a diagnosis of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive inherited neutral lipid storage disorder, and genetic analysis showed that a novel ABHD5 mutation is responsible.