Hereditary ovarian tumour syndromes: current update on genetics and imaging.

Hereditary ovarian tumour syndromes are a diverse group of hereditary syndromes characterised by the development of specific histotypes of ovarian neoplasms. While BRCA syndromes are exclusively associated with high-grade serous carcinomas, patients with Lynch syndrome show a preponderance of endometrioid subtype of ovarian and endometrial carcinomas. Distinct non-epithelial phenotypes, such as sex cord stromal tumours with annular tubules, Sertoli-Leydig cell tumours, and small cell carcinoma of the hypercalcaemic type occur in patients with Peutz-Jeghers, DICER1, and rhabdoid tumour predisposition syndromes, respectively. Gorlin-Goltz syndrome is characterised by the development of bilateral, multiple ovarian fibromas in 14-24% of patients. Ovarian steroid cell tumours and broad ligament papillary cystadenomas are characteristically found in women with von Hippel-Lindau syndrome. Recent studies have allowed the characterisation of tumour genetics and associated oncological pathways that contribute to tumourigenesis. Implications of the diagnosis of these syndromes on screening, management, and prognosis are discussed.

Desmoplastic Small Round Cell Tumor: Imaging Pattern of Disease at Presentation.

OBJECTIVE: The purpose of this study is to evaluate the clinical, pathologic, and multimodality cross-sectional imaging features of a cohort of 94 patients with desmoplastic small round cell tumor (DSRCT). MATERIALS AND METHODS: This retrospective study of 94 patients with pathologically verified DSRCT was conducted at a tertiary cancer center between 2001 and 2013. Epidemiologic, clinical, pathologic, and imaging findings were recorded. Tumor size, location, and shape and the distribution pattern of metastases at presentation were analyzed. RESULTS: DSRCT most often occurred in young patients (median age, 21.5 years; range, 5-53 years), showing a marked predominance in male patients (86 male patients vs eight female patients). Eighty nine-patients (95%) were white (defined in this study as white or Hispanic), four were African American, and one was of Asian descent. Most patients had symptoms, with abdominal pain noted as the most common symptom. At initial presentation, 85 patients (90%) had multifocal disease, nodular disease, diffuse omental and peritoneal disease, or a combination of these conditions. Thirty-eight patients (40%) had diaphragmatic involvement. Thirty-two patients (34%) had liver metastases, and 49 patients (52%) had retroperitoneal involvement in the form of implants, tumoral extension, or nodal involvement. With regard to thoracic findings, 33 patients (35%) had nodal disease, 17 (18%) had pleural effusions, and only two (2%) had lung metastases at presentation. Twelve patients (13%) had calcified lesions. CONCLUSION: DSRCT is a rare, multifocal peritoneal malignancy with frequently disseminated abdominal disease at presentation. In the abdomen, disease most commonly involves the omentum and peritoneum, followed by the retroperitoneum. The liver is the most common solid visceral metastatic site. A substantial number of patients have diaphragmatic involvement. In the thorax, nodal and pleural involvement is more common than lung involvement.

The lumbar artery perforator flap: clinical review and guidance on image reporting.

The lumbar artery perforator (LAP) flap is a relatively new procedure that can be utilized to manage lumbosacral defects in addition to reconstructing distal body parts as well, such as breast reconstruction. This fasciocutaneous flap is designed based on the LAPs small arteries that emerge from the lumbar arteries then move superficially piercing overlying tissues to perforate the lumbar fascia and supply the skin and subcutaneous tissue; However, anatomical and clinical studies regarding the LAP flap and its perforators are sparse in the literature, and the results are even contradicting. This article will discuss the LAP flap, the anatomy of its perforators, and the clinical aspects about its usage. In addition, we explore its preoperative imaging evaluation, and deliver a guide on image reporting and radiological data that will benefit the surgeon most during the procedure.

Everolimus in combination with vandetanib in children, adolescents, and young adults: a phase I study.

BACKGROUND: Combined use of inhibitors of mammalian target of rapamycin (mTOR) and vascular endothelial growth factor (VEGF-2) receptors is a potential strategy to overcome resistance to either class of drugs when used alone. PATIENTS AND METHODS: We designed a phase 1 trial to test the drug combination of a multikinase VEGF receptor 2 inhibitor, vandetanib, and an mTOR inhibitor, everolimus, in a pediatric and young adult patient cohort with advanced cancers. Exceptional responders were probed for tumor mutational profile to explore possible molecular mechanisms of response. RESULTS: Among 21 enrolled patients, clinical benefit was observed in 38% (one patient with partial response and eight patients with stable disease) with a median progression-free survival of 3.3 months. The most common treatment-related adverse event was rash (n = 13). Other treatment-related toxicities included diarrhea, fatigue, hypertension, QT prolongation, hypertriglyceridemia/hypercholesterolemia, transaminitis, thrombocytopenia, and weight loss. None of the patients experienced dose-limiting toxicities. Three exceptional responders were analyzed and were found to harbor genetic alterations including kinase insert domain receptor (KDR) Q472H mutation, EWSR1-CREB3L1, CDKN2A/B loss, and ASPL/ASPSCR1-TFE3 fusion. CONCLUSIONS: The combination of vandetanib and everolimus showed early activity and tolerable toxicity profile in pediatric patients with advanced cancers.

The CT appearances of gallbladder perforation.

Perforation of the gallbladder is an uncommon complication of acute cholecystitis that is associated with relatively high mortality. Symptoms and clinical signs can be indistinguishable from those of uncomplicated acute cholecystitis, leading to delayed diagnosis. We reviewed the clinical and imaging findings in 17 patients with gallbladder perforation confirmed at surgery.

Blood-fluid levels in the brain.

17 cases reviewed prospectively over a period of 4 months highlight the varied appearance of blood-fluid levels in intracranial cystic lesions of different aetiologies; a finding which has not featured significantly in the medical literature. Four types of intracranial cysts demonstrating blood-fluid levels have been categorised according to the nature of the pathology, i.e. primary neoplasms of the brain, metastatic deposits to the brain in cases of extraneural malignancies, lesions of vascular aetiology and intraparenchymal bleeds secondary to trauma. The group of four primary intracranial neoplasms lists an oligodendroglioma, a recurrent tumour in a case of Von Hippel-Lindau syndrome, a Grade 3 astrocytoma and an acoustic schwannoma. Four cases of metastatic deposits to the brain were each secondary to primary malignant neoplasms of the breast, liver, ovary and lung. Of seven cases of a vascular aetiology, three resulted from arterial infarction, two from hypertension and one each from venous infarction and following anticoagulant therapy. Intracranial cysts within tumours have been postulated to occur secondary to a breakdown of the blood-brain barrier (BBB) rather than as a result of tumoural degeneration, as was thought probable earlier.