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.
: Hereditary ovarian tumour syndromes•About 23% of ovarian cancers are associated with hereditary conditions.•High grade serous type in BRCA & Endometrioid type ovarian cancers in Lynch syndromes.•Sertoli-Leydig cell tumors in DICER1 & ovarian fibromas in Gorlin-Goltz syndromes.•Steroid cell tumor & papillary cystadenomas in VHL.•Small cell carcinoma of the hypercalcemic type in rhabdoid tumor syndromes.
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).
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.
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.
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 (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.
•The lumbar artery perforator flap provides a durable solution with reliable blood supply to cover large defects regionally or reconstruct distant body structures, such as for breast reconstruction.•Using the flap with the largest diameter of a perforator provides the best results, however, controversy exists about which lumbar perforator is dominant in most patients.•Preoperative vascular imaging with CT or MRI can clearly identify the dominant perforator as well as, number of perforators, their course, and the location of lumbar fascia perforation.
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.
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.
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.
The combination of vandetanib and everolimus showed early activity and tolerable toxicity profile in pediatric patients with advanced cancers.
•Combination of vandetanib and everolimus is active in pediatric patients with advanced cancers.•Combination of vandetanib and everolimus has tolerable safety profile in pediatric patients with advanced cancers.•Exceptional responders harbored KDR Q472H mutation, CDKN2A/B loss, or ASPL/ASPSCR1-TFE3 fusion.
Biogenic Volatile Organic Compounds (BVOC) play a critical role in biosphere–atmosphere interactions and are key factors of the physical and chemical properties of the atmosphere and climate. ...However, few studies have been carried out at urban level to investigate the interactions between BVOC emissions and ozone (O3) concentration. The contribution of urban vegetation to the load of BVOCs in the air and the interactions between biogenic emissions and urban pollution, including the likely formation of O3, needs to be investigated, but also the effects of O3 on the biochemical reactions and physiological conditions leading to BVOC emissions are largely unknown. The effect of BVOC emission on the O3 uptake by the trees is further complicating the interactions BVOC–O3, thus making challenging the estimation of the calculation of BVOC effect on O3 concentration at urban level.
•We examine the role of BVOC emitted from urban trees for O3 formation in our cities.•We state that the high BVOC emitter trees are dangerous especially in VOC limited conditions for ozone formation.•We conclude that the choice of the tree species can be very important for the quality of the air in our cities.
BVOC emission from urban trees can be very important for ozone concentration.
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.
Aberrant expression of the mesenchymal epithelial transition factor (MET) gene has been observed in several malignancies, and drugs targeting the MET gene have been implicated in clinical trials with ...promising results. Hence, MET is a potentially targetable oncogenic driver. We explored the frequency of MET gene high copy number in melanomas and carcinomas.
The study group included 135 patients. Tissue microarrays were constructed with 19 melanomas and 116 carcinomas diagnosed from 2010 to 2012. We screened MET gene copy number by fluorescence in situ hybridization analysis using probes for MET gene and CEP7 as control.
We found MET gene amplification in 2 (11%) of 19 melanoma cases, whereas 5 (26%) of 19 melanoma cases showed polysomy. For carcinomas, there was no MET gene amplification identified. However, 8 (7%) of 116 cases showed polysomy.
In our study, MET gene amplification was identified in 11% of melanomas and is relatively concordant with few reported studies. However, about 26% of the additional melanoma cases showed MET gene polysomy, which has not been reported as per our knowledge. If these results are validated with further orthogonal studies, more of the melanoma cases could potentially benefit from targeted therapy with MET tyrosine kinase inhibitors.
Objective
To evaluate the imaging features of hepatic epithelioid hemangioendothelioma (HEH) on multiphasic CT, MR, and FDG-PET-CT.
Methods
Bi-institutional review identified 67 adults (mean age, ...47 years; 23 M/44 F) with pathologically proven HEH and pretreatment multiphasic CT (
n
= 67) and/or MR (
n
= 30) and/or FDG-PET-CT (
n
= 13).
Results
HEHs were multifocal in 88% (59/67). Mean size of the dominant mass was 4.1 cm (range, 1.4–19 cm). The tumors were located in the peripheral, subcapsular regions of the liver in 96% (64/67). Capsular retraction was present in 81% (54/67 cases) and tumors were coalescent in 61% (41/67). HEH demonstrated peripheral ring enhancement on arterial phase imaging in 33% (21/64) and target appearance on the portal venous phase in 69% (46/67). Persistent peripheral enhancement on the delayed phase was seen in 49% (31/63). On MR, multilayered target appearance was seen on the T2-weighted sequences in 67% (20/30) and on the diffusion-weighted sequences in 61% (11/18). Target appearance on hepatobiliary phase of MRI was seen in 57% (4/7). On pre-therapy FDG-PET-CT, increased FDG uptake above the background liver parenchyma was seen in 62% (8/13).
Conclusion
HEHs typically manifest as multifocal, coalescent hepatic nodules in peripheral subcapsular location, with associated capsular retraction. Peripheral arterial ring enhancement and target appearance on portal venous phase are commonly seen on CT. Similarly, multilayered target appearance correlating with its histopathological composition is typically seen on multiple sequences of MR including T2-weighted, diffusion-weighted, and dynamic contrast-enhanced multiphasic MR.
Key Points
• Hepatic epithelioid hemangioendotheliomas manifest on CT and MR as multifocal, coalescent hepatic nodules in peripheral subcapsular location, with associated capsular retraction.
• Enhancement pattern on contrast-enhanced CT and MR can vary but peripheral ring enhancement on arterial phase and target appearance on portal venous phase are commonly seen.
• Retrospective two-center study showed that cross-sectional imaging may help in the diagnosis.
Gynecologic malignancies are among the most common cancers in women worldwide and account for significant morbidity and mortality. Management and consequently overall patient survival is reliant upon ...early detection, accurate staging and early detection of any recurrence. Ultrasound, Computed Tomography (CT), Magnetic resonance imaging (MRI) and Positron Emission Tomography-Computed Tomography (PET-CT) play an essential role in the detection, characterization, staging and restaging of the most common gynecologic malignancies, namely the cervical, endometrial and ovarian malignancies. Recent advances in imaging including functional MRI, hybrid imaging with Positron Emission Tomography (PET/MRI) contribute even more to lesion specification and overall role of imaging in gynecologic malignancies. Radiomics is a neoteric approach which aspires to enhance decision support by extracting quantitative information from radiological imaging.
