Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome characterized by skin piloleiomyomas, uterine leiomyomas and papillary type 2 renal cancer caused by germline mutations in the fumarate hydratase (FH) gene. Previously, we proposed renal imaging for FH mutation carriers starting at the age of 20 years. However, recently an 18-year-old woman from a Dutch family with HLRCC presented with metastatic renal cancer. We describe the patient and family data, evaluate current evidence on renal cancer risk and surveillance in HLRCC and consider the advantages and disadvantages of starting surveillance for renal cancer in childhood. We also discuss the targeted therapies administered to our patient

Measuring intraobserver and intermethod reliability of endometriotic cyst volumes: A comparison between MRI and 3D transvaginal ultrasound in endometriosis

Objectives: To identify the intraobserver and intermethod reliability of three-dimensional transvaginal ultrasound (3D-TVUS) using the software VOCAL and XI VOCAL compared with magnetic resonance imaging (MRI) for volumetric measurement of ovarian endometrioma. Methods: The intermethod and intraobserver reliability of endometrioma volumes were assessed in 16 women diagnosed with endometriosis through laparoscopy with histologic confirmation and presenting with uni- or bilateral endometriomas. In total, volumes of 23 endometriomas were assessed with two-dimensional and three-dimensional transvaginal ultrasound and 6 mm magnetic resonance imaging. Examinations took place at two moments in one menstrual cycle: day 2–4 (T0) and day 20–22 (T1). Results: The intraclass correlation for intraobserver reliability is good to very good for all three techniques ranging from the lowest value of 0.953 to the highest of 1.000. MRI has the most narrow limits of agreement (−3.93 to 4.53), followed by XI VOCAL (−5.16 to 5.65) while VOCAL has the widest limits of agreement (−10.22 to 11.39). Intraclass correlations are poor in the comparison of XI VOCAL to MRI, moderate between VOCAL and XI VOCAL, and good for the comparison between VOCAL and MRI. Limits of agreement vary per technique. When comparing 3D imaging techniques with 2D TVUS, XI VOCAL versus 2D TVUS provide the smallest limits of agreement. Conclusions: MRI and XI VOCAL provide the best intraobserver reliability. The different imaging techniques are not interchangeable. As TVUS is a more readily available and cost-efficient imaging technique the usage of XI VOCAL is advised

The clinical suspicion of a leaking intrathoracic esophagogastric anastomosis: The role of CT imaging

Background: CT imaging is the primary diagnostic approach to assess the integrity of the intrathoracic anastomosis following Ivor Lewis esophagectomy. In the postoperative setting interpretation of CT findings, such as air and fluid collections, may be challenging. Establishment of a scoring system that incorporates CT findings to diagnose anastomotic leakage could assist radiologists and surgeons in the postoperative phase. Methods: Consecutive patients who underwent a CT scan for a clinical suspicion of postoperative anastomotic leakage following Ivor Lewis esophagectomy between 2010 and 2016 in two medical centers were retrospectively included. Scans were excluded when oral contrast was not (correctly) administered. Acquired images were randomized and independently assessed by two experienced gastrointestinal radiologists, blinded for clinical information. For this study anastomotic leakage was defined as a visible defect during endoscopy or thoracotomy. Results: A total of 80 patients had 101 CT scans, resulting in 32 scans with a confirmed anastomotic leak (25 patients). After multivariable backward stepwise logistic regression, a practical 5-point scoring system was developed, which included the following CT findings: presence of extraluminal oral contrast, air collection at the anastomotic site, fluid collection at the anastomotic site, pneumothorax and loculated pleural effusion. Patients with a score of ≥3 were considered at high risk for anastomotic leakage (positive predictive value: 83.3%), patients with scores <3 were considered at low risk for anastomotic leakage (negative predictive value: 84.4%). The scoring system showed a superior diagnostic performance compared to the original CT report and blinded interpretation of two radiologists. Conclusions: Our CT-based practical scoring system enables a standardized approach in CT assessment and could facilitate early recognition of anastomotic leakage in patients after Ivor Lewis esophagectomy

T1 hypointense lesions in secondary progressive multiple sclerosis: effect of interferon beta-1b treatment

Recently, the clinical efficacy of interferon β-1b (IFNβ-1b) was demonstrated for secondary progressive (SP) multiple sclerosis in a European multicentre study. We evaluated the effect of IFNβ-1b treatment on the rate of development of hypointense T1 MRI lesions, a putative marker of axonal damage. Unenhanced T1-weighted images were obtained in a subgroup of 95 multiple sclerosis patients from five centres at 6-month intervals; this subgroup was similar to the total study population for all demographic, clinical and MRI parameters. An experienced observer blinded to the clinical data and treatment allocation measured volumes. The median baseline lesion load for hypointense T1 lesions was 5.1 cm3 for placebo-treated and 4.9 cm3 for IFNβ-1b-treated patients (P = 0.56). Placebo-treated patients showed an increase in T1 lesion load by a median of 14% per year (P = 0.0002 compared with baseline); this was reduced to 7.7% per year in the IFNβ-1b-treated patients (P = 0.003 versus placebo). In the IFNβ-1b arm there was a statistically significant correlation between absolute change in Expanded Disability Status Scale scores and T1 lesion load by month 36 (r = 0.38, P = 0.0015). In patients with SP multiple sclerosis, IFNβ-1b treatment reduces the development of hypointense T1 lesions, suggesting that reduced axonal damage in lesions may play a part in the beneficial effect that is observed clinicall

Comparison of 4- and 64-slice CT scanning in the diagnosis of pulmonary embolism

With the introduction of multi-detector row CT (MDCT), sensitivity to diagnose pulmonary embolism (PE) has greatly improved. The use of newer generation CT-scans may lead to a higher prevalence and a different distribution of PE. We compared 64-slice with 4-slice MDCT regarding prevalence and distribution of PE, the number of inconclusive test results and inter-reader variability. CT-scans from a random sample of 110 consecutive patients who underwent 4-slice CT-scanning were compared with 64-slice CT-scans from 107 patients from a second cohort. Three radiologists independently reassessed all CT-scans. Consensus was reached in case of disagreement between the readers. Final diagnosis of PE was categorised as central, segmental or subsegmental by the thrombus' most proximal end. The prevalence of PE was 24% (26/110, 95% confidence interval [CI] 17-32%) and 22% (24/107, 16-31%) for the 4-slice and 64-slice cohort, respectively. The prevalence of isolated subsegmental emboli was 2/26 (7.7%; 2.1-24%) and 5/24 (21%; 9.2-41%), respectively (p=0.424). The number of inconclusive scans was 10% in both cohorts, mostly due to movement artefacts and suboptimal intravascular contrast, respectively. The inter-reader agreement between the three readers was 0.70 for the 4-slice scans and 0.68 for the 64-slice scans. Although absolute prevalence of PE was equal in both cohorts, there was a trend towards more subsegmental PE with 64-slice CT. In a multi-reader setting, the number of inconclusive examinations was higher than quoted for clinical management studies, indicating that the diagnosis of PE with MDCT could be less straightforward than assume