Apparent diffusion coefficient as a non-invasive predictor of treatment response and recurrence in locally advanced rectal cancer.

AIM: To evaluate the role of pretreatment apparent diffusion coefficient (ADC) as a predictor of treatment response and local recurrence in patients with locally advanced rectal cancer who underwent neoadjuvant therapy. MATERIALS AND METHODS: Forty-nine patients who underwent preoperative diffusion-weighted magnetic resonance imaging (MRI) followed by neoadjuvant chemoradiation and surgery were enrolled in the study. The mean tumour ADC was measured independently from multiple, non-overlapping regions of interest (ROIs) to cover the entire tumour area on a single section by two radiologists and patients were followed postoperatively for a median of 16.4 months. Diagnostic accuracy of ADC for predicting treatment response and recurrence was evaluated using the area under the receiver-operating characteristic (ROC) curve, sensitivity, specificity, and predictive values. Univariate and multivariate analyses including clinical tumour (cT) staging, carcinoembryonic antigen (CEA) level, lymph-node involvement, tumour grade, surgical margin, vascular involvement, and ADC were performed with respect to recurrence. Interobserver agreement of ADC values was assessed. RESULTS: Twenty patients showed response to neoadjuvant therapy and recurrence was noted in 17 patients. Low pretreatment ADC, MRI findings of cT4 staging, and node involvement were significantly related to poor treatment response. Sensitivity and specificity of ADC = 0.833 × 10(-3) mm(2)/s for prediction of treatment response was 75 and 48% for reader 1 and 65 and 52% for reader 2, respectively. Univariate and multivariate analyses identified pretreatment tumour ADC as the only predictive factor for recurrence. Sensitivity and specificity of ADC = 0.833 × 10(-3) mm(2)/s for prediction of recurrence was 86 and 77% for reader 1 and 80 and 69% for reader 2, respectively. Interobserver agreement for measuring ADC was good with a kappa value of 0.70. CONCLUSION: Pretreatment rectal tumour ADC values may be an early biomarker for predicting treatment response and local recurrence in patients who underwent neoadjuvant chemoradiation.

Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis.

Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. A retrospective review of the clinical records and radiological images of 205 patients with tuberous sclerosis complex (TSC) was performed to evaluate the prevalence and progression of hepatic lesions; examine the association of hepatic phenotype with genotype, age, and gender; and investigate the relationships between hepatic, renal, and pulmonary involvement. Hepatic angiomyolipomas (AML), cysts, and other benign lesions were identified in 30% of the cohort, and some lesions grew significantly over time. However, no patient had clinical symptoms or complications from hepatic lesions. TSC2 patients exhibited a higher frequency of AML compared to TSC1 patients (p = 0.037), and patients with no mutation identified exhibited a higher frequency of cysts compared to TSC2 patients (p = 0.023). Age was positively correlated with frequency of hepatic involvement (p < 0.001), whereas hepatic phenotype was independent of gender. Presence of hepatic AML was associated with presence of renal AML (p = 0.001). These findings confirm a high rate of asymptomatic hepatic lesions in TSC and further characterize the TSC phenotype.

Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex.

We explored pancreatic neuroendocrine tumors (PanNETs) associated with tuberous sclerosis complex (TSC) to determine their incidence in the TSC population; define their clinical, radiological, and pathological characteristics; and investigate their association with underlying genotypes. Retrospectively reviewed abdominal imaging of 219 patients with TSC, evaluating the incidence, size, and architecture of pancreatic lesions. Pathology records at Massachusetts General Hospital (MGH) were reviewed for all PanNET diagnoses in patients with TSC. Literature was reviewed for TSC-related PanNET cases. Nine patients with TSC were found to have a pancreatic lesion(s) on abdominal imaging and six patients have been diagnosed with a PanNET by pathology at MGH. Twelve cases of TSC-associated PanNETs have been reported in the literature. Of these 18 PanNET cases, one third were cystic, and the average age at resection was 26 years. Germline TSC2 mutations were found in all patients for whom genetic data were available (n = 3). We did not identify pancreatic angiomyolipomas in this series. Our results suggest that PanNETs are the most common pancreatic lesion in patients with TSC. Focal pancreatic mass lesions, solid or cystic, in patients with TSC should be considered possible PanNETs, and resection of the lesion may be clinically indicated.