Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward.

The incidence of pediatric adrenocortical tumors (ACT) is high in southern Brazil due to the founder TP53 R337H variant. Neonatal screening/surveillance (NSS) for this variant resulted in early ACT detection and improved outcomes. The medical records of children with ACT who did not participate in newborn screening (non-NSS) were reviewed (2012-2018). We compared known prognostic factors between the NSS and non-NSS cohorts and estimated surveillance and treatment costs. Of the 16 non-NSS children with ACT carrying the R337H variant, the disease stages I, II, III, and IV were observed in five, five, one, and five children, respectively. The tumor weight ranged from 22 to 608 g. The 11 NSS children with ACT all had disease stage I and were alive. The median tumor weight, age of diagnosis, and interval between symptoms and diagnosis were 21 g, 1.9 years, and two weeks, respectively, for the NSS cohort and 210 g, 5.2 years, and 15 weeks, respectively, for the non-NSS cohort. The estimated surveillance/screening cost per year of life saved is US$623/patient. NSS is critical for improving the outcome of pediatric ACT in this region. Hence, we strongly advocate for the inclusion of R337H in the state-mandated universal screening and surveillance.

Multidisciplinary Clinics for Colorectal Cancer Care Reduces Treatment Time.

INTRODUCTION: Management of locally advanced and metastatic colorectal cancer (CRC) requires the expertise of multiple specialists. Multidisciplinary clinics (MDCs) are a working model designed to facilitate delivery of coordinated care. The present study evaluated the effects of MDC on the time to treatment (TTT). PATIENTS AND METHODS: Patients with CRC or locally advanced anal cancer who were evaluated at a single-institution MDC from January 2014 to October 2015 were identified from an institutional registry. The clinical characteristics and timelines for various aspects of treatment were retrospectively reviewed and recorded. A control population of patients not evaluated at the MDC was matched 1:2 by disease and the number of treating specialties. The primary endpoints were the TTT from diagnosis and the TTT from the first consultation. RESULTS: A total of 105 patients were included: 35 were evaluated at the MDC and 70 were controls. The MDC patients experienced a 7.8-day shorter TTT from the first consultation (21.5 vs. 29.3 days; P = .01). The difference was greater for patients visiting 3 departments (21.3 vs. 30.6 days; P < .001). Patients requiring neoadjuvant chemoradiation accounted for most of the decreased interval compared with those requiring surgery alone as their first treatment. The proportion of patients initiating treatment within 3 weeks from the first consultation was greater for those seen in the MDC (57.1% vs. 30% for controls; P = .01). CONCLUSION: Implementation of a multidisciplinary CRC clinic yielded decreased intervals from the first consultation to treatment in our institution. Focusing efforts to increase MDC usage will improve treatment efficiency and improve patient access.