Activity

The goals of this project were to assess the status of NCI’s rare cancer-focused population science research managed by the Division of Cancer Control and Population Sciences (DCCPS), to develop a framework for evaluation of rare cancer research activities, and to review available resources to study rare cancers.

Cancer types with an overall age-adjusted incidence rate of less than 20 cases per 100,000 individuals were identified using NCI Surveillance, Epidemiology and End Results (SEER) Program data. SEER data were utilized to develop a framework based on statistical commonalities. A portfolio analysis of DCCPS-supported active grants and a review of three genomic databases were conducted.

For the 45 rare cancer types included in the analysis, 123 active DCCPS-supported rare cancer-focused grants were identified, of which the highest percentage (18.7%) focused on ovarian cancer. The developed framework revealed five clusters of rare cancer types. The cluster with the highest number of grants (

= 43) and grants per cancer type (10.8) was the cluster that included cancer types of higher incidence, average to better survival, and high prevalence (in comparison with other rare cancers). Resource review revealed rare cancers are represented in available genomic resources, but to a lesser extent compared with more common cancers.

This article provides an overview of the rare cancer-focused population sciences research landscape as well as information on gaps and opportunities.

The findings of this article can be used to develop efficient and comprehensive strategies to accelerate rare cancer research.

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The findings of this article can be used to develop efficient and comprehensive strategies to accelerate rare cancer research.See related commentary by James V. Lacey Jr, p. 1300.

Appendiceal cancer incidence among individuals age < 50 years (early-onset appendiceal cancer) is rising with unknown etiologies. Distinct clinicopathologic/demographic features of early-onset appendiceal cancer remain unexplored. We compared patterns of appendiceal cancer among individuals by age of disease-onset.

Using the NIH/NCI’s Surveillance, Epidemiology, and End Results program data, we identified individuals age 20+ years diagnosed with appendiceal cancer from 2007 to 2016. Cochran-Armitage trend tests and multinomial logistic regression models were used to examine age-related differences in clinicopathologic/demographic features of appendiceal cancer.

We identified 8,851 patients with appendiceal cancer during the 10-year study period. Histologic subtype, tumor grade, stage, sex and race/ethnicity all significantly differed by age of appendiceal cancer diagnosis. After adjustment for race/ethnicity, sex, stage, insurance status, and tumor grade, young patients were 82% more likely to be Hisin young patients, with implications for appendiceal cancer prevention, detection, and treatment.

Early-onset appendiceal cancer determinants can inform discovery of risk factors and molecular biomarkers of appendiceal cancer in young patients, with implications for appendiceal cancer prevention, detection, and treatment.

Peripheral intravenous catheters (PIVCs) are medical devices used to administer intravenous therapy but can be complicated by soft tissue or bloodstream infection. Monitoring PIVC safety and quality through clinical auditing supports quality infection prevention however is labour intensive. We sought to determine the optimal patient ‘number’ for clinical audits to inform evidence-based surveillance.

We studied a dataset of cross-sectional PIVC clinical audits collected over five years (2015-2019) in a large Australian metropolitan hospital. Audits included adult medical, surgical, women’s, cancer, emergency and critical care patients, with audit sizes of 69-220 PIVCs. The primary outcome was PIVC complications for one or more patient reported symptom/auditor observed sign of infection or other complications. Complication prevalence and 95% confidence interval (CI) were calculated. JKE-1674 cost We modelled scenarios of low (10%), medium (20%) and high (50%) prevalence estimates against audit sizes of 20, 50, 100, 150, 200, 250, and 300. This was used to develop a decision-making tool to guide audit size.

Of 2274 PIVCs evaluated, 475 (21%) had a complication. Complication prevalence per round varied from 7.8% (95% CI, 4.2-12.9) to 39% (95% CI, 32.0-46.4). Precision improved with larger audit size and lower complication rates. However, precision was not meaningfully improved by auditing >150 patients at a complication rate of 20% (95% CI 13.9%-27.3%), nor >200 patients at a complication rate of 50% (95% CI 42.9%-57.1%).

Audit sizes should be 100 to 250 PIVCs per audit round depending on complication prevalence.

Audit sizes should be 100 to 250 PIVCs per audit round depending on complication prevalence.

In this study, we asked whether differences in striatal activity during a reinforcement learning (RL) task with gain and loss domains could be one of the earliest functional imaging features associated with carrying the Huntington’s disease (HD) gene. Based on previous work, we hypothesized that HD gene carriers would show either neural or behavioral asymmetry between gain and loss learning.

We recruited 35 HD gene carriers, expected to demonstrate onset of motor symptoms in an average of 26 years, and 35 well-matched gene-negative control subjects. Participants were placed in a functional magnetic resonance imaging scanner, where they completed an RL task in which they were required to learn to choose between abstract stimuli with the aim of gaining rewards and avoiding losses. Task behavior was modeled using an RL model, and variables from this model were used to probe functional magnetic resonance imaging data.

In comparison with well-matched control subjects, gene carriers more than 25 years from more predicted motor onset. These represent the earliest functional imaging differences between HD gene carriers and control subjects.This is the first case report of a patient with ALK-rearranged metastatic lung adenocarcinoma who became pregnant during treatment with alectinib. A multidisciplinary team of gynecologists, neonatologists, oncologists, psychologists, and pharmacologists was set up to handle the case. According to patient’s preference, the study drug was continued throughout pregnancy and the woman delivered a healthy baby girl at 35 weeks and 5 days of gestation. Fetal parameters remained normal during pregnancy. At birth, alectinib levels were 14 times higher in maternal plasma than in the fetus (259 versus 18 ng/mL). The average concentration of alectinib in the placenta was 562 ng/g. The baby was followed during her first 20 months, and no developmental anomalies were observed. After 32 months from diagnosis, the mother is well and in partial remission.