A survey of non-sedate practices when acquiring pediatric magnetic resonance imaging examinations.

BACKGROUND: Improving access to magnetic resonance imaging (MRI) in childhood can be facilitated by making it faster and cheaper and reducing need for sedation or general anesthesia (GA) to mitigate motion. Some children achieve diagnostic quality MRI without GA through the use of non- practices fostering their cooperation and/or alleviating anxiety. Employed before and during MRI, these variably educate, distract, and/or desensitize patients to this environment. OBJECTIVE: To assess current utilization of non-sedate practices in pediatric MRI, including variations in practice and outcomes. MATERIALS AND METHODS: A survey-based study was conducted with 1372 surveys emailed to the Society for Pediatric Radiology members in February 2021, inviting one response per institution. RESULTS: Responses from 50 unique institutions in nine countries revealed 49/50 (98%) sites used ≥ 1 non-sedate practice, 48/50 (96%) sites in infants < 6 months, and 11/50 (22%) for children aged 6 months to 3 years. Non-sedate practices per site averaged 4.5 (range 0-10), feed and swaddle used at 47/49 (96%) sites, and child life specialists at 35/49 (71%). Average success rates were moderate (> 50-75%) across all sites and high (> 75-100%) for 20% of sites, varying with specific techniques. Commonest barriers to use were scheduling conflicts and limited knowledge. CONCLUSION: Non-sedate practice utilization in pediatric MRI was near-universal but widely variable across sites, ages, and locales, with room for broader adoption. Although on average non-sedate practice success rates were similar, the range in use and outcomes suggest a need for standardized implementation guidelines, including patient selection and outcome metrics, to optimize utilization and inform educational initiatives.

Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.

Rhabdoid tumor predisposition syndrome type-1 (RTPS1) is characterized by germline pathogenic variants in SMARCB1 and development of INI1-deficient rhabdoid tumors in early childhood. Due to its poor prognosis, the risk of subsequent tumor development and the impact of surveillance at later ages are poorly understood. We retrospectively reviewed individuals referred to the Cancer Genetics Program at The Hospital for Sick Children for SMARCB1 genetic testing and/or surveillance for RTPS1. In addition, to explore characteristics of late-onset tumors in RTPS1, a literature review was conducted. Of eighty-three individuals (55 probands and 28 family members), 12 probands and 4 family members were genetically confirmed with RTPS1. Four pediatric probands with RTPS1 underwent surveillance. An additional three individuals, including one patient with 22q11.2 distal deletion without history of tumor, one patient with negative genetic testing results but clinically diagnosed with RTPS1, and one sibling identified through cascade testing, underwent surveillance. Three patients with RTPS1 developed tumors between the ages of 9 and 17, including malignant rhabdoid tumors (N = 3), schwannomas (N = 4), and epithelioid malignant peripheral nerve sheath tumor (N = 1). Three of these lesions were asymptomatically detected by surveillance. A literature review revealed 17 individuals with RTPS1 who developed INI1-deficient tumors after age five. Individuals with RTPS1 remain at elevated risk for developing INI1-deficient tumors after the peak age of rhabdoid tumor in early childhood. Extension of surveillance beyond 5 years of age could lead to improved survival and reduced morbidity for these patients, and prospective evaluation of revised approaches will be important.

Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.

Tumors of the central nervous system (CNS) comprise the second most common group of neoplasms in childhood. The incidence of germline predisposition among children with brain tumors continues to grow as our knowledge on disease etiology increases. Some children with brain tumors may present with nonmalignant phenotypic features of specific syndromes (e.g., nevoid basal cell carcinoma syndrome, neurofibromatosis type 1 and type 2, DICER1 syndrome, and constitutional mismatch-repair deficiency), while others may present with a strong family history of cancer (e.g., Li-Fraumeni syndrome) or with a rare tumor commonly found in the context of germline predisposition (e.g., rhabdoid tumor predisposition syndrome). Approximately 50% of patients with a brain tumor may be the first in a family identified to have a predisposition. The past decade has witnessed a rapid expansion in our molecular understanding of CNS tumors. A significant proportion of CNS tumors are now well characterized and known to harbor specific genetic changes that can be found in the germline. Additional novel predisposition syndromes are also being described. Identification of these germline syndromes in individual patients has not only enabled cascade testing of family members and early tumor surveillance but also increasingly affected cancer management in those patients. Therefore, the AACR Cancer Predisposition Working Group chose to highlight these advances in CNS tumor predisposition and summarize and/or generate surveillance recommendations for established and more recently emerging pediatric brain tumor predisposition syndromes.