Imaging findings of children with PTEN-related hamartoma tumor syndrome: a 20-year multicentric pediatric cohort.

BACKGROUND: PTEN-related hamartoma tumor syndrome results from a mutation in the PTEN gene located at 10q23.31. This syndrome represents a spectrum of different phenotypes of variable expressions, now recognized as part of the same condition. Patients with this mutation have an increased risk of developing a wide range of findings, including malignancies. Although widely described in adults, there are no large series describing the imaging findings in patients before adulthood. Knowledge of the findings seen in children and adolescents with PTEN-related hamartoma tumor syndrome can help guide further management and improve surveillance recommendations. OBJECTIVE: To describe the spectrum of imaging abnormalities in pediatric patients with PTEN-related hamartoma tumor syndrome. MATERIALS AND METHODS: We performed a retrospective, cross-sectional, multicenter study conducted between January 2000 and October 2021 in three tertiary pediatric institutions evaluating the imaging findings in children and adolescents (≤ 18 years) with confirmed diagnoses of a PTEN mutation. For each patient, the imaging findings, histopathology reports, and at least a 2-year follow-up of clinical outcomes for non-operative cases were documented. RESULTS: The cohort included 78 children (37 girls), with a mean age at diagnosis of 7.5 years (range 0 days to 18 years). Benign brain findings included enlarged Virchow-Robin perivascular spaces, white matter changes, developmental venous anomalies, and cerebellar hamartomas. Benign thyroid findings were common, but 5/45 (11.1%) with thyroid abnormalities had a malignant nodule. Soft tissue adipocytic tumors, GI/GU polyps, other soft tissue abnormalities, along with vascular anomalies in various anatomic locations were common. CONCLUSION: Brain abnormalities, benign non-vascular soft tissue abnormalities, and vascular anomalies are commonly seen in children and adolescents with PTEN-related hamartoma tumor syndrome. However, malignancies involving the thyroid gland are not uncommon. Familiarity with the phenotype of PTEN-related hamartoma tumor syndrome in the pediatric population can improve diagnosis and prompt appropriate clinical surveillance of abnormal findings that warrant further management.

How we do it: Cardiac implantable devices are not a contraindication to MRI: time for a paradigm shift.

Magnetic resonance imaging (MRI) is now an indispensable diagnostic tool in medicine due to its outstanding contrast resolution and absence of radiation exposure, enabling detailed tissue characterization and three-dimensional anatomical representation. This is especially important when evaluating individuals with congenital heart disease (CHD) who frequently require cardiac implantable electrical devices (CIEDs). While MRI safety issues have previously limited its use in patients with CIEDs, new advances have called these limitations into question. However, difficulties persist in the pediatric population due to the continued lack of specific safety data both related to imaging young children and the specific CIED devices they often require. This paper discusses MRI safety considerations related to imaging patients with CIEDs, investigates pediatric-specific problems, and describes thorough methods for safe MRI access, highlighting the significance of specialized institutional guidelines.

Case competition sessions: a global education and academic engagement tool.

BACKGROUND: Radiology virtual teaching sessions utilize live video conferencing to promote collaborative learning and engagement by discussing radiology cases. Because of its convenience and flexibility, this mode of education has gained popularity, particularly after the corona virus disease 2019 pandemic. OBJECTIVE: We describe our experience in organizing a series of "Global Health Imaging Case Competitions" for trainees in low- and middle-income countries (LMICs). These competitions provide the trainees with an opportunity to present unique radiology cases, network with radiologists, learn about various radiology topics, win prizes and potentially publish their case reports in a peer-reviewed journal. MATERIALS AND METHODS: Planning and execution of the competition involves several steps. First, trainees are invited to participate and submit abstracts discussing unique cases. The organizing committee grades these abstracts; the authors of the 20 abstracts with the highest scores are asked to submit a video presentation of their cases to be presented during the live webinar. During this webinar, presentations are displayed and graded to select winners. Additionally, the audience votes to choose a participant as the people's favorite. We have completed four cycles (Africa, Latin America and the Caribbean, Africa and the Middle East and Asia) and will continue in the same order of rotation. RESULTS: Attendance totalled 2,510 participants from 50 countries. Pediatric cases represented the majority of cases among finalists. Feedback was positive; 26 out of 29  (90%) participants surveyed indicated that the webinar was "very good" to "excellent" with well-organized and challenging cases. Diversity of participating countries was noted. Limitations included technology barriers such as internet connectivity. CONCLUSION: This innovative approach emphasizing audience participation engaged trainees from LMICs and fostered locoregional collegiality and mentoring.

Learning from experience - Radiology ancillary review of prospective research studies involving imaging.

This report describes the operational process of a big academic children's hospital's Radiology Scientific Review Committee, with a focus on its role in integrating radiology services into pediatric clinical research. We define the step-by-step workflow used to assess research proposals involving imaging and share insights from the past three years of data collection. Trends in modalities, radiologist involvement, and interpretation possibilities are outlined in the data. This systematic methodology provides essential resource allocation concepts and promotes high-quality pediatric clinical research.

The use of sodium MRI in the diagnosis of an anaplastic astrocytoma during immunotherapy: a case report.

Gliomas in the pediatric population are targeted with immune-modulating therapies. The gold standard imaging modality for diagnosis and monitoring treatment response is magnetic resonance imaging (MRI); however, the complex post-therapy-induced changes can make treatment response assessment difficult. These include radiation necrosis, pseudoresponse, and pseudoprogression, as well as more complex responses in the setting of immunotherapy. We report a case of an 11-year-old male with a supratentorial astrocytoma (WHO grade 3) that underwent treatment with immunotherapy. There was a clinical concern for progression due to increased fluid-attenuated inversion recovery (FLAIR) hyperintensity at the site of the primary neoplasm during immunotherapy. However, the Sodium (23Na) MRI continued demonstrating decreased total sodium concentrations, supporting pseudoprogression over true progression, which was confirmed clinicaly. This case reports the capability of 23Na MRI to differentiate between progression, recurrence, and other posttreatment changes.