The prevalence of pediatric cancers attributable to hereditary cancer predisposition syndromes (CPS) has grown in recent years due to the increasing recognition of links between germline mutations and pediatric cancers. As a result, a rapidly increasing population of patients with CPS are being seen in pediatric radiology practice. In collaboration with oncologists, surgeons, and other specialists, the radiologist plays an essential role in the management of these patients. For example, they may be the first to recognize the constellation of findings leading to the diagnosis of a CPS. In addition, the radiologist who is knowledgeable about pediatric CPS plays a pivotal role in the planning of imaging evaluations, which may need to be concise or comprehensive depending on the clinical situation, with judicious use of ionizing radiation, procedural sedation, and contrast. This is especially important because, although there are consensus screening and surveillance guidelines for the most common CPS, such guidelines have not been established for less common syndromes. This educational exhibit seeks to provide an overview of various CPS, emphasizing 1) genetic underpinnings and mechanisms related to cancer predisposition, 2) the common and uncommon imaging findings, 3) preferred imaging techniques, and 4) currently available screening and surveillance recommendations. Pediatric CPS that will be discussed here include Li-Fraumeni syndrome, neurofibromatosis type I, von Hippel Lindau disease, Beckwith-Wiedemann syndrome, DICER-1 related conditions, Familial adenomatous polyposis, and Gorlin syndrome, as well as neuroendocrine syndromes (e.g., multiple endocrine neoplasia). Less common cancer predisposition syndromes, including DNA-repair related syndromes such as Ataxia-telangectasia, as well as Rubenstein-Taybi syndrome, and PTEN hamartoma tumor syndrome will also be discussed. Read More

Meeting name: SPR 2022 Annual Meeting & Postgraduate Course , 2022

Authors: Patel Arjun, Sarma Asha, Krishnasarma Rekha, Benedetti Daniel, Pruthi Sumit, Snyder Elizabeth

Keywords: cancer predisposition syndrome, hereditary cancer

The majority of children’s hospitals reside in urban settings, and the most common animal related injuries seen in these areas are induced by cats or dogs. However, urban medical centers serve patients from large surrounding rural areas where a more diverse array of animal or agriculture related injuries can occur. Although an altercation with an angry horse, pig, or cow could result in severe trauma in adults, animal related injuries pose an even greater danger to children given their smaller stature and growing bodies. The natural curiosity of children also increases the risk of severe injury when living or playing around industrial agricultural equipment. Even partaking in outdoor sports or leisure activities confers risk for exposure to a variety of injury mechanisms. Depending on the specifics of the surrounding ecosystem, radiologists may also care for patients exposed to envenomation from snakes, scorpions, spiders, and various other insects, resulting in local or systemic complications. When incorporating a mechanism of injury, radiologists may anticipate complications of exposure to these animals or insects and can recommend further imaging evaluation. For example, in addition to characterizing imaging findings, such as local necrosis, from a brown recluse bite injury in a patient transferred from an outlying hospital, the radiologist would anticipate the urgency with which to assess for more systemic complications such as angioedema, rhabdomyolysis, or internal hemorrhage due to disseminated intravascular coagulopathy. To best serve our patients, pediatric radiologists should exhibit familiarity with possible mechanisms of injury related to wildlife, their various imaging manifestations, and potential complications in order to help guide clinicians in managing these potentially devastating injuries. This educational exhibit aims to demonstrate key findings of such pediatric injuries through a series of cases. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Jordan Kathryn, Killerby Marie, Patel Arjun, Cassella Katharyn, Greene Elton, Johnstone Lindsey, Leschied Jessica

Keywords: Pediatric Trauma, Image Findings, Emergency/Acute