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

Final Pr. ID: Poster #: EDU-057

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

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

Keywords:  cancer predisposition syndrome, hereditary cancer

Alsarhani Haifa,  Somerville Scott,  Ahmet Alexandra,  Sawyer Sarah,  Tomiak Eva,  Martinez-rios Claudia

Final Pr. ID: Paper #: 145

Cancer predisposition syndromes (CPS) are rare genetic disorders with increased risk of benign and malignant neoplasms. A few of these syndromes predispose to thyroid gland pathology, including thyroid carcinoma. The purpose of this study is to review the spectrum of diagnostic outcomes of thyroid abnormalities in pediatric patients diagnosed with a CPS at a tertiary care pediatric hospital. Read More

Authors:  Alsarhani Haifa , Somerville Scott , Ahmet Alexandra , Sawyer Sarah , Tomiak Eva , Martinez-rios Claudia

Keywords:  Cancer predisposition syndromes, Neck