Spectrum of Syndromic Disorders Associated with Pediatric Tumors: Evolving Role of Practical Imaging Assessment

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Key points

  • Multi-organ system abnormalities in pediatric patients should alert to syndromic associations and trigger genetic counseling.

  • Despite chromosomal localization and gene identification, phenotypic manifestations of these syndromes are highly variable.

  • Early and accurate diagnosis of the syndrome allows better appropriation of care and prompt life-saving surveillance. A multidisciplinary team approach is essential.

  • Radiologic imaging plays a pivotal role in surveillance, diagnosis, and treatment in

Ultrasound

Ultrasound (US) is the primary initial modality for abdominal imaging in children. It provides multi-planar imaging and has 3-dimensional (3D) capabilities.1 As smaller pediatric patients with minimal visceral fat, children are well suited to US imaging and can usually be imaged with high-frequency transducers (>7 MHz), which provide excellent resolution. US is also well tolerated in children without sedation or anesthesia; real-time imaging provides ample opportunity to optimize a study with

Background, genetics, and clinical features

Beckwith-Wiedemann syndrome (BWS), also referred to as congenital overgrowth syndrome, has an incidence of about 1 in 13,700.12 Approximately 85% of the cases of BWS occur sporadically, whereas the remaining 15% are attributed to familial, dominant inheritance due to alterations in 11p.13 Five known formative epigenetic and genetic changes at 11p are linked to the syndromic manifestations. As examples, these include overactive expression of insulinlike growth factor 2 (IGF-2), defective copy of

Summary

Although it is not possible to discuss all pediatric abnormalities with tumor associations, recognizing that cancers in children may be syndromic in higher incidences than in the adult population, especially when associated with multiple tumors or other benign pathologies (such as hamartomatous lesions), may provide a unique opportunity for the astute radiologist to potentially alter the life and course of a patient’s treatment. Early diagnosis, detection, and screening under the care of a

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