Familial Pediatric Endocrine Tumors

Abstract

After completing this course, the reader will be able to:1. Explain the contribution of genetics to heritable aspects of pediatric cancer.2. Describe the applications of presymptomatic gene testing in family members with familial pediatric cancers to the early detection, prevention, and management of tumors in patients and their family members.This article is available for continuing medical education credit at CME.TheOncologist.com. CME CME ABSTRACT

Epidemiology, Clinical Features, and Genetics of Multiple Endocrine Neoplasia Type 2B in a Complete Population

“…MEN 2B may be identified in infancy or early childhood [7] by the presence of mucosal neuromas of the anterior dorsal surface of the tongue, palate, or pharynx. Identification of RET gene mutations in MEN 2B in 1994 allowed the possibility of direct DNA-based mutation testing [3].…”

Much more than anxiety…

“…Surgical excision is the only effective treatment, and the prognosis is excellent if complete resection with free margins is achieved 1 8. Noteworthy is the fact that before any surgical procedure, it is imperative that these patients receive an adequate α-adrenergic and β-adrenergic blockade 1 9…”

Blindness in Tuberous Sclerosis: A Case Report

“…Retinal and nonretinal findings have been documented in TSC 4,5 . The nonretinal finding include eyelid angiofibromas, strabismus, cataracts, colobomas, and iris depigmentation 8 . Tuberous sclerosis is inherited as an autosomal dominant inheritance with a variable penetrance.…”