%0 Journal Article
%T Pediatric Ethics Guidelines for Hereditary Medullary Thyroid Cancer
%A M Rosenthal
%A Douglas S Diekema
%J International Journal of Pediatric Endocrinology
%D 2011
%I BioMed Central
%R 10.1155/2011/847603
%X Medullary thyroid cancer (MTC) is an uncommon type of aggressive thyroid cancer that does not respond to systemic radioactive iodine, an effective treatment for most other types of thyroid cancer. This cancer's aggressive biological behavior also diminishes the effectiveness of surgical therapy, and there is currently no standard effective chemotherapy for this cancer.The etiology of MTC is well documented in the literature; it may occur sporadically or present as part of an autosomal dominant inherited disorder. If inherited, MTC is 100% penetrant [1], although the age of onset is variable [1¨C5]. In 1993, germline mutations in the RET proto-oncogene were found to be responsible for hereditary MTC [3], allowing genetic testing to be used as the primary tool for detecting its presence in at-risk family members. We use the term hereditary medullary thyroid cancer to discuss both familial medullary thyroid cancer (FMTC) and medullary thyroid cancer arising from MEN 2 syndromes (MEN 2A and MEN 2B). In the general population, MTC accounts for 5%¨C8% percent of all thyroid cancers [6¨C8] and about 15% of all thyroid cancer-related deaths [6]. However, the published statistics on this type of cancer are based on narrow studies and a small literature; the true incidence and prevalence of MTC is likely much higher than what has been reported. According to 2009 SEER data available from the National Cancer Institute, we estimate the national incidence rate of MTC to be approximately 3000 new index cases per year, with a national prevalence of roughly 35,000. Since MTC can be either inherited (familial or hereditary) or not inherited (sporadic), it is also standard of care to offer all index patients genetic testing to rule out the genetic mutation for the inherited form. If an index patient decides not to get tested, he or she may unknowingly represent a large kindred comprising dozens, or hundreds, of at-risk individuals who may eventually die from this cancer because the oppor
%U http://www.ijpeonline.com/content/2011/1/847603