Endocrine tumor syndromes in infancy and childhood.
Of endocrine disorders that present in the pediatric age range, three heritable tumor syndromes have received a large amount of attention over the past decade, because the relevant genes have been discovered and we have begun to understand the role of some of the proteins involved. In this short review article, the dominantly inherited tumor syndromes multiple endocrine neoplasia type 1 (MEN1), caused by mutations in the menin gene, type 2 (MEN2), caused by mutations in the RET protooncogene, and von Hippel-Lindau disease (VHL), caused by VHL gene abnormalities including mutations, are discussed with an emphasis on the age and mode of presentation of the constituent tumors. Also, current screening and/or treatment guidelines are included.
de Krijger
Ronald R
RR
Department of Pathology, Josephine Nefkens Institute, Erasmus MC-University Medical Center, Rotterdam, The Netherlands. r.dekrijger@erasmusmc.nl
D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics / Q000473:pathology*; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000235:genetics / Q000473:pathology*
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C497446:VHL protein, human