罕见且不常见的内分泌癌综合征，与基因突变有关。
Rare and unusual endocrine cancer syndromes with mutated genes.
机构信息
Section on Endocrinology Genetics, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development, and Pediatric Endocrinology Inter-Institute Training Program, National Institutes of Health, Bethesda, MD, USA.
出版信息
Semin Oncol. 2010 Dec;37(6):680-90. doi: 10.1053/j.seminoncol.2010.10.019.
The study of a number of rare familial syndromes associated with endocrine tumor development has led to the identification of genes involved in the development of these tumors. Major advances have expanded our understanding of the pathophysiology of these rare endocrine tumors, resulting in the elucidation of causative genes in rare familial diseases and a better understanding of the signaling pathways implicated in endocrine cancers. Recognition of the familial syndrome associated with a particular patient's endocrine tumor has important implications in terms of prognosis, screening of family members, and screening for associated conditions.
对一些与内分泌肿瘤发生相关的罕见家族综合征的研究，导致了参与这些肿瘤发生的基因的鉴定。重大进展扩展了我们对这些罕见内分泌肿瘤的病理生理学的认识，导致了罕见家族疾病中的致病基因的阐明，并更好地理解了涉及内分泌癌的信号通路。对与特定患者的内分泌肿瘤相关的家族综合征的认识，对预后、家族成员的筛查以及相关疾病的筛查具有重要意义。
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