Pathology of pheochromocytoma and paraganglioma
Pathology of pheochromocytoma and paraganglioma
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DOI：
10.1007/978-3-319-77048-2_2
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发表时间：
2015-08
影响因子：
3.9
通讯作者：
A. Tischler;R. Krijger
中科院分区：
文献类型：
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作者：
A. Tischler;R. Krijger
嗜铬细胞瘤和副神经节瘤是起源于自主神经系统相关神经源性细胞的肿瘤。世界卫生组织的内分泌肿瘤分类武断地保留了嗜铬细胞瘤的名称，用于肾上腺髓质嗜铬细胞产生的肿瘤。副神经节瘤是发生在整个交感神经和神经节的分布以及沿着舌咽神经和迷走神经的分支在头部和颈部的类似肿瘤。嗜铬细胞瘤和副神经节瘤可能在形态和功能上相同，也可能在不同的解剖部位表现出功能上的差异。最近的分子和遗传学进展使人们对这些肿瘤的了解大大增加。现在已知多达30%是遗传性的。虽然一些遗传性疾病，包括von Hippel-Lindau综合征（VHL），MEN 2和1型神经纤维瘤病（NF 1），几十年来已经得到了很好的认识，但最近的发现使克雷布斯循环中的酶成为新的焦点，特别是琥珀酸脱氢酶（SDH）。 基因. SDH亚单位编码基因（统称为SDH x基因）的致病性种系突变 目前在遗传性嗜铬细胞瘤和副神经节瘤中所占比例最大。此外，在胃肠道间质瘤、肾细胞癌和垂体腺瘤中也发现了SDH缺陷-总结见表2.1。异柠檬酸脱氢酶也与少数病例有关。现在已经确定了至少19个基因中的生殖系突变，并且其中许多也被报道为在真正的散发性肿瘤中仅发生体细胞突变。鉴于遗传的重要性，嗜铬细胞瘤、副神经节瘤及其综合征相关肿瘤的前瞻性识别和准确的病理诊断现在对患者的护理至关重要。
Pheochromocytomas and paragangliomas are tumors that arise from related neurally-derived cells of the autonomic nervous system. The World Health Organization classification of endocrine tumors arbitrarily reserves the name pheochromocytoma for tumors that arise from the chromaffin cells of the adrenal medulla. Paragangliomas are similar tumors that occur throughout the distribution of sympathetic nerves and ganglia and along branches of the glossopharyngeal and vagus nerves in the head and neck. Pheochromocytomas and paragangliomas may be morphologically and functionally identical or may show functional differences associated with different anatomic sites. Recent molecular and genetic advances have led to greatly increased understanding of these tumors. It is now known that as many as 30% are hereditary. While some of the hereditary disorders , including von Hippel-Lindau syndrome (VHL), MEN2, and neurofibromatosis type 1 (NF1), have been well recognized for decades, recent discoveries have put a new focus on enzymes within the Krebs cycle , especially thesuccinate dehydrogenase(SDH) genes. Pathogenic germline mutations in the genes encoding subunits of SDH, collectively known asSDHxgenes , now account for the largest share of hereditary pheochromocytoma and paraganglioma. Moreover, SDH deficiencies have also been identified in gastrointestinal stromal tumor, renal cell carcinoma, and pituitary adenoma – summarized in Table 2.1. Isocitrate dehydrogenase has also been implicated in a small number of cases. Germline mutations in at least 19 genes have now been identified, and many of these have also been reported to occur as somatic-only mutations in genuinely sporadic tumors. Given the newly recognized importance of heredity, prospective recognition, and accurate pathological diagnosis of pheochromocytoma, paraganglioma, and their syndromically associated tumors is now essential for patient care.