LeBlanc Melissa, Tabrizi Mohsen, Kapsner Patricia, Hanson Joshua Anspach
Department of Pathology, University of New Mexico School of Medicine, Albuquerque, NM 87131.
Department of Endocrinology, Diabetes, and Metabolism, University of New Mexico School of Medicine, Albuquerque, NM 87131.
Hum Pathol. 2014 Dec;45(12):2502-6. doi: 10.1016/j.humpath.2014.08.011. Epub 2014 Sep 6.
The most common clinical syndromes presenting with paragangliomas and/or pheochromocytomas as their endocrine components are multiple endocrine neoplasia type 2, neurofibromatosis, Von Hippel-Lindau syndrome, Carney-Stratakis syndrome, Carney triad, and the recently described hereditary paraganglioma syndrome. Only Carney triad is known to also present with adrenocortical adenomas, currently representing the only described syndrome in which all 3 of the aforementioned tumors are found together. In most cases, prototypical lesions of the triad such as gastrointestinal stromal tumor and pulmonary chondromas are also seen. We present a case of a young woman with synchronous paragangliomas, adrenal/extra-adrenal cortical neoplasms, and pheochromocytoma without genetic mutations for multiple endocrine neoplasia 2, Von Hippel-Lindau syndrome, neurofibromatosis, and succinate dehydrogenase. We speculate that this represents a previously undescribed presentation of Carney triad and, at the very least, indicates the need for monitoring for the development of other tumors of the triad.
以副神经节瘤和/或嗜铬细胞瘤作为其内分泌成分出现的最常见临床综合征包括2型多发性内分泌腺瘤病、神经纤维瘤病、冯·希佩尔-林道综合征、卡尼-斯特拉塔基斯综合征、卡尼三联征以及最近描述的遗传性副神经节瘤综合征。已知只有卡尼三联征还会伴有肾上腺皮质腺瘤，目前它是唯一一种被描述的所有上述三种肿瘤同时出现的综合征。在大多数情况下，还可见到三联征的典型病变，如胃肠道间质瘤和肺软骨瘤。我们报告一例年轻女性病例，她同时患有副神经节瘤、肾上腺/肾上腺外皮质肿瘤和嗜铬细胞瘤，且不存在2型多发性内分泌腺瘤病、冯·希佩尔-林道综合征、神经纤维瘤病和琥珀酸脱氢酶的基因突变。我们推测这代表了一种此前未被描述的卡尼三联征表现，至少表明需要监测三联征其他肿瘤的发生情况。
