Glowniak J V, Shapiro B, Sisson J C, Thompson N W, Coran A G, Lloyd R, Kelsch R C, Beierwaltes W H
Arch Intern Med. 1985 Feb;145(2):257-61.
Pheochromocytomas in the same anatomic site, the right renal hilum, occurred in a family over three successive generations. For two patients in the latter two generations, scintigraphy with iodine 131-tagged metaiodobenzylguanidine (MIBG) showed tumors only in the region of the right renal hilum, thus indicating that they were primary lesions. At surgery, except for lymph node metastases noted microscopically in one patient, tumors were found only near the right renal hilum. The adrenal glands seemed normal on inspection, palpation, and computed tomography. In another family, a mother and son had primary pheochromocytomas arising from the urinary bladder. We suggest that primary extra-adrenal pheochromocytoma is a syndrome in which specific genetic abnormalities determine sites of tumor development.
在一个家族的三代人中，均在相同的解剖部位——右肾门处发生了嗜铬细胞瘤。对于后两代中的两名患者，用碘131标记的间碘苄胍（MIBG）进行闪烁扫描显示，肿瘤仅位于右肾门区域，因此表明它们是原发性病变。手术时，除了在一名患者显微镜下发现有淋巴结转移外，肿瘤仅在右肾门附近发现。经检查、触诊和计算机断层扫描，肾上腺看起来正常。在另一个家族中，一位母亲和儿子患有起源于膀胱的原发性嗜铬细胞瘤。我们认为原发性肾上腺外嗜铬细胞瘤是一种综合征，其中特定的基因异常决定了肿瘤的发生部位。
