Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892-1107, USA.
J Urol. 2013 Feb;189(2):430-5. doi: 10.1016/j.juro.2012.07.139. Epub 2012 Sep 19.
The condition hereditary leiomyomatosis and renal cell carcinoma is characterized by cutaneous leiomyomas, uterine fibroids and aggressive papillary renal cell carcinoma. A number of our patients with hereditary leiomyomatosis and renal cell carcinoma had atypical adrenal nodules, which were further evaluated to determine whether these nodules were associated with hereditary leiomyomatosis and renal cell carcinoma.
Patients with hereditary leiomyomatosis and renal cell carcinoma underwent a comprehensive clinical and genetic evaluation. We reviewed the clinical presentation, anatomical and functional imaging, endocrine evaluation, pathological examination and germline mutation testing results.
Of 255 patients with hereditary leiomyomatosis and renal cell carcinoma 20 (7.8%) had primary adrenal lesions, including 4 with bilateral adrenal lesions and 4 with multiple nodules. Two patients had adrenocorticotropic hormone independent hypercortisolism. A total of 27 adrenal lesions were evaluated. The imaging characteristics of 5 of these lesions (18.5%) were not consistent with adenoma by noncontrast computerized tomography criteria. Positron emission tomography was positive in 7 of 10 cases (70%). A total of 12 nodules were surgically resected from 10 adrenal glands. Pathological examination revealed macronodular adrenal hyperplasia in all specimens.
Unilateral and bilateral adrenal nodular hyperplasia was detected in a subset of patients with hereditary leiomyomatosis and renal cell carcinoma. A functional endocrine evaluation is recommended when an adrenal lesion is discovered. Imaging frequently reveals lesions that are not typical of adenomas and positron emission tomography may be positive. To date no patient has had adrenal malignancy, and active surveillance of hereditary leiomyomatosis and renal cell carcinoma adrenal nodules appears justified.
遗传性平滑肌瘤病和肾细胞癌的特征是皮肤平滑肌瘤、子宫纤维瘤和侵袭性乳头状肾细胞癌。我们的一些遗传性平滑肌瘤病和肾细胞癌患者有不典型的肾上腺结节，进一步评估这些结节是否与遗传性平滑肌瘤病和肾细胞癌有关。
遗传性平滑肌瘤病和肾细胞癌患者进行了全面的临床和遗传评估。我们回顾了临床表现、解剖和功能成像、内分泌评估、病理检查和种系突变检测结果。
在 255 例遗传性平滑肌瘤病和肾细胞癌患者中，有 20 例（7.8%）有原发性肾上腺病变，包括 4 例双侧肾上腺病变和 4 例多发性结节。2 例患者有促肾上腺皮质激素非依赖性皮质醇增多症。共评估了 27 个肾上腺病变。其中 5 个病变（18.5%）的非增强计算机断层扫描标准不符合腺瘤的影像学特征。10 例中有 7 例（70%）正电子发射断层扫描阳性。从 10 个肾上腺中总共切除了 12 个结节。病理检查显示所有标本均为巨结节性肾上腺增生。
在一部分遗传性平滑肌瘤病和肾细胞癌患者中发现单侧和双侧肾上腺结节性增生。当发现肾上腺病变时，建议进行功能内分泌评估。影像学常显示不典型的腺瘤病变，正电子发射断层扫描可能呈阳性。迄今为止，没有患者发生肾上腺恶性肿瘤，对遗传性平滑肌瘤病和肾细胞癌肾上腺结节进行主动监测似乎是合理的。
