Renal tumors in the Birt-Hogg-Dube syndrome
Renal tumors in the Birt-Hogg-Dube syndrome
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DOI：
10.1097/00000478-200212000-00002
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发表时间：
2002-12-01
影响因子：
5.6
通讯作者：
Merino, MJ
中科院分区：
文献类型：
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作者：
Pavlovich, CP;Walther, MA;Merino, MJ
Birt-Hogg-Dube（BHD）综合征是一种常染色体显性遗传性皮肤病，以面部、颈部和上躯干（纤维毛囊瘤）出现小圆顶状丘疹为特征。除了这些良性毛囊肿瘤，BHD还增加了肾肿瘤和自发性气胸的风险。到目前为止，还没有系统的病理分析与此综合征的肾肿瘤。我们回顾了来自19个不同家族的30例BHD患者的130例实体性肾肿瘤。术前计算机断层扫描显示每例患者平均有5.3个肿瘤（范围1-28个肿瘤），最大肿瘤平均直径为5.7 cm（+/-3.4 cm，范围1.2-15 cm）。在早期（平均50.7岁）发现多发性和双侧肿瘤。切除的肿瘤主要包括嫌色性肾细胞癌（44/130，34%）或混合嗜酸细胞肿瘤，其区域令人想起嫌色性肾细胞癌和嗜酸细胞瘤（65/130，50%）。12个透明细胞（传统）肾癌（12 130，9%）被诊断为9例患者。这些肿瘤平均（4.7 +/- 4.2 cm）大于嫌色细胞（3.0 +/- 2.5 cm）和杂交肿瘤（2.2 +/- 2.4 cm）。在大多数患者的肾实质中发现了显微镜下的嗜酸性细胞增多，包括5例有肾透明细胞癌证据的患者的肾实质。我们的研究结果表明，显微镜下的嗜酸细胞病变可能是混合嗜酸细胞肿瘤，嫌色细胞肾细胞癌，并可能在BHD综合征患者的透明细胞肾细胞癌的前体。病理学家对与BHD相关的不寻常肾肿瘤的认识可能有助于该综合征的临床诊断。
Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant, genodermatosis characterized by the development of small dome-shaped papules on the face, neck, and upper trunk (fibrofolliculomas). In addition to these benign hair follicle tumors, BHD confers an increased risk of renal neoplasia and spontaneous pneumothorax. To date, there has been no systematic pathologic analysis of the renal tumors associated with this syndrome. We reviewed 130 solid renal tumors resected from 30 patients with BHD in 19 different families. Preoperative computed tomography scans demonstrated a mean of 5.3 tumors per patient (range 1-28 tumors), the largest tumors avera -ing 5.7 cm in diameter ( +/-3.4 cm, range 1.2-15 cm). Multiple and bilateral tumors were noted at an early age (mean 50.7 years). The resected tumors consisted predominantly of chromophobe renal cell carcinomas (44 of 130, 34%) or of hybrid oncocytic neoplasms that had areas reminiscent of chromophobe renal cell carcinoma and oncocytoma (65 of 130, 50%). Twelve clear cell (conventional) renal carcinomas (12 of 130, 9%) were diagnosed in nine patients. These tumors were on average larger (4.7 +/- 4.2 cm) than the chromophobe (3.0 +/- 2.5 cm) and hybrid tumors (2.2 +/- 2.4 cm). Microscopic oncocytosis was found in the renal parenchyma of most patients, including the parenchyma of five patients with evidence of clear cell renal cell carcinoma. Our findings suggest that microscopic oncocytic lesions may be precursors of hybrid oncocytic tumors, chromophobe renal cell carcinomas, and perhaps clear cell renal cell carcinomas in patients with BHD syndrome. Recognition by the pathologist of the unusual renal tumors associated with BHD may assist in the clinical diagnosis of the syndrome.