Department of Diagnostic Pathology, Kochi Red Cross Hospital, Kochi, Japan.
Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ann Diagn Pathol. 2014 Jun;18(3):171-6. doi: 10.1016/j.anndiagpath.2014.03.002. Epub 2014 Mar 29.
In this article, we searched for the common histologic characteristic of renal tumors in patients with Birt-Hogg-Dubé syndrome (BHDS). We selected 6 patients with histologically confirmed renal tumor in BHDS. Germline FLCN gene mutation has been identified in 5 patients. Multifocality and bilaterality of the renal tumors were pathologically or radiologically confirmed in 5 and 2 cases, respectively. Histologic subtypes of the dominant tumor included 3 previously described hybrid oncocytic tumors, one composite chromophobe/papillary/clear cell renal cell carcinoma (RCC) and one unclassified RCC resembling hybrid chromophobe/clear cell RCC. In one case, chromophobe RCC and clear cell RCC were separately observed. Small papillary lesions located in the peripheral area of the tumor, which we designated as intratumoral peripheral small papillary tufts, were identified in all patients. In conclusion, multifocality/bilaterality of renal tumors, discordance of histologic subtypes, and the presence of intratumoral peripheral small papillary tufts may be important clues to identify BHDS-associated renal tumors.
在本文中，我们探寻了伴有 Birt-Hogg-Dubé 综合征（BHDS）的肾肿瘤的常见组织学特征。我们选择了 6 名经组织学证实患有 BHDS 肾肿瘤的患者。其中 5 名患者的胚系 FLCN 基因突变已被确定。5 名患者的肾肿瘤在病理或影像学上证实为多灶性和双侧性，2 名患者分别证实为多灶性和单侧性。优势肿瘤的组织学亚型包括 3 种先前描述的混合性嗜酸细胞瘤、1 种复合性嫌色细胞/乳头/透明细胞肾细胞癌（RCC）和 1 种未分类的 RCC，类似于混合性嫌色细胞/透明细胞 RCC。在 1 例中，分别观察到嫌色细胞 RCC 和透明细胞 RCC。所有患者均在肿瘤的外周区域发现了小的乳头状病变，我们将其命名为肿瘤内外周小乳头状簇。总之，肾肿瘤的多灶性/双侧性、组织学亚型的不一致性以及肿瘤内外周小乳头状簇的存在可能是识别 BHDS 相关肾肿瘤的重要线索。
