The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome
The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome
复制标题
DOI：
10.1097/pas.0b013e31804375b8
复制
发表时间：
2007-10-01
影响因子：
5.6
通讯作者：
Linehan, William Marston
中科院分区：
文献类型：
--
作者：
Merino, Maria J.;Torres-Cabala, Carlos;Linehan, William Marston
遗传性平滑肌瘤病和肾细胞癌（HLRCC）是一种常染色体显性遗传的家族综合征，其特征是皮肤和子宫平滑肌瘤以及肾脏肿瘤的发展。已在富马酸水合酶（FH，1q42.3-q43）基因中鉴定出该病症的突变。肾癌的组织学尚未得到很好的描述或说明，因为新的综合征。我们回顾了40例肾肿瘤切除的38例患者属于HLRCC家庭证明富马酸水合酶种系突变。患者年龄范围为17 - 75岁。除2例外，其余均为单侧肿瘤。肿瘤的大小在2.3和20厘米之间变化，没有偏侧偏好。乳头状25例，管状乳头状8例，管状2例，实性1例。混合型4例。这些肿瘤最重要的组织学特征，我们认为是HLRCC肿瘤的标志，是存在一个特征性的大核，具有非常突出的包含物，如嗜橙色或嗜酸性核仁，周围有一个清晰的晕。免疫组化研究未能提供特异性标记物，但1 q32和1 q42 -44杂合性缺失较多，预后差，易转移至局部淋巴结。目前，形态学是识别这些肿瘤的最佳工具。病理学家对这种综合征的正确诊断可能有助于这些肿瘤的早期发现。
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant familial syndrome characterized by the development of cutaneous and uterine leiomyomas as well as renal tumors. The mutation of this condition has been identified in the fumarate hydratase (FH, 1q42.3-q43) gene. The histology of the renal cancers has not been well described or illustrated because of the newness of the syndrome. We reviewed 40 renal tumors resected from 38 patients belonging to HLRCC families with proven fumarate hydratase germline mutation. Patients ranged in age from 17 to 75 years of age. Tumors were unilateral in all but 2 cases. The size of the tumors varied between 2.3 and 20 cm and there was no laterality preference. Several different architectural patterns were recognized: papillary (25 cases), tubulo-papillary (8 cases), tubular (2 cases), and solid (I case). Mixed patterns were also present in 4 cases. The most important histologic feature of these neoplasms, which we believe to be the hallmark of the HLRCC tumors, is the presence of a characteristic large nucleus with a very prominent inclusion like orangiophilic or eosinophilic nucleolus, surrounded by a clear halo. Immunohistochemical studies did not provide a specific marker for these tumors, however, loss of heterozygosity at 1q32 and 1q42-44 was frequently found. These tumors are associated with poor prognosis and frequent spread to regional lymph nodes. At the moment, morphology is the best tool to recognize these tumors. Proper diagnosis of this syndrome by the pathologist may assist in early detection of these tumors.