From the Department of Pathology, University of Michigan Medical School, Ann Arbor (Drs Skala and Mehra); the Rogel Cancer Center, Michigan Medicine, Ann Arbor (Dr Mehra); and the Department of Pathology, Michigan Center for Translational Pathology, University of Michigan Health System, Ann Arbor (Drs Dhanasekaran and Mehra).
Arch Pathol Lab Med. 2018 Oct;142(10):1202-1215. doi: 10.5858/arpa.2018-0216-RA.
CONTEXT.—: Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is an uncommon disorder with germline-inactivating mutations in the fumarate hydratase ( FH) gene. The kidney cancers that develop in patients with HLRCC are often unilateral and solitary, with a potentially aggressive clinical course; morphologic identification of suspicious cases is of the utmost importance.
OBJECTIVE.—: To review classic morphologic features of HLRCC-associated renal cell carcinoma, the reported morphologic spectrum of these tumors and their mimics, and the evidence for use of immunohistochemistry and molecular testing in diagnosis of these tumors.
DATA SOURCES.—: University of Michigan cases and review of pertinent literature about HLRCC and the morphologic spectrum of HLRCC-associated renal cell carcinoma.
CONCLUSIONS.—: Histologic features, such as prominent nucleoli with perinucleolar halos and multiple architectural patterns within one tumor, are suggestive of HLRCC-associated renal cell carcinoma. However, the morphologic spectrum is broad. Appropriate use of FH immunohistochemistry and referral to genetic counseling is important for detection of this syndrome.
遗传性平滑肌瘤病和肾细胞癌综合征（HLRCC）是一种罕见疾病，其特征为成纤维细胞生长因子（FH）基因突变。HLRCC 患者发生的肾癌通常为单侧和单发，具有潜在侵袭性的临床病程；因此，对可疑病例的形态学识别至关重要。
回顾 HLRCC 相关肾细胞癌的经典形态学特征、这些肿瘤的报告形态学谱及其模拟物，以及免疫组织化学和分子检测在这些肿瘤诊断中的应用证据。
密歇根大学的病例和关于 HLRCC 及 HLRCC 相关肾细胞癌形态学谱的相关文献复习。
核仁明显伴核仁周晕、肿瘤内存在多种结构模式等组织学特征提示 HLRCC 相关肾细胞癌。然而，其形态学谱广泛。适当应用 FH 免疫组织化学和遗传咨询对该综合征的检测很重要。
