Mercken Karel, Van Berkel Brecht, De Wever Liesbeth
Department Radiology, UZ Leuven, campus Gasthuisberg, Leuven, Belgium Herestraat Leuven, Belgium.
J Belg Soc Radiol. 2024 Sep 11;108(1):79. doi: 10.5334/jbsr.3687. eCollection 2024.
In hereditary leiomyomatosis and renal cell carcinoma syndrome, fumarate hydratase-deficient renal cell carcinomas typically present as aggressive, unilateral, often cystic masses with heterogeneous enhancement. These tumors can metastasize early, making appropriate imaging and staging critical for diagnosis and management. When a renal lesion suspected of RCC is identified in a patient with cutaneous and uterine leiomyomas, HLRCC should be evaluated, which is important for future genetic counseling.
在遗传性平滑肌瘤病和肾细胞癌综合征中，富马酸水合酶缺乏型肾细胞癌通常表现为侵袭性、单侧性、常为囊性的肿块，增强不均匀。这些肿瘤可早期转移，因此合适的影像学检查和分期对诊断和治疗至关重要。当在患有皮肤和子宫平滑肌瘤的患者中发现疑似肾细胞癌的肾脏病变时，应评估遗传性平滑肌瘤病和肾细胞癌综合征，这对未来的遗传咨询很重要。
