[2] Viral M. Patel, Marc Z. Handler, Robert A. et al.Clark Lambert. Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review[J]. Journal of the American Academy of Dermatology,2017,77(1) [3] Benjamin...
最新确定的肾上皮性肿瘤包括遗传性平滑肌瘤病和肾细胞癌综合征相关性肾细胞癌(hereditary leiomyomatosis and renal cell carcinoma syndrome-associated RCC,HLRCC-... Holger Moch,Antinio L. Cubilla,Peter A. Humphrey,... - 《影像诊断与介入放射学》 被引量: 219发表: 2018年 MR波谱检测遗传性平滑肌瘤病和...
论文--毕业论文 系统标签: 平滑肌综合征发性皮肤leiomyomasyndrome 目录中文摘要···1英文摘要···2英文缩写···
Methods The MRI and CT imaging characteristics of 39 pathologically confirmed lesions from 30 patients (20 male, 10 female) with HLRCC syndrome were evaluated by two radiologists. Patients had an average age at diagnosis of 43.8 卤 13.1 years. Lesion characteristics including laterality, homogeneity,...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants in the fumarate hydratase (FH) gene. It is characterized by cutaneous and uterine leiomyomas and an increased risk of developing renal cell carcinoma (RCC). HLRC...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome caused by heterozygous germline mutations in the fumarate hydratase ( FH ) gene. Cutaneous and uterine leiomyomas are the most common clinical manifestations of HLRCC, whereas only approximately 20% of the familie...
distinct epithelial tumors within the classification system: tubulocystic renal cell carcinoma (RCC), acquired cystic disease-associated RCC, clear cell (tubulo) papillary RCC, the MiT family translocation RCCs (in particular t(6;11) RCC), and hereditary leiomyomatosis RCC syndrome-associated...
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 9, 20 (2008). https://doi.org/10.1186/1471-2350-9-20 Download citation Received11 December 2007 Accepted25 March 2008 ...
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome–associated Renal Cancer: Recognition of the Syndrome by Pathologic Features and the Utility of... dominant disorder in which germline mutations of fumarate hydratase (FH) gene confer an increased risk of cutaneous and uterine leiomyomas and ren...
HLRCC is an autosomal dominant syndrome caused by loss of function mutations in the fumarate hydratase gene. Sufferers of this disorder are predisposed to the development of tumours of the skin and/or uterus, with a further subset of HLRCC families at risk of renal cell carcinoma with papillary...