ABSTRACT
Renal cell carcinoma (RCC) uncommonly metastasizes to the ureter and rarely to the contralateral ureter. We describe the presentation of 2 successive contralateral ureteric metastases from RCC in our institution. The first represents the only reported metachronous ureteric deposit on adjuvant sorafenib after laparoscopic radical nephrectomy for RCC. The other presented with a synchronous lesion after radiological work-up. Both lesions were treated with endoscopic excision and laser ablation with preservation of the renal unit and no local recurrence. We report these cases and discuss the literature.
ABSTRACT
Hereditary motor and sensory neuropathy type IIC (HMSN IIC) is an autosomal dominant axonal neuropathy. The cardinal features include distal muscle wasting and weakness, vocal cord paralysis, and mild sensory impairment. Recently, HMSN IIC locus was mapped to chromosome 12q23-24. Two families affected by HMSN IIC were identified and evaluated for linkage to this region. Segregation analysis in both families was consistent with linkage to chromosome 12q23-24. Combined analysis generated a multipoint LOD score of 2.1 at marker D12S1583 and refined the HMSN IIC gene interval to The clinical and molecular findings are discussed.