Geiser C F, Efron M L
Cancer. 1968 Oct;22(4):856-60. doi: 10.1002/1097-0142(196810)22:4<856::aid-cncr2820220424>3.0.co;2-1.
Cystathionine is not normally present in urine and only a few cases of congenital cystathioninuria are known. Cystathioninuria has also been found in patients with sympathetic tumors or with primary hepatic tumors. This study was undertaken in order to assess the significance of cystathioninuria in the diagnosis and follow-up of patients with active neuroblastoma or ganglioneuroblastoma. It was found that 50% of these patients excrete cystathionine. The presence or severity of cystathioninuria does not correlate with the extent of metastases, nor is it combined with an elevated vanilmandelic acid excretion. By contrast, patients successfully treated for neuroblastoma, as well as patients with a variety of other tumors or diseases, do not show cystathioninuria. It is concluded that cystathioninuria is a valid test in the diagnosis of neuroblastoma or ganglioneuroblastoma, although primary liver tumors should be considered in the differential diagnosis. Furthermore, the presence of cystathioninuria in the follow-up course of these patients indicates that the neoplastic disease is still active.
胱硫醚通常不存在于尿液中，已知的先天性胱硫醚尿症病例仅有少数。在患有交感神经肿瘤或原发性肝肿瘤的患者中也发现了胱硫醚尿症。进行这项研究是为了评估胱硫醚尿症在诊断和随访活动性神经母细胞瘤或神经节神经母细胞瘤患者中的意义。研究发现，这些患者中有50%会排泄胱硫醚。胱硫醚尿症的存在或严重程度与转移范围无关，也不与香草扁桃酸排泄量升高相关。相比之下，成功治疗神经母细胞瘤的患者以及患有各种其他肿瘤或疾病的患者均未出现胱硫醚尿症。得出的结论是，胱硫醚尿症是诊断神经母细胞瘤或神经节神经母细胞瘤的有效检测方法，但在鉴别诊断中应考虑原发性肝肿瘤。此外，这些患者在随访过程中出现胱硫醚尿症表明肿瘤疾病仍处于活动状态。
