子宫静脉内平滑肌瘤病(intravenous leiomyomatosis of the uterus,IVL)是子宫平滑肌瘤的一种特殊类型,可以是子宫肌瘤向静脉管腔内生长或由血管壁本身的平滑肌组织侵入静脉血管腔内引起,其特征为静脉内良性平滑肌瘤组织生长形成瘤栓,...子宫静脉内平滑肌瘤病(intravenous leiomyomatosis of the uterus,IVL)是子宫平滑肌瘤的一种特殊类型,可以是子宫肌瘤向静脉管腔内生长或由血管壁本身的平滑肌组织侵入静脉血管腔内引起,其特征为静脉内良性平滑肌瘤组织生长形成瘤栓,可生长在小、中、大静脉内。Norris等 [1] 1975年对IVL的临床和病例特点进行了全面系统地分析。IVL延伸至右心系统并到达肺动脉的症状极为罕见,我院心血管外科 2018年 9月收治了1例腔静脉占位及右心肿瘤患者,在体外循环(cardiopulmonary bypass,CPB)下完成了左侧髂静脉、下腔静脉、右心房、右心室、肺动脉内瘤体摘除术,术后经病理证实为IVL,现报告如下。展开更多
Objective: To investigate the clinical features of the multiple cutaneous and uterine leiomyomatosis (MCUL) syndrome, including the hereditary leiomyomatosis and renal cell cancer syndrome. Design: A case series of pa...Objective: To investigate the clinical features of the multiple cutaneous and uterine leiomyomatosis (MCUL) syndrome, including the hereditary leiomyomatosis and renal cell cancer syndrome. Design: A case series of patients with multiple skin leiomyomas solicited via a circular letter to dermatologists. Setting: Research institute. Patients: A total of 108 affected individuals, including 46 probands and 62 affected relatives. Main Outcome Measures: The proportion of probands with underlying fumarate hydratase (FH) mutations, the penetrance of FH mutations, and clinicopathologic features of MCUL. Results: Forty-one (89% ) of 46 probands with multiple skin leiomyomas had evidence of germline FH mutations, which were highly penetrant. All 26 male mutation carriers had skin leiomyomas. Of 67 women with FH mutations, 46 (69% ) had both skin and uterine leiomyomas; 10 (15% ) had only skin leiomyomas;5(7% )had only uterine leiomyomas;and 6(9% )were clinically unaffected. Patients presented with skin leiomyomas at a mean age of 24 years and had a mean of 25 lesions. Forty-one individuals (89% ) reported painful lesions, particularly in response to cold or trauma. Fibroids were histologically unremarkable, highly symptomatic, and associated with a high risk of early hysterectomy. One individual had a very aggressive collecting duct renal cancer. The G354R FH mutation predisposed patients to uterine fibroids without skin leiomyomas (P=.03). Many patients with skin leiomyomas had not previously presented for medical attention. Fibroids were rarely recognized as cases of MCUL. Conclusions: Highly penetrant FH mutations underlie MCUL. Increased clinical awareness is important because of the associated risk of severe uterine fibroids and, in some cases, aggressive renal cancer.展开更多
文摘子宫静脉内平滑肌瘤病(intravenous leiomyomatosis of the uterus,IVL)是子宫平滑肌瘤的一种特殊类型,可以是子宫肌瘤向静脉管腔内生长或由血管壁本身的平滑肌组织侵入静脉血管腔内引起,其特征为静脉内良性平滑肌瘤组织生长形成瘤栓,可生长在小、中、大静脉内。Norris等 [1] 1975年对IVL的临床和病例特点进行了全面系统地分析。IVL延伸至右心系统并到达肺动脉的症状极为罕见,我院心血管外科 2018年 9月收治了1例腔静脉占位及右心肿瘤患者,在体外循环(cardiopulmonary bypass,CPB)下完成了左侧髂静脉、下腔静脉、右心房、右心室、肺动脉内瘤体摘除术,术后经病理证实为IVL,现报告如下。
文摘目的探讨传统子宫肌瘤剔除术+促性腺激素释放激素激动剂(gonadotropin releasing hormone agonist,GnRH-a)治疗弥漫性子宫平滑肌瘤病的效果。方法对6例弥漫性子宫平滑肌瘤病患者采用传统的经腹子宫肌瘤剔除术,术后辅以GnRH-a治疗。对每例术中切除肌瘤个数等进行统计,并随访术后情况。结果术中平均切除肌瘤数68个(19~135个),平均出血量283 m L(100~600 m L),平均手术时间132 min(50~185 min)。所有患者术后月经恢复正常,贫血症状改善。2例成功妊娠,孕期及产后平稳,无并发症发生。结论传统子宫肌瘤剔除术+GnRH-a治疗对于希望保留生育功能的弥漫性子宫平滑肌瘤病患者可作为一种治疗选择。
文摘Objective: To investigate the clinical features of the multiple cutaneous and uterine leiomyomatosis (MCUL) syndrome, including the hereditary leiomyomatosis and renal cell cancer syndrome. Design: A case series of patients with multiple skin leiomyomas solicited via a circular letter to dermatologists. Setting: Research institute. Patients: A total of 108 affected individuals, including 46 probands and 62 affected relatives. Main Outcome Measures: The proportion of probands with underlying fumarate hydratase (FH) mutations, the penetrance of FH mutations, and clinicopathologic features of MCUL. Results: Forty-one (89% ) of 46 probands with multiple skin leiomyomas had evidence of germline FH mutations, which were highly penetrant. All 26 male mutation carriers had skin leiomyomas. Of 67 women with FH mutations, 46 (69% ) had both skin and uterine leiomyomas; 10 (15% ) had only skin leiomyomas;5(7% )had only uterine leiomyomas;and 6(9% )were clinically unaffected. Patients presented with skin leiomyomas at a mean age of 24 years and had a mean of 25 lesions. Forty-one individuals (89% ) reported painful lesions, particularly in response to cold or trauma. Fibroids were histologically unremarkable, highly symptomatic, and associated with a high risk of early hysterectomy. One individual had a very aggressive collecting duct renal cancer. The G354R FH mutation predisposed patients to uterine fibroids without skin leiomyomas (P=.03). Many patients with skin leiomyomas had not previously presented for medical attention. Fibroids were rarely recognized as cases of MCUL. Conclusions: Highly penetrant FH mutations underlie MCUL. Increased clinical awareness is important because of the associated risk of severe uterine fibroids and, in some cases, aggressive renal cancer.
