Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review.
Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review.
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DOI：
10.1186/s13023-020-01653-9
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发表时间：
2021-01-18
影响因子：
3.7
通讯作者：
Bygum A
中科院分区：
文献类型：
--
作者：
Chayed Z;Kristensen LK;Ousager LB;Rønlund K;Bygum A
遗传性平滑肌瘤病和肾细胞癌（HLRCC）是一种罕见的遗传性皮肤病，以皮肤平滑肌瘤（CLM）、子宫平滑肌瘤（ULM）和肾细胞癌（RCC）为特征。5例HLRCC患者提供了一个已发表的HLRCC病例汇编数据库，以增加对HLRCC的了解。在此基础上，提出了监控方案。我们的综述基于PubMed检索，检索了2019年11月之前发表的病例报告和队列研究。该研究获得了97篇原始论文，共涉及672名HLRCC患者。474例（71.5%）患者出现clm，平均年龄为28岁。5例有皮肤平滑肌肉瘤。356名女性（83%）存在ulm，而2名女性患有子宫平滑肌肉瘤。ulm的平均诊断年龄为32岁，最小的诊断年龄为17岁。ULMs最常见的手术治疗是子宫切除术，平均年龄为35岁，最年轻的患者为19岁。189例患者（34.9%）存在rcc，其中一半有转移性疾病。诊断的平均年龄为36岁，最年轻的患者在11岁时被诊断为RCC。我们建议制定HLRCC的监测方案，包括每2年进行一次皮肤检查，从10岁开始每年进行一次磁共振成像以监测早期rcc，从15岁开始每年进行一次妇科检查，并在18岁时进行子宫切除术和计划生育风险咨询。clm通常是HLRCC的最早表现，这就是为什么识别这些病变，进行活检，并及时转介遗传咨询对于早期诊断HLRCC非常重要。
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are presented with a compiled database of published HLRCC cases to increase understanding of HLRCC. Furthermore, a surveillance program is suggested. Our review is based on a PubMed search which retrieved case reports and cohort studies published before November 2019. The search yielded 97 original papers with a total of 672 HLRCC patients. CLMs were present in 474 patients (71.5%), developed at the mean age of 28 years. Five patients had cutaneous leiomyosarcomas. ULMs were present in 356 women (83%), while two had uterine leiomyosarcoma. ULMs were diagnosed at a mean age of 32 years, with the youngest diagnosed at age 17 years. The most common surgical treatment for ULMs was hysterectomy, performed at a mean age of 35 years, with the youngest patient being 19 years old. RCCs were present in 189 patients (34.9%), of which half had metastatic disease. The mean age of diagnosis was 36 years with the youngest patient diagnosed with RCC at the age of 11 years. We suggest a surveillance program for HLRCC including a dermatological examination once every 2 years, annual magnetic resonance imaging starting at the age of 10 years to monitor for early RCCs, annual gynecological examinations from the age of 15 years and counseling regarding risk of hysterectomy and family planning at the age of 18 years. CLMs are often the earliest manifestation of HLRCC, which is why recognizing these lesions, performing a biopsy, and making a prompt referral to genetic counseling is important in order to diagnose HLRCC early.
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DOI：
10.2147/ijnrd.s42097
发表时间：
2014
影响因子：
2
作者：
Schmidt LS;Linehan WM
通讯作者：
Linehan WM
影响因子：
1.9
作者：
Karakiewicz, Pierre. I.;Jeldres, Claudio;Patard, Jean-Jacques
通讯作者：
Patard, Jean-Jacques
影响因子：
2.2
作者：
Lehtonen, Heli J.
通讯作者：
Lehtonen, Heli J.
影响因子：
9.8
作者：
Toro, JR;Nickerson, ML;Zbar, B
通讯作者：
Zbar, B
影响因子：
4.4
作者：
Brown, Sarah;Brennan, Paul;Rajan, Neil
通讯作者：
Rajan, Neil