Al-Shinnag Mohammad, Marfan Helen, Susman Rachel, Wakeling Jan, Gustafson Sonja, Wood Simon, Mallett Andrew John
Faculty of Medicine, The University of Queensland, Herston, QLD, Australia.
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
Front Oncol. 2021 Sep 16;11:738822. doi: 10.3389/fonc.2021.738822. eCollection 2021.
We aimed to describe and analyse clinical features, characteristics, and adherence to surveillance guidelines in an Australian Birt-Hogg-Dubé syndrome (BHD) and hereditary leiomyomatosis and renal cell cancer (HLRCC) cohort.
All identified patients with a diagnosis of BHD or HLRCC at RBWH 01/01/2014-01/09/2019 were included (HREC/17/QRBW/276). All patients were initially assessed and counselled by a clinical geneticist and then referred to an adult nephrologist. Baseline and incidental clinical variables were extracted and analysed.
Fifty-seven patients were identified (28 BHD, 29 HLRCC) with a median age of 47 years. The median and cumulative follow-up were 1 and 99 years, respectively. Baseline renal MRI occurred in 40/57 patients, and 33/57 had regular MRI as per the national guidelines (eviQ). Of 18/57 without baseline imaging, nine were yet to have imaging, seven were lost follow-up, and two patients had logistic difficulties. RCC was diagnosed in 11/57 patients: two of 28 with BHD were diagnosed with RCC aged 73 and 77, both prior to commencement of surveillance. Nine of 29 patients with HLRCC were diagnosed with RCC (one of 29 during surveillance at 47 years of age) and eight of 29 prior to commencement of surveillance (11-55 years). Amongst BHD patients, cutaneous fibrofolliculomas were noted in 15 patients, lung cysts were detected in seven patients, spontaneous pneumothoraces in five patients, and parotid oncocytoma in two of 28. Amongst those with HLRCC, cutaneous leiomyomas were noted in 19/29, cutaneous leiomyosarcoma diagnosed in one of 29, and uterine fibroids in 13 female patients.
Evidence-based RCC screening in BHD and HLRCC cohort is feasible and able to identify incidental renal lesions. Multidisciplinary patient management enables expedited genetic counselling, diagnosis, longitudinal screening, and RCC management. The success of this clinical model warrants consideration of undertaking longitudinal screening of BHD and HLRCC patients by nephrologists.
我们旨在描述和分析澳大利亚一组Birt-Hogg-Dubé综合征（BHD）和遗传性平滑肌瘤病与肾细胞癌（HLRCC）患者的临床特征、特点以及对监测指南的依从性。
纳入2014年1月1日至2019年9月1日在皇家布里斯班妇女医院确诊为BHD或HLRCC的所有患者（HREC/17/QRBW/276）。所有患者最初由临床遗传学家进行评估和咨询，然后转诊至成人肾病科医生处。提取并分析基线和偶然出现的临床变量。
共确定57例患者（28例BHD，29例HLRCC），中位年龄47岁。中位随访时间和累积随访时间分别为1年和99年。57例患者中有40例进行了基线肾脏MRI检查，57例中有33例按照国家指南（eviQ）定期进行MRI检查。57例中18例未进行基线影像学检查，其中9例尚未进行影像学检查，7例失访，2例存在后勤困难。57例患者中有11例被诊断为肾细胞癌：28例BHD患者中有2例在73岁和77岁时被诊断为肾细胞癌，均在开始监测之前。29例HLRCC患者中有9例被诊断为肾细胞癌（29例中有1例在47岁监测期间），29例中有8例在开始监测之前（11 - 55岁）。在BHD患者中，15例患者发现皮肤纤维毛囊瘤，7例患者检测到肺囊肿，5例患者出现自发性气胸，28例中有2例出现腮腺嗜酸性细胞瘤。在HLRCC患者中，29例中有19例发现皮肤平滑肌瘤，29例中有1例诊断为皮肤平滑肌肉瘤，13例女性患者出现子宫肌瘤。
在BHD和HLRCC队列中进行基于证据的肾细胞癌筛查是可行的，并且能够识别偶然出现的肾脏病变。多学科患者管理能够加快遗传咨询、诊断、纵向筛查和肾细胞癌管理。这种临床模式的成功值得考虑由肾病科医生对BHD和HLRCC患者进行纵向筛查。
