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Abstract: FR-PO1035

Birt Hogg Dubé Syndrome (BHD) and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HRLCC): An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes

Session Information

Category: Genetic Diseases of the Kidney

  • 1002 Genetic Diseases of the Kidney: Non-Cystic

Authors

  • Mallett, Andrew John, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia
  • Mar fan, Helen, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia
  • Susman, Rachel, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia
  • Wakeling, Janette L., Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia
  • Wood, Simon T., Princess Alexandra Hospital, Brisbane, Queensland, Australia
  • Al-shinnag, Mohammad, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia
Background

BHD and HLRCC are rare hereditary disorders caused by germline FLCNand FHmutations respectively. BHD is characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and Renal Cell Carcinoma (RCC). HLRCCis characterized by skin piloleiomyomas, uterine leiomyomas and RCC.
BHD and HLRCC are autosomal dominant disorders and have estimated cumulative risk of RCC 16% with life-long screening recommended. We aimed to assess adherence to surveillance guidelines in an Australian BHD and HLRCC cohort and to describe disease characteristics.

Methods

All patients with a diagnosis of BHD or HLRCC at RBWH 01/01/2014-31/12/2017 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.

Results

40 patients were identified (18 BHD, 22 HLRCC) with a median age of 49.5years. The median and cumulative follow up were 1year and 76years respectively.
Surveillance renal MRI occurred in 32/40 patients on annual basis. Of 8/40 without surveillance imaging 4 were yet to have imaging, 3 were lost follow up and 1 patient had logistic difficulties.
RCC was diagnosed in 8/40 patients: 2/18 with BHD were diagnosed with RCC aged 73 and 77 both prior to commencement of surveillance. 6/22 patients with HLRCC were diagnosed with RCC (2/22 during surveillance) and 4/22 prior to commencement of surveillance (11-43 years).
Amongst BHD patients, cutaneous fibrofolliculoma was noted in 8/18 patients, lung cysts in 3/18 patients, spontaneous pneumothorax in 3/18 patients, and past parotid oncocytoma in 2/18.
Amongst those with HLRCC, cutaneous leiomyoma were noted in 15/22, cutaneous leiomyosarcoma in 1/22 and uterine fibroids in 10/16 female patients.

Conclusion

Evidence-based RCC screening in BHD and HLRCC cohort is feasible and able to identify incident 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.