HEREDITARY LEIOMOYOMATOSIS AND RENAL CELL CARCINOMA SYNDROME (HRLCC): AN EFFECTIVE MULTIDISCIPLINARY APPROACH TO A HEREDITARY RENAL CANCER PREDISPOSING SYNDROME

M AL-SHINNAG1,2
1Kidney Health Service, Royal Brisbane And Women’s Hospital , Herston, Australia, 2University of Queensland, Herston, Australia

Background: HLRCC is an autosomal dominant disorder caused by FH mutations characterized by skin piloleiomyomas, uterine leiomyomas and RCC. The cumulative risk of RCC is 10-16% with mean age at first RCC diagnosis of 41years. Life-long RCC screening recommended.
Aim: To assess adherence to surveillance guidelines in an Australian HLRCC cohort, and to describe disease characteristics.
Method: All patients with a diagnosis (clinical/genetic) of HLRCC at RBWH from 01/01/2014-31/12/2017 were included (HREC/17/QRBW/276). All patients were assessed and counselled by a Clinical Geneticist then referred to an Adult Nephrologist. Baseline and incident clinical variables were extracted and analysed.
Results: 22 patients were identified with median age of 57years. 16/22 were female. The median and cumulative follow-up time were 2 and 37years respectively. 7/22 had Chronic Kidney Disease. Cutaneous leiomyoma were noted in 15/22, cutaneous leiomyosarcoma in 1/22, and uterine fibroids in 10/16 female patients.
RCC was diagnosed in 1/22 during surveillance (age 47years) with a second patient awaiting surgical intervention for potential RCC (age 66years). 4/22 had RCC diagnosed prior to commencement of surveillance (ages 11-43years) with 3/4 being from the same family.  Surveillance MRI occurred in 19/22 patients, 1/22 was lost to follow up before first MRI, 1/22 is yet to have first MRI and 1/22 has experienced logistic difficulties due to residing in a rural setting. 18/22 patients have regular annual review. Of the remaining, 2/4 have been lost to follow up and 2/4 have been onward referred for follow up by their regional renal service
Conclusion: Evidence-based RCC screening is feasible and able to identify incident renal lesions. Multidisciplinary patient management enables expedited genetic counselling, diagnosis, longitudinal screening and RCC management.


Biography:
Mohammad Al-shinnag is a Basic Physician Trainee who is currently working in Queensland Health. He has strong interest in clinical genetics. Mohammad Graduated from School of Medicine , Jordan University of Science and Technology in 2008 and moved to Brisbane, Australia in 2011 to start his Journey in clinical training

About ANZSN

The ASM is hosted by Australian and New Zealand Society of Nephrology.

The aims of the Society are to promote and support the study of the kidney and urinary tract in health and disease, and to ensure the highest professional standards for the practice of nephrology in Australia and New Zealand.

Conference Managers

Please contact the team at Conference Design with any questions regarding the Annual Scientific Meeting

© 2015 - 2016 Conference Design Pty Ltd