Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome

Raymond H Kim; Xiangling Wang; Andrew J Evans; Steven C Campbell; Jane K Nguyen; Kirsten M Farncombe; Charis Eng

doi:10.1038/s41525-020-00148-7

Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome

NPJ Genom Med. 2020 Sep 29:5:40. doi: 10.1038/s41525-020-00148-7. eCollection 2020.

Authors

Raymond H Kim¹, Xiangling Wang^{2

3

4

5}, Andrew J Evans⁶, Steven C Campbell^{7

8}, Jane K Nguyen⁹, Kirsten M Farncombe¹⁰, Charis Eng^{2

3

5

11}

Affiliations

¹ Fred A. Litwin Family Centre in Genetic Medicine, Familial Cancer Clinic, Princess Margaret Cancer Centre, University Health Network, Department of Medicine, University of Toronto, Toronto, ON Canada.
² Center for Personalized Genetic Healthcare, Cleveland Clinic Community Care and Population Health, Cleveland, OH USA.
³ Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH USA.
⁴ Department of Nephrology, Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, OH USA.
⁵ Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Cleveland, OH USA.
⁶ Laboratory Medicine Program, Department of Pathology, University Health Network, Toronto, ON Canada.
⁷ Department of Urology, Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, USA.
⁸ Department of Surgery, Cleveland Clinic Lerner College of Medicine, Cleveland, OH USA.
⁹ Department of Anatomic Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH USA.
¹⁰ Toronto General Hospital/Research Institute, University Health Network, Toronto, ON Canada.
¹¹ Department of Genetics and Genome Sciences, and Germline High Risk Cancer Focus Group, Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH USA.

Abstract

Individuals with PTEN hamartoma tumour syndrome (PHTS), including Cowden syndrome (CS), are susceptible to multiple benign hamartomas and an increased risk of cancer, particularly breast, endometrial, and thyroid. As a result, individuals undergo enhanced surveillance for early detection of these cancers. However, less commonly occurring cancers, such as colorectal and kidney, have insufficient guidelines for early detection. Currently, screening for kidney cancer via renal ultrasound begins at 40 years of age, because there were only rare cases of elevated risk in prospective series under 40. There have, however, been accumulating reports of kidney cancer in individuals with CS in their 30s, illustrating a need to lower the age of surveillance. We present additional evidence of renal cell carcinoma in two individuals with CS in their early twenties, and propose a reassessment of the abdominal surveillance in patients with PHTS. We propose biannual screening for kidney cancer beginning at 20 years of age.

Keywords: Cancer genetics; Cancer screening; Renal cell carcinoma.

Publication types

Case Reports