Hereditary Kidney Cancer Syndromes

Renal cell carcinoma (RCC) is the exemplar of how the understanding of the molecular pathogenesis of rare inherited disorders can inform an understanding of the key pathways involved in the pathogenesis of sporadic cancer. In this chapter we describe the clinical and pathological features of the inherited kidney cancer syndromes: von Hippel Lindau disease (VHL); Birt-Hogg-Dube syndrome; hereditary leiomyomatosis and renal cancer syndrome; succinate dehydrogenase disorders; hereditary papillary renal cancer; and translocation-associated kidney cancer. Though individually rare, recognition of individuals with familial kidney cancer is important as they present specific clinical challenges to the urological surgeon because of their propensity to develop multicentric/bilateral tumours. Furthermore, different familial RCC predisposition syndromes are associated with different extra renal clinical features and have specific surveillance needs. Despite differences in clinical features, there is some overlap in the molecular pathophysiology between the disorders and these highlight the key signalling pathways for RCC oncogenesis.

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Hereditary kidney cancer syndromes: Genetic disorders driven by alterations in metabolism and epigenome regulation

Cancer Science ◽

10.1111/cas.13503 ◽

2018 ◽

Vol 109 (3) ◽

pp. 581-586 ◽

Cited By ~ 7

Author(s):

Hisashi Hasumi ◽

Masahiro Yao

Keyword(s):

Kidney Cancer ◽

Genetic Disorders ◽

Cancer Syndromes

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Genetic Kidney Cancer Syndromes

Journal of the National Comprehensive Cancer Network ◽

10.6004/jnccn.2014.0129 ◽

2014 ◽

Vol 12 (9) ◽

pp. 1347-1355 ◽

Cited By ~ 17

Author(s):

Thai H. Ho ◽

Eric Jonasch

Keyword(s):

Kidney Cancer ◽

Cancer Syndromes

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Outcome of genetic evaluation of patients with kidney cancer referred for suspected hereditary cancer syndromes

Urologic Oncology Seminars and Original Investigations ◽

10.1016/j.urolonc.2015.11.021 ◽

2016 ◽

Vol 34 (5) ◽

pp. 238.e1-238.e7 ◽

Cited By ~ 11

Author(s):

Kelly L. Stratton ◽

Shaheen Alanee ◽

Emily A. Glogowski ◽

Kasmintan A. Schrader ◽

Rohini Rau-Murthy ◽

...

Keyword(s):

Kidney Cancer ◽

Hereditary Cancer ◽

Genetic Evaluation ◽

Hereditary Cancer Syndromes ◽

Cancer Syndromes

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Hereditary Kidney Cancer Syndromes and Surgical Management of the Small Renal Mass

Urologic Clinics of North America ◽

10.1016/j.ucl.2016.12.002 ◽

2017 ◽

Vol 44 (2) ◽

pp. 155-167 ◽

Cited By ~ 4

Author(s):

Kevin A. Nguyen ◽

Jamil S. Syed ◽

Brian Shuch

Keyword(s):

Surgical Management ◽

Kidney Cancer ◽

Renal Mass ◽

Small Renal Mass ◽

Cancer Syndromes

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Current understanding of the molecular mechanisms of kidney cancer: a primer for urologists

Canadian Urological Association Journal ◽

10.5489/cuaj.63 ◽

2012 ◽

Vol 1 (2S) ◽

Cited By ~ 1

Author(s):

Darwin L. Lim ◽

Raymond Ko ◽

Stephen E. Pautler

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Kidney Cancer ◽

Renal Cell ◽

Genetic Basis ◽

Molecular Mechanisms ◽

Targeted Drugs ◽

Inherited Predisposition ◽

Cancer Syndromes ◽

Malignant Condition

Renal cell carcinoma (RCC), the fifth leading malignant condition for menand tenth for women, accounts for 3% of all malignancies in Canada. It is aheterogeneous epithelial malignancy with different subtypes and varied tumourbiology. Although most cases of RCC are sporadic, up to 4% of patients havean inherited predisposition for the disease. In this article, we review the currentmolecular genetics of the different subtypes in hereditary and sporadic RCC. Significant developments in understanding the underlying genetic basis of RCC over the last 2 decades are attributed to intensive research about rareinherited renal cancer syndromes and the identification of the genes responsiblefor them. Many of these genes are also found in sporadic RCC. Understanding the molecular mechanisms involved in the pathogenesis of RCC has aided the development of molecular-targeted drugs for this disease.

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