Nuclear Pedigree Criteria for the Identification of Individuals Suspected to be at Risk of an Inherited Predisposition to Renal Cancer

Aleksandra Tołoczko-Grabarek,Andrzej Sikorski,Jan Lubiński,Marek Brzosko

doi:10.1186/1897-4287-3-3-129

Aleksandra Tołoczko-Grabarek, Andrzej Sikorski + Show 2 more

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https://doi.org/10.1186/1897-4287-3-3-129

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Abstract

Renal clear cell carcinomas represent about 3% of all visceral cancers and account for approximately 85% of renal cancers in adults. Environmental and genetic factors are involved in the development of renal cancer. Although to date there are 19 hereditary syndromes described in which renal cell cancer may occur, only four syndromes with an unequivocal genetic predisposition to renal cell carcinoma have been identified: VHL syndrome (mutations in the VHL gene), hereditary clear cell carcinoma (translocations t(3:8), t(2:3)), hereditary papillary carcinoma (mutations in the MET protooncogene) and tuberous sclerosis (mutations in the TSC1 and TSC2 genes). Little is known genetically about the other forms of familial renal cell cancer. Since there is a growing awareness about the necessity of early intervention, clinical criteria have been developed that aid in the identification of hereditary forms of renal cancer. The aim of the current study was to identify minimal inclusion criteria so that nuclear pedigree families can be ascertained for risk assessment and/or kidney tumour screening. The results reveal that inclusion features described herein, such as (a) renal clear cell cancer diagnosed before 55 years of age, and (b) renal clear cell cancer and gastric cancer or lung cancer among first degree relatives, are useful in identifying suspected hereditary clear cell renal cancer patients.

Highlights

Renal clear cell carcinomas represent about 3% of all visceral cancers and account for 85% of renal cancers in adults
Group B: a total of 100 individuals diagnosed with cell renal carcinoma (CCRC) between the years 1993 and 1997 irrespective of family history were collected from the city of Szczecin
The comparison of the five inclusion features (IF) was undertaken to identify the most consistent criteria that can be employed in a clinical setting for the identification of suspected hereditary renal cell cancer, based on nuclear pedigree data

Summary

Introduction

Renal clear cell carcinomas represent about 3% of all visceral cancers and account for 85% of renal cancers in adults. The tumours occur most often in older individuals, usually in the sixth and seventh decades of life, and are often diagnosed at incurable stages [1]. In Western countries the frequency of renal cancer remains relatively high, there being approximately 30,000 new cases and 12,000 deaths per year from the disease [1]. The causes of kidney cancer are believed to be environmental (such as cigarette smoking, asbestos, petroleum products, heavy metals, unopposed oestrogen therapy, hypertension and obesity), genetic or a mixture of both [1]. To date there are 19 hereditary syndromes described in which renal cell cancer may occur (Table 1). Hereditary Cancer in Clinical Practice 2005; 3(3)

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