Abstract
BackgroundEsophagus squamous cell cancer (ESCC) is the most common cancer in women with 20.2% and second in men with 10.7% relative frequency among all cancer cases diagnosed in Van Region in the east of Turkey. Ninety percent of all esophageal cancer cases are ESCC and 20–30% of them have family history of esophageal cancer. The most clear defined hereditary predisposition associated with ESCC is palmoplantar keratoderma (PPK). To examine the relationship between ESCC and PPK, we have carried out this case control study.MethodsThe case group consisted of 48 subjects who had new diagnosis of ESCC and did not receive any chemo or radiotherapy. The control group consisted of 96 healthy individuals who were visitors of their relatives in the hospital. Two control persons who matched for age, gender, living place (urban /rural) and region were selected for each case. All subjects were evaluated for PPK by dermatologist. Evaluation was graded as none, mild, evident and severe. None and mild subjects were classified as negative for PPK; and others as positive. Relationship between ESCC and PPK was evaluated with odds ratios and confidence intervals for cases with or without family history of ESCC.ResultsThe PPK frequencies were 92.3% in ESCC cases with family history, 62.5% in ESCC cases without family history, 70.8% in all ESCC cases, and 28.1% in the control group. Odds ratios for cases with or without family history of esophageal cancer, and for the whole case group were found as 30.7 (95%CI = 3.8–247.4), 4.3 (95%CI = 1.9–9.8) and 6.2 (95%CI = 2.9–13.3) respectively.ConclusionPresence of PPK lesions represents genetic susceptibility for ESCC. This susceptibility for ESCC is the highest among those who have PPK lesions and a positive family history of esophageal cancer. Furthermore, a PPK sufferer has an increased risk of developing ESCC even if there is no family history of esophageal cancer.
Highlights
Esophagus squamous cell cancer (ESCC) is the most common cancer in women with 20.2% and second in men with 10.7% relative frequency among all cancer cases diagnosed in Van Region in the east of Turkey
Familial aggregation in ESCC was reported in a variety of studies in the literature [13,14,15], it is not known whether the frequency of palmoplantar keratoderma (PPK) in ESCC cases is high in comparison to healthy individuals
The cases who have at least one additional esophagus cancer case among their first degree relatives were accepted as family history positive ESCC cases, and the rest of the group was accepted as family history negative ESCC cases
Summary
Esophagus squamous cell cancer (ESCC) is the most common cancer in women with 20.2% and second in men with 10.7% relative frequency among all cancer cases diagnosed in Van Region in the east of Turkey. The most clear defined hereditary predisposition associated with ESCC is palmoplantar keratoderma (PPK). The same factors except alcohol consumption has been identified as risk factors in two previous studies in Van region [6,7] In addition to these environmental-acquired factors, hereditary – familial risk factors for ESCC has been described. Association between tylosis and ESCC was clearly proven in three good-defined pedigrees [10,11,12] In these families, the risk of developing ESCC among individuals who had PPK was reported as 40–90% until the age of 70 years; and the risk of developing ESCC was very high compared to the family members who had no PPK within the same family. 20–30% of ESCC patients have a family history of esophageal cancer in their relatives
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