[SDHD gene mutation in Mexican population whit carotid body tumor].

INTRODUCTION

Among the U.S. population, the p81L SDHD (11q23) gene mutation is present in 6-36% of patients with sporadic carotid body tumor (CBT), but in familial cases is high as 80%. That is why the P81L mutation is used as a screening method for carotid body tumor in the U.S.

METHODS

We included 25 patients who underwent resection of a CBT from January 2010 to June 2015. After informed consent, a blood sample was taken for genetic testing on real-time polymerase chain reaction, in order to identify p81L mutation in the SDHD gene. The information was analyzed with descriptive statistics, using central tendency and description measures.

RESULTS

In our group, 92% were females, a mean age of 55.5 years, and 52% were Shamblin type II. The most common place of residence was Mexico City, 8% of the patients had family history, about 20% of the patients had a contralateral tumor and 16% had antecedent of another kind of tumor, 4 (16%) p81L SDHD gene mutations were detected, all of them were heterozygous.

CONCLUSIONS

The p81L mutation in the SDHD gene was found in the Mexican population in higher grade that in the U.S. population, which explain the high incidence of this pathology in our country, but we need more studies about this subject.