There has been no attempt to clarify the status of carotid body tumor （CBT） patients in Japan. We analyzed CBT patients throughout Japan by gathering information on CBT patients from institutions that perform head and neck surgeries. Three-hundred ninety-nine patients were referred to 112 institutions during the past 20 years and 150 patients were registered in our study. There were 87 females and 63 males and their mean age was 48.0 years old. Eighteen patients had a family history of paragangliomas. Fifteen patients had bilateral CBTs. Out of these patients, informed consent was obtained from 61 cases and genetic variations were analyzed.
There were 25 cases （41.7％） without pathogenic genetic variants. Twenty-four cases （40.0％）, 9 cases （15.0％）, 1 case and 1 case had SDHD （succinate dehydrogenase complex subunit D）, SDHB （subunit B）, SDHC （subunit C） and VHL （von Hippel-Lindau） pathogenic variants, respectively. These results indicated the possibility that some gene alterations have penetrated into certain areas of Japan such as Miyagi, Iwate and Nagasaki. Further investigation is needed to clarify the gene alterations of CBT patients in these high-incidence areas and all over the country.