2023/03/01
Keio University School of Medicine
A research group led by Professor Hiroyuki Ozawa and Dr. Keisuke Yoshihama of the Department of Otolaryngology, Keio University School of Medicine, in a joint study with Dr. Tatsuo Matsunaga, Director of the Department of Hearing and Balance Research at Tokyo Medical Center, and Professor Kenjiro Kosaki of the Center for Medical Genetics, Keio University School of Medicine, conducted genetic testing and protein expression analysis of carotid body tumors, thereby elucidating their clinical genetic background.
When carotid body tumors become difficult to operate on due to growth or metastasis, there is no curative treatment, and there is a need to elucidate new pathologies that could lead to the development of new treatments such as drugs. Carotid body tumors are also known as hereditary tumors, but their genetic characteristics in Japan have not been fully elucidated. In this study, by analyzing DNA collected from patients with carotid body tumors, four types of causative genes were identified. In addition, DNA variants (changes in DNA) were also detected in other cancer-related genes. Furthermore, analysis of protein expression in carotid body tumors using immunohistochemistry revealed that while some tumors are caused by genetic mutations, others suggest the existence of other pathogenic causes.
The clinical genetic background of carotid body tumors clarified by this research group can be utilized for accurate diagnosis and genetic counseling for this disease, and may also be applied to the development of new therapeutic methods through future research advancements.
The results of this research were published in the online edition of the journal Clinical Genetics on January 3, 2023 (US time).
For the full press release, please see below.