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Carotid body tumor with neck metastasis due to germline SDHB variant: a case report and literature review

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Abstract

Carotid body tumor involving the succinate dehydrogenase subunit B (SDHB) variant reportedly had a higher frequency of metastasis than other variants of succinate dehydrogenase. However, the correlation between genotype and phenotype among patients with carotid body tumor with SDHB gene variant remains unclear. Thus, we present a case of carotid body tumor with neck lymph metastasis caused by a novel SDHB variant, which resulted in long-term disease-free survival achieved after surgery. A 43-year-old man presented to our hospital with a 2-year history of a painless neck mass. Based on the radiographic findings, the patient was diagnosed with carotid body tumor with a possible Shamblin type III tumor. Another mass was detected and suspected to be a lymph node metastasis. The patient underwent resection of the tumor and lymph nodes. The common carotid artery, internal carotid artery, external carotid artery, internal jugular vein, vagal nerve, and hypoglossal nerve were resected with the tumor. Histopathological examination revealed a paraganglioma. The histological findings of the lymph nodes were similar to those of the carotid body tumor and were confirmed to be metastases of paraganglioma. To analyze the germline SDHx variant, a nonsense variant was detected in the SDHB gene at exon 2, c. 136C > T, p. Arg46*. During the follow-up 80 months after surgery, the patient exhibited no signs of recurrence, metastasis, or development of paragangliomas in other organs. This was the first case of carotid body tumor accompanied by neck metastasis caused by a germline nonsense SDHB variant at exon 2, c. 136C > T, p. Arg46*. Carotid body tumor with neck lymph metastasis caused by this nonsense variant could achieve long-term disease-free survival after surgery. Gene analysis, including SDHB variant, should be performed to predict the prognosis and future risk of metastasis. Genetic testing of SDHB may give a crucial information for the treatment and follow-up strategies of carotid body tumor.

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Acknowledgements

We thank the patient for providing consent and Editage (www.editage.jp) for English language editing.

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Authors and Affiliations

  1. Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 1608582, Japan

    Takuya Mikoshiba, Keisuke Yoshihama, Mariko Sekimizu, Shintaro Nakamura, Ryoto Nagai & Hiroyuki Ozawa

  2. Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 1528902, Japan

    Fumihiro Ito

  3. Department of Neurosurgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 1608582, Japan

    Takenori Akiyama

  4. Department of Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 1608582, Japan

    Kentaro Matsubara & Hideaki Obara

Authors
  1. Takuya Mikoshiba
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  2. Keisuke Yoshihama
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  3. Fumihiro Ito
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  4. Mariko Sekimizu
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  5. Shintaro Nakamura
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  6. Ryoto Nagai
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  7. Takenori Akiyama
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  8. Kentaro Matsubara
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  9. Hideaki Obara
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  10. Hiroyuki Ozawa
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Contributions

All authors contributed to the patient’s diagnosis and treatment. HO and KY contributed to gene analysis. TM prepared the draft of the paper. TM and HO were responsible for the writing of the paper. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Takuya Mikoshiba.

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The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. The case report was approved by the Institutional Review Board and Research Ethics Committee of Keio University School of Medicine (reference number 20190093).

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Written informed consent for publication was obtained from the patient.

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Mikoshiba, T., Yoshihama, K., Ito, F. et al. Carotid body tumor with neck metastasis due to germline SDHB variant: a case report and literature review. Int Canc Conf J 11, 6–11 (2022). https://doi.org/10.1007/s13691-021-00522-x

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  • DOI: https://doi.org/10.1007/s13691-021-00522-x

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