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Efficacy of Immunohistochemistry for SDHB in the Screening of Hereditary Pheochromocytoma-Paraganglioma

 Hye-Ryeon Choi  ;  Ja-Seung Koo  ;  Cho-Rok Lee  ;  Jan-Dee Lee  ;  Sang-Wook Kang  ;  Young-Seok Jo  ;  Woong-Youn Chung 
 BIOLOGY-BASEL, Vol.10(7) : 677, 2021-07 
Journal Title
Issue Date
SDHB ; genetic screening ; immunohistochemistry ; pheochromocytoma ; sympathetic paraganglioma
The most common genetic backgrounds of hereditary paraganglioma and pheochromocytoma (PPGL) are SDHx germline mutations. Given the fact that the immunohistochemistry (IHC) result for SDHB is always negative regardless of the type of SDHx mutation, we aimed to evaluate the efficacy of using SDHB IHC for screening SDHx mutations in PPGL cases. In total, 52 patients who underwent surgery for PPGL treatment between 2006 and 2020 and underwent genetic analysis at diagnosis were included. Tissue microarrays (TMAs) were constructed with PPGL tissues and IHC for SDHB was performed on TMA sections. All 10 patients with SDHB-negative IHC contained SDHB or SDHD mutations. The genetic test results of patients with SDHB-weakly positive IHC varied (one SDHB, two RET, one VHL, and three unknown gene mutations). There were no SDHx mutations in the SDHB-positive IHC group. Six patients with weakly positive SDHB IHC with primarily unknown genetic status were re-called and underwent next-generation sequencing. None of them had SDHx mutations. In conclusion, SDHB-negative IHC is a cost-effective and reliable method to predict SDHx mutations. However, in the case of weakly positive SDHB staining, an additional gene study should be considered.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Sang Wook(강상욱) ORCID logo https://orcid.org/0000-0001-5355-833X
Koo, Ja Seung(구자승) ORCID logo https://orcid.org/0000-0003-4546-4709
Lee, Jan Dee(이잔디) ORCID logo https://orcid.org/0000-0003-4090-0049
Lee, Cho Rok(이초록) ORCID logo https://orcid.org/0000-0001-7848-3709
Chung, Woong Youn(정웅윤)
Jo, Young Suk(조영석) ORCID logo https://orcid.org/0000-0001-9926-8389
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