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Journals / Marmara Medical Journal / 2026 / Volume: 38 Issue: 1

Succinate dehydrogenase-B fluorescence in situ hybridization in pheochromocytoma-paragangliomas

Beyza Keskin Öztürk(The Council of Forensic Medicine)0000-0003-1389-3517
Kadriye Ebru Akar(The Council of Forensic Medicine,)0000-0003-1512-1166
Muhammed Hasan Toper(MARMARA UNIVERSITY)0000-0002-2009-6164
Pelin Bagci(MARMARA UNIVERSITY)0000-0002-6656-8227
Handan Kaya(MARMARA UNIVERSITY)0000-0002-1147-4178
Leyla Cinel(MARMARA UNIVERSITY)0000-0002-6737-6569
Pages
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Publication Date
2025-01-29
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

It can help identify cases that need genetic testing, even when IHC results are preserved.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Objective: Preoperative identification of familial pheochromocytoma and paraganglioma (PPGL) is crucial, yet often overlooked, leading to missed diagnoses.
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Key Findings & Data:Typically, succinate dehydrogenase-B (SDHB) and fumarate hydratase (FH) tests are applied postoperatively to confirm familial links and assess prognosis.
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Conclusion & Impact:It can help identify cases that need genetic testing, even when IHC results are preserved.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Pheochromocytoma · Paraganglioma · Succinate dehydrogenase-B

Abstract

Objective: Preoperative identification of familial pheochromocytoma and paraganglioma (PPGL) is crucial, yet often overlooked, leading to missed diagnoses. Typically, succinate dehydrogenase-B (SDHB) and fumarate hydratase (FH) tests are applied postoperatively to confirm familial links and assess prognosis. However, routine preoperative multidisciplinary collaboration is limited, causing delayed screening requests. Consequently, routine SDHB and FH immunohistochemistry (IHC) testing is not widely practiced. This study introduces SDHB fluorescence in situ hybridization (FISH) as a diagnostic tool, akin to HER2 IHC-FISH testing in gastric carcinomas. Materials and Methods: Succinate dehydrogenase-B and FH IHC were conducted on 43 cases. FISH analysis was performed for 28 cases with suspected familial origin or SDHB IHC loss to determine whether the protein loss was due to chromosomal changes. Results: Complete SDHB IHC loss occurred in 8 cases, partial loss in 4, and preservation in 31. Complete FH loss occurred in 10 cases. FISH analysis revealed chromosomal breaks in 20 cases (71.4%), including those with SDHB/FH IHC loss or positive clinical history. Ten cases (35.7%) showed a “red-signal only” pattern, suggesting further genetic testing. Conclusion: Succinate dehydrogenase-B FISH serves as a cost-effective tool for early PPGL diagnosis, complementing SDHB and FH IHC results. It can help identify cases that need genetic testing, even when IHC results are preserved.

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Cite This Article

Öztürk, B. K., Akar, K. E., Toper, M. H., Bagci, P., Kaya, H., Cinel, L. (2025). Succinate dehydrogenase-B fluorescence in situ hybridization in pheochromocytoma-paragangliomas. Marmara Medical Journal, Volume: 38 Issue: 1. https://doi.org/10.5472/marumj.1629043

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