Figure 1. Paraganglioma (PGL) and pheochromocytoma (PCC) occurring in patients with germline succinate dehydrogenase (SDHx) subunit gene mutations. (A, D, G) Hematoxylin and eosin (H&E), (B, E, H) SDHB immunohistochemistry (IHC), and (C, F, I) fumarate hydratase (FH) IHC images from PGL/PCC from patients with known germline SDHx subunit mutations. The majority of tumors (86.4%) demonstrated loss of cytoplasmic SDHB IHC staining (B and E), although rare tumors showed either retained (H) or patchy (i.e., “indeterminate”) cytoplasmic SDHB IHC staining (data not shown). FH IHC staining was retained in all tumors (C, F, I). Magnification = 200X.
The work entitled The Utility of SDHB and FH Immunohistochemistry in Patients Evaluated for Hereditary Paraganglioma-Pheochromocytoma Syndromes by Aaron M. Udager, MD, PhD, and colleagues in the Department of Pathology was published in Human Pathology on October 24th, 2017. This work showed that, in the appropriate clinical settings, SDHB and FH immunohistochemistry (IHC) may be useful for identifying paraganglioma (PGL) and pheochromocytoma (PCC) patients for Medical Genetics evaluation.
Dr. Udager concludes that, “this study confirms the utility of SDHB IHC for identifying patients with germline mutations in succinate dehydrogenase (SDHx) subunit genes, although our results indicate that specific clinicopathologic parameters (i.e., PCC, head and neck PGL, etc.) may affect the positive predictive value of SDHB IHC in these specific contexts. In addition, awareness of potential false negative SDHB IHC results in PCC patients with germline von Hippel-Lindau (VHL) gene mutations may be helpful in the triage of molecular genetic testing when no germline mutations in SDHx subunit genes are identified. Finally, we describe the first reported assessment of fumarate hydratase (FH) IHC in PGL/PCC from patients evaluated for hereditary PGL/PCC syndromes and demonstrate that loss of cytoplasmic FH IHC may be associated with known germline FH mutations”.
The entire publication may be read here.
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INSIDE PATHOLOGYAbout Our NewsletterInside Pathology is an newsletter published by the Chairman's Office to bring news and updates from inside the department's research and to become familiar with those leading it. It is our hope that those who read it will enjoy hearing about those new and familiar, and perhaps help in furthering our research. CONTENTS
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Residents Ashley Bradt (left) and William Perry work at a multi-headed scope in our new facility. 2019Department Chair |
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Patient specimens poised for COVID-19 PCR testing. 2021Department Chair |
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Dr. Pantanowitz demonstrates using machine learning in analyzing slides. 2022Department Chair |
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(Left to Right) Drs. Angela Wu, Laura Lamps, and Maria Westerhoff. 2023Department Chair |
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Illustration representing the various machines and processing used within our labs. 2024Department Chair |
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MLabs, established in 1985, functions as a portal to provide pathologists, hospitals. and other reference laboratories access to the faculty, staff and laboratories of the University of Michigan Health System’s Department of Pathology. MLabs is a recognized leader for advanced molecular diagnostic testing, helpful consultants and exceptional customer service.