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AJSP2301 - CME/CMLE - Morphological Characteristic ...
Morphological Characteristics and Mutational Analy ...
Morphological Characteristics and Mutational Analysis of Fumarate Hydratase Deficient Kidney and Smooth Muscle Tumors: A Reference Laboratory Experience
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Pdf Summary
In the study led by Valarie McMurtry and colleagues, the focus was on refining morphological features and identifying mutations in fumarate hydratase (FH)-deficient smooth muscle tumors (SMTs) and kidney tumors. FH-deficient tumors can be due to germline or somatic mutations, with distinct morphological characteristics. The researchers reviewed SMTs and kidney tumors submitted for FH immunohistochemistry (IHC) testing and found that FH-deficient kidney tumors displayed unique features like a cord-like growth pattern and the absence of certain characteristics. FH-deficient SMTs were more likely to exhibit staghorn vessels, eosinophilic inclusions, and other specific features. While FH IHC is commonly used to screen for FH-deficient tumors, mutations in the FH gene were only identified in half of the FH-deficient SMTs sequenced. This study emphasizes the need to further investigate mechanisms of FH protein loss in tumors lacking FH mutations. The findings suggest that FH IHC may not always align with mutational status, highlighting the importance of additional genetic testing. Further research is essential to better understand the underlying mechanisms of FH deficiency in these tumors and the need for comprehensive genetic testing. The study underscores the challenges in accurately identifying FH-deficient tumors based on morphology alone and the role of FH IHC and genetic testing in diagnosing these tumors accurately.
Keywords
Valarie McMurtry
morphological features
fumarate hydratase
FH-deficient tumors
kidney tumors
germline mutations
somatic mutations
immunohistochemistry
staghorn vessels
genetic testing
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