Morphologic Characteristics and Mutational Analysis of Fumarate Hydratase Deficient Kidney and Smooth Muscle Tumors
| Autor: | Valarie McMurtry, Jonathan Mahlow, Joshua F Coleman, Georgios Deftereos, Rakhi Jattani, Roy R L Bastien, Jacob Durtschi, Elke Jarboe, Lesley Lomo, Deepika Sirohi |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | American Journal of Clinical Pathology. 159:164-171 |
| ISSN: | 1943-7722 0002-9173 |
| Popis: | Objectives Fumarate hydratase (FH)–deficient tumors can occur due to germline or somatic mutations and have distinctive morphologic features. The aims of this study are to refine morphologic criteria and identify mutations in FH-deficient smooth muscle tumors (SMTs). Methods The morphology of SMTs and kidney tumors submitted to a national reference laboratory for FH immunohistochemistry (IHC) was reviewed by two gynecologic and two genitourinary pathologists, respectively. Fisher exact test was used for analysis. Fourteen SMTs were sequenced using the Illumina TruSight Oncology 500 Assay. Results Twenty-two kidney tumors (5 FH deficient) and 51 SMTs (27 FH deficient) were reviewed. FH-deficient kidney tumors exclusively showed cord-like growth, rhabdoid change, and absence of coagulative tumor necrosis and psammoma bodies. FH-deficient SMTs were significantly more likely to have staghorn vessels, eosinophilic cytoplasmic inclusions, schwannoma-like areas, or hereditary leiomyomatosis and renal cell cancer–like nuclei (P Conclusions FH-deficient SMTs submitted for FH immunohistochemistry (IHC) showed distinct morphology. Although FH IHC is used for screening of FH-deficient tumors, FH mutations were identified in only 50% of FH-deficient SMTs. This highlights the need for additional exploration of mechanisms of FH protein loss in tumors lacking FH mutations. |
| Databáze: | OpenAIRE |
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