Morphologic Characteristics and Mutational Analysis of Fumarate Hydratase Deficient Kidney and Smooth Muscle Tumors.

Autor:	McMurtry V; The Institute for Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA., Mahlow J; The Institute for Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA., Coleman JF; The Institute for Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA., Deftereos G; The Institute for Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA., Jattani R; ARUP Laboratories, Salt Lake City, UT, USA., Bastien RRL; The Institute for Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA., Durtschi J; ARUP Laboratories, Salt Lake City, UT, USA., Jarboe E; The Institute for Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA., Lomo L; The Institute for Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA., Sirohi D; The Institute for Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA.
Jazyk:	angličtina
Zdroj:	American journal of clinical pathology [Am J Clin Pathol] 2023 Feb 01; Vol. 159 (2), pp. 164-171.
DOI:	10.1093/ajcp/aqac148
Abstrakt:	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 < .05 for each). Seven of 14 sequenced SMTs showed mutations of the FH gene and no other driver mutations. 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. (© The Author(s) 2022. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
Databáze:	MEDLINE
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