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Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma

C. Ohe, SC. Smith, D. Sirohi, M. Divatia, M. de Peralta-Venturina, GP. Paner, A. Agaimy, MB. Amin, P. Argani, YB. Chen, L. Cheng, M. Colecchia, E. Compérat, I. Werneck da Cunha, JI. Epstein, AJ. Gill, O. Hes, MS. Hirsch, W. Jochum, LP. Kunju, F....

. 2018 ; 42 (3) : 279-292.

Jazyk angličtina Země Spojené státy americké

Typ dokumentu srovnávací studie, časopisecké články, multicentrická studie, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc19012940

Renal medullary carcinomas (RMCs) and collecting duct carcinomas (CDCs) are rare subsets of lethal high-stage, high-grade distal nephron-related adenocarcinomas with a predilection for the renal medullary region. Recent findings have established an emerging group of fumarate hydratase (FH)-deficient tumors related to hereditary leiomyomatosis and renal cell carcinoma (HLRCC-RCCs) syndrome within this morphologic spectrum. Recently developed, reliable ancillary testing has enabled consistent separation between these tumor types. Here, we present the clinicopathologic features and differences in the morphologic patterns between RMC, CDC, and FH-deficient RCC in consequence of these recent developments. This study included a total of 100 cases classified using contemporary criteria and ancillary tests. Thirty-three RMCs (SMARCB1/INI1-deficient, hemoglobinopathy), 38 CDCs (SMARCB1/INI1-retained), and 29 RCCs defined by the FH-deficient phenotype (FH/2SC or FH/2SC with FH mutation, regardless of HLRCC syndromic stigmata/history) were selected. The spectrum of morphologic patterns was critically evaluated, and the differences between the morphologic patterns present in the 3 groups were analyzed statistically. Twenty-five percent of cases initially diagnosed as CDC were reclassified as FH-deficient RCC on the basis of our contemporary diagnostic approach. Among the different overlapping morphologic patterns, sieve-like/cribriform and reticular/yolk sac tumor-like patterns favored RMCs, whereas intracystic papillary and tubulocystic patterns favored FH-deficient RCC. The tubulopapillary pattern favored both CDCs and FH-deficient RCCs, and the multinodular infiltrating papillary pattern favored CDCs. Infiltrating glandular and solid sheets/cords/nested patterns were not statistically different among the 3 groups. Viral inclusion-like macronucleoli, considered as a hallmark of HLRCC-RCCs, were observed significantly more frequently in FH-deficient RCCs. Despite the overlapping morphology found among these clinically aggressive infiltrating high-grade adenocarcinomas of the kidney, reproducible differences in morphology emerged between these categories after rigorous characterization. Finally, we recommend that definitive diagnosis of CDC should only be made if RMC and FH-deficient RCC are excluded.

Anatomic Pathology Mario Penna Institute Hospital Luxemburgo Belo Horizonte Brazil

Brigham and Women's Hospital Boston MA

Calgary Laboratory Services University of Calgary Calgary AB Canada

Cancer Diagnosis and Pathology Group Kolling Institute of Medical Research Royal North Shore Hospital and University of Sydney

Charles University Hospital Pilsen Czech Republic

Department of Pathology AC Camargo Cancer Center São Paulo

Department of Pathology and Laboratory Medicine Cedars Sinai Medical Center Los Angeles CA

Department of Pathology and Laboratory Medicine Cedars Sinai Medical Center Los Angeles CA Department of Pathology and Laboratory Medicine and Urology University of Tennessee Health Science Center Memphis TN

Department of Pathology and Michigan Center for Translational Pathology University of Michigan Ann Arbor MI

Department of Pathology Fondazione IRCCS Istituto Nazionale dei Tumori Milan Italy

Department of Pathology Hôpital Tenon Assistance Publique Hôpitaux de Paris UPMC Paris 6 Paris France

Department of Pathology Houston Methodist Hospital Weill Medical College of Cornell University

Department of Pathology Loyola University Maywood IL

Department of Pathology University of Chicago Chicago

Departments of Pathology and Urology VCU School of Medicine Richmond VA

Division of Pathological Anatomy University of Florence Florence Italy

Douglass Hanly Moir Pathology Sydney NSW Australia

Emory University School of Medicine Atlanta GA

Indiana University School of Medicine Indianapolis IN

Institute of Anatomic Pathology Piracicaba Brazil

Institute of Pathology Friedrich Alexander University Erlangen Germany

Institute of Pathology Kantonsspital St Gallen St Gallen Switzerland

Johns Hopkins Hospital Baltimore MD

MD Anderson Cancer Center Houston TX

Memorial Sloan Kettering Cancer Center New York NY

Pathology and Laboratory Medicine Institute Cleveland Clinic Cleveland OH

William Beaumont Hospital Royal Oak

Citace poskytuje Crossref.org

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