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New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia

K. Trpkov, O. Hes, SR. Williamson, AJ. Adeniran, A. Agaimy, R. Alaghehbandan, MB. Amin, P. Argani, YB. Chen, L. Cheng, JI. Epstein, JC. Cheville, E. Comperat, IW. da Cunha, JB. Gordetsky, S. Gupta, H. He, MS. Hirsch, PA. Humphrey, P. Kapur, F....

. 2021 ; 34 (7) : 1392-1424. [pub] 20210304

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, směrnice pro lékařskou praxi

Perzistentní odkaz   https://www.medvik.cz/link/bmc22012373

The Genitourinary Pathology Society (GUPS) reviewed recent advances in renal neoplasia, particularly post-2016 World Health Organization (WHO) classification, to provide an update on existing entities, including diagnostic criteria, molecular correlates, and updated nomenclature. Key prognostic features for clear cell renal cell carcinoma (RCC) remain WHO/ISUP grade, AJCC/pTNM stage, coagulative necrosis, and rhabdoid and sarcomatoid differentiation. Accrual of subclonal genetic alterations in clear cell RCC including SETD2, PBRM1, BAP1, loss of chromosome 14q and 9p are associated with variable prognosis, patterns of metastasis, and vulnerability to therapies. Recent National Comprehensive Cancer Network (NCCN) guidelines increasingly adopt immunotherapeutic agents in advanced RCC, including RCC with rhabdoid and sarcomatoid changes. Papillary RCC subtyping is no longer recommended, as WHO/ISUP grade and tumor architecture better predict outcome. New papillary RCC variants/patterns include biphasic, solid, Warthin-like, and papillary renal neoplasm with reverse polarity. For tumors with 'borderline' features between oncocytoma and chromophobe RCC, a term "oncocytic renal neoplasm of low malignant potential, not further classified" is proposed. Clear cell papillary RCC may warrant reclassification as a tumor of low malignant potential. Tubulocystic RCC should only be diagnosed when morphologically pure. MiTF family translocation RCCs exhibit varied morphologic patterns and fusion partners. TFEB-amplified RCC occurs in older patients and is associated with more aggressive behavior. Acquired cystic disease (ACD) RCC-like cysts are likely precursors of ACD-RCC. The diagnosis of renal medullary carcinoma requires a negative SMARCB1 (INI-1) expression and sickle cell trait/disease. Mucinous tubular and spindle cell carcinoma (MTSCC) can be distinguished from papillary RCC with overlapping morphology by losses of chromosomes 1, 4, 6, 8, 9, 13, 14, 15, and 22. MTSCC with adverse histologic features shows frequent CDKN2A/2B (9p) deletions. BRAF mutations unify the metanephric family of tumors. The term "fumarate hydratase deficient RCC" ("FH-deficient RCC") is preferred over "hereditary leiomyomatosis and RCC syndrome-associated RCC". A low threshold for FH, 2SC, and SDHB immunohistochemistry is recommended in difficult to classify RCCs, particularly those with eosinophilic morphology, occurring in younger patients. Current evidence does not support existence of a unique tumor subtype occurring after chemotherapy/radiation in early childhood.

Anatomical Pathology Douglass Hanly Moir Pathology Sydney NSW Australia

Cancer Diagnosis and Pathology Group Kolling Institute of Medical Research Sydney NSW Australia

Department of Clinical Medicine Faculty of Medicine Health and Human Sciences Macquarie University Sydney NSW Australia

Department of Human Pathology Wakayama Medical University Wakayama Japan

Department of Laboratory Medicine and Pathobiology University of Toronto Toronto ON Canada

Department of Pathology and Laboratory Medicine and Urology University of Tennessee Health Science Memphis TN USA

Department of Pathology and Laboratory Medicine Cumming School of Medicine University of Calgary Calgary AB Canada

Department of Pathology and Laboratory Medicine Indiana University School of Medicine Indianapolis IN USA

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

Department of Pathology Brigham and Women's Hospital Harvard Medical School Boston MA USA

Department of Pathology Charles University Prague Faculty of Medicine and University Hospital in Plzen Plzen Czech Republic

Department of Pathology Cruces University Hospital Biocruces Bizkaia Institute Bizkaia Spain

Department of Pathology Faculty of Medicine University of British Columbia Royal Columbian Hospital Vancouver BC Canada

Department of Pathology Health Science Center Peking University Beijing China

Department of Pathology Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris Université de Paris PARCC INSERM Equipe Labellisée par la Ligue contre le Cancer Paris France

Department of Pathology Hôpital Tenon Sorbonne University Paris France

Department of Pathology Jinling Hospital Nanjing University School of Medicine Nanjing China

Department of Pathology Mayo Clinic Rochester MN USA

Department of Pathology MD Anderson Cancer Center Houston TX USA

Department of Pathology Memorial Sloan Kettering Cancer Center New York NY USA

Department of Pathology Microbiology and Immunology Vanderbilt University Medical Center Nashville TN USA

Department of Pathology The University of Alabama at Birmingham Birmingham AL USA

Department of Pathology The University of Texas Southwestern Medical Center Dallas TX USA

Department of Pathology Tufts Medical Center Boston MA USA

Department of Pathology University of Washington School of Medicine Seattle Washington USA

Department of Pathology Yale School of Medicine New Haven CT USA

Department of Surgical Pathology Tata Memorial Hospital Parel and Homi Bhabha National Institute Mumbai India

Departments of Pathology and Laboratory Medicine and Urology University of North Carolina at Chapel Hill Chapel Hill NC USA

Departments of Pathology and Oncology The Johns Hopkins Medical Institutions Baltimore MD USA

Departments of Pathology and Urology VCU School of Medicine Richmond VA USA

Departments of Pathology Urology and Oncology The Johns Hopkins Medical Institutions Baltimore MD USA

Departments of Pathology Urology Kidney Cancer Program Simmons Comprehensive Cancer Center University of Texas Southwestern Medical Center Dallas TX USA

Institute of Pathology Friedrich Alexander University Erlangen Nürnberg University Hospital Erlangen Erlangen Germany

NSW Health Pathology Department of Anatomical Pathology Royal North Shore Hospital Sydney NSW Australia

Pathology Department Rede D'OR Sao Luiz Sao Paulo SP Brazil

Robert J Tomsich Pathology and Laboratory Medicine Institute Cleveland Clinic Cleveland OH USA

Sydney Medical School University of Sydney Sydney NSW Australia

Citace poskytuje Crossref.org

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$a The Genitourinary Pathology Society (GUPS) reviewed recent advances in renal neoplasia, particularly post-2016 World Health Organization (WHO) classification, to provide an update on existing entities, including diagnostic criteria, molecular correlates, and updated nomenclature. Key prognostic features for clear cell renal cell carcinoma (RCC) remain WHO/ISUP grade, AJCC/pTNM stage, coagulative necrosis, and rhabdoid and sarcomatoid differentiation. Accrual of subclonal genetic alterations in clear cell RCC including SETD2, PBRM1, BAP1, loss of chromosome 14q and 9p are associated with variable prognosis, patterns of metastasis, and vulnerability to therapies. Recent National Comprehensive Cancer Network (NCCN) guidelines increasingly adopt immunotherapeutic agents in advanced RCC, including RCC with rhabdoid and sarcomatoid changes. Papillary RCC subtyping is no longer recommended, as WHO/ISUP grade and tumor architecture better predict outcome. New papillary RCC variants/patterns include biphasic, solid, Warthin-like, and papillary renal neoplasm with reverse polarity. For tumors with 'borderline' features between oncocytoma and chromophobe RCC, a term "oncocytic renal neoplasm of low malignant potential, not further classified" is proposed. Clear cell papillary RCC may warrant reclassification as a tumor of low malignant potential. Tubulocystic RCC should only be diagnosed when morphologically pure. MiTF family translocation RCCs exhibit varied morphologic patterns and fusion partners. TFEB-amplified RCC occurs in older patients and is associated with more aggressive behavior. Acquired cystic disease (ACD) RCC-like cysts are likely precursors of ACD-RCC. The diagnosis of renal medullary carcinoma requires a negative SMARCB1 (INI-1) expression and sickle cell trait/disease. Mucinous tubular and spindle cell carcinoma (MTSCC) can be distinguished from papillary RCC with overlapping morphology by losses of chromosomes 1, 4, 6, 8, 9, 13, 14, 15, and 22. MTSCC with adverse histologic features shows frequent CDKN2A/2B (9p) deletions. BRAF mutations unify the metanephric family of tumors. The term "fumarate hydratase deficient RCC" ("FH-deficient RCC") is preferred over "hereditary leiomyomatosis and RCC syndrome-associated RCC". A low threshold for FH, 2SC, and SDHB immunohistochemistry is recommended in difficult to classify RCCs, particularly those with eosinophilic morphology, occurring in younger patients. Current evidence does not support existence of a unique tumor subtype occurring after chemotherapy/radiation in early childhood.
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