دورية أكاديمية
أعرض في EDS

NF2-mutated Renal Carcinomas Have Common Morphologic Features Which Overlap With Biphasic Hyalinizing Psammomatous Renal Cell Carcinoma: A Comprehensive Study of 14 Cases.

التفاصيل البيبلوغرافية
العنوان: NF2-mutated Renal Carcinomas Have Common Morphologic Features Which Overlap With Biphasic Hyalinizing Psammomatous Renal Cell Carcinoma: A Comprehensive Study of 14 Cases.
المؤلفون: Paintal A; Department of Pathology and Laboratory Medicine, NorthShore University HealthSystem, Evanston., Tjota MY; Department of Pathology, The University of Chicago., Wang P; Department of Pathology, The University of Chicago., Fitzpatrick C; Department of Pathology, The University of Chicago., Wanjari P; Department of Pathology, The University of Chicago., Stadler WM; Section of Hematology and Oncology, Comprehensive Cancer Center, The University of Chicago, Chicago, IL., Gallan AJ; Department of Pathology, Medical College of Wisconsin, Milwaukee, WI., Segal J; Department of Pathology, The University of Chicago., Antic T; Department of Pathology, The University of Chicago.
المصدر: The American journal of surgical pathology [Am J Surg Pathol] 2022 May 01; Vol. 46 (5), pp. 617-627.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 7707904 Publication Model: Print Cited Medium: Internet ISSN: 1532-0979 (Electronic) Linking ISSN: 01475185 NLM ISO Abbreviation: Am J Surg Pathol Subsets: MEDLINE
أسماء مطبوعة: Publication: <2015- > : Philadelphia, PA : Wolters Kluwer Health, Inc.
Original Publication: New York, Masson.
مواضيع طبية MeSH: Carcinoma, Renal Cell*/pathology , Kidney Neoplasms*/pathology , Meningeal Neoplasms*/genetics , Meningioma*/genetics, Neurofibromin 2/*genetics, Biomarkers, Tumor/genetics ; Female ; Genes, Neurofibromatosis 2 ; Humans ; Male
مستخلص: Genetic alterations involving NF2 occur at low frequencies in renal cell carcinoma across all of the major histologic subtypes and have been associated with adverse outcomes. To better characterize tumors harboring these alterations, we identified 14 cases with NF2 mutations that had been previously diagnosed as papillary renal cell carcinoma; renal cell carcinoma, unclassified; or translocation associated renal cell carcinoma. These tumors were characterized by a tubulopapillary architecture, sclerotic stroma, microscopic coagulative necrosis, and psammomatous calcifications. All the cases displayed eosinophilic cytology as well as a high nuclear grade (World Health Organization/International Society of Urological Pathology [WHO/ISUP] grade 3 to 4) in all but 1 case. A subset of cases shared features with the recently described biphasic hyalinizing psammomatous renal cell carcinoma. Next-generation sequencing demonstrated mutations involving NF2 gene in all cases. In 10 cases, this was paired with the loss of chromosome 22. Additional mutations involving PBRM1 were found in 5 cases that were associated with a more solid growth pattern. Eight patients presented with metastatic disease including all 5 with PBRM1 mutations. Despite the aggressive disease course seen in many of the patients in our series, 2 patients exhibited a dramatic response to immunotherapy. Our results support the existence of a distinct group of cases of renal cell carcinoma characterized by distinct although admittedly nonspecific morphology, an aggressive disease course, and NF2 mutations, often paired with the loss of chromosome 22.
Competing Interests: Conflicts of Interest and Source of Funding: The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article.
(Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)
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المشرفين على المادة: 0 (Biomarkers, Tumor)
0 (NF2 protein, human)
0 (Neurofibromin 2)
تواريخ الأحداث: Date Created: 20220116 Date Completed: 20220419 Latest Revision: 20230922
رمز التحديث: 20231215
DOI: 10.1097/PAS.0000000000001846
PMID: 35034039
قاعدة البيانات: MEDLINE
الوصف
تدمد:1532-0979
DOI:10.1097/PAS.0000000000001846