Böbrek Tümörlerinde Yeni Önerilen Antiteler
Özet
Son yıllarda, kendine özgü morfolojik, immünohistokimyasal ve moleküler özellikler taşıyan bazı yeni renal epitelyal tümör antiteleri tanımlanmıştır. Bunlar arasında ters polariteli papiller renal neoplazm (PRNRP), tiroid benzeri folliküler renal hücreli karsinom (TLFRCC), bifazik hyalinizan psammomatöz renal hücreli karsinom (BHP RCC) ve follikülin-mutant renal epitelyal neoplazmlar bulunmaktadır. PRNRP, apikal yerleşimli çekirdekli eozinofilik hücrelerden oluşur, papiller mimari gösterir ve KRAS mutasyonu ile karakterizedir; Keratin 7 ve GATA3 pozitiftir. TLFRCC, tiroid folliküler tümörlerini andıran morfolojiye sahip olup PAX8, Keratin 7, KIT ve Cyclin D1 pozitifliği ile birlikte EWSR1::PATZ1 füzyonu gösterir. BHP RCC, bifazik hücre populasyonu, hyalinize stroma ve psammom cisimcikleri ile tanınır; NF2 gen mutasyonu ve Merlin ekspresyon kaybı taşır. FLCN-mutant tümörler ise tübülokistik veya solid-nodüler mimari, diffüz GPNMB pozitifliği ve FLCN gen mutasyonları (sporadik veya Birt–Hogg–Dubé sendromu ilişkili) ile karakterizedir. Bu yeni tanımlanan antiteler, renal neoplazilerin moleküler ve morfolojik çeşitliliğini genişletmiştir. Çoğu indolan seyirli olmakla birlikte, uzun dönem takip verileri sınırlıdır. Bu lezyonların tanınması, doğru tanı, aşırı tedaviden kaçınma ve gerekli olgularda genetik danışmanlık açısından önemlidir.
Referanslar
Conde-Ferreirós M, Domínguez-de Dios J, Juaneda-Magdalena L, Bellas-Pereira A, San Miguel Fraile MP, Peteiro Cancelo M, et al. Papillary renal cell neoplasm with reverse polarity: A new subtype of renal tumour with favorable prognosis. Actas Urol Esp (Engl Ed). 2022;46(10):600-5.
Al-Obaidy KI, Saleeb RM, Trpkov K, Williamson SR, Sangoi AR, Nassiri M, et al. Recurrent KRAS mutations are early events in the development of papillary renal neoplasm with reverse polarity. Mod Pathol. 2022;35(9):1279-86.
Kim B, Lee S, Moon KC. Papillary renal neoplasm with reverse polarity: a clinicopathologic study of 43 cases with a focus on the expression of KRAS signaling pathway downstream effectors. Hum Pathol. 2023;142:1-6.
Nova-Camacho LM, Martin-Arruti M, Díaz IR, Panizo-Santos Á. Papillary Renal Neoplasm With Reverse Polarity: A Clinical, Pathologic, and Molecular Study of 8 Renal Tumors From a Single Institution. Arch Pathol Lab Med. 2023;147(6):692-700.
Castillo VF, Trpkov K, Van der Kwast T, Rotondo F, Hamdani M, Saleeb R. Papillary renal neoplasm with reverse polarity is biologically and clinically distinct from eosinophilic papillary renal cell carcinoma. Pathol Int. 2024;74(4):222-6.
Nemours S, Armesto M, Arestín M, Manini C, Giustetto D, Sperga M, et al. Non-coding RNA and gene expression analyses of papillary renal neoplasm with reverse polarity (PRNRP) reveal distinct pathological mechanisms from other renal neoplasms. Pathology. 2024;56(4):493-503.
Al-Obaidy KI, Bridge JA, Cheng L, Sumegi J, Reuter VE, Benayed R, et al. EWSR1-PATZ1 fusion renal cell carcinoma: a recurrent gene fusion characterizing thyroid-like follicular renal cell carcinoma. Mod Pathol. 2021;34(10):1921-34.
Dawane R, Grindstaff A, Parwani AV, Brock T, White WM, Nodit L. Thyroid-like follicular carcinoma of the kidney: one case report and review of the literature. Am J Clin Pathol. 2015;144(5):796-804.
Eble JN, Delahunt B. Emerging entities in renal cell neoplasia: thyroid-like follicular renal cell carcinoma and multifocal oncocytoma-like tumours associated with oncocytosis. Pathology. 2018;50(1):24-36.
Jenkins TM, Rosenbaum J, Zhang PJ, Schwartz LE, Nayak A, Cooper K, et al. Thyroid-Like Follicular Carcinoma of the Kidney With Extensive Sarcomatoid Differentiation: A Case Report and Review of the Literature. Int J Surg Pathol. 2019;27(6):678-83.
Herlitz L, Hes O, Michal M, Tretiakova M, Reyes-Múgica M, Nguyen JK, et al. "Atrophic Kidney"-like Lesion: Clinicopathologic Series of 8 Cases Supporting a Benign Entity Distinct From Thyroid-like Follicular Carcinoma. Am J Surg Pathol. 2018;42(12):1585-95.
Argani P, Reuter VE, Eble JN, Vlatkovic L, Yaskiv O, Swanson D, et al. Biphasic Hyalinizing Psammomatous Renal Cell Carcinoma (BHP RCC): A Distinctive Neoplasm Associated With Somatic NF2 Mutations. Am J Surg Pathol. 2020;44(7):901-16.
Collins K, Hwang M, Antic T, Paintal A, Argani P, Matoso A, et al. Merlin immunohistochemistry is useful in diagnosis of tumours within the spectrum of biphasic hyalinizing psammomatous renal cell carcinoma. Histopathology. 2022;81(5):577-86.
Argani P, Rose G, Matoso A, Gagan J, Palsgrove DN. Biphasic Hyalinizing Psammomatous Renal Cell Carcinoma (BHP RCC) in a Child With Neurofibromatosis Type 2 Syndrome. Am J Surg Pathol. 2022;46(11):1595-8.
Argani P, Baraban E, Yaskiv O, Li H, Bhardwaj S, Dombrowski K, Lotan TL, Zou YS, Patel SH, Katz B, Cai Q, Mehra R, Barker N, Dudley J, Palsgrove DN. Clinically Sporadic Folliculin -mutated Renal Epithelial Neoplasms Represent a Mixture of True Somatic Folliculin -mutated and Occult Birt-Hogg-Dubé Syndrome-associated Cases : Morphologic and Molecular Overlap With TSC/MTOR -mutated Eosinophilic Renal Neoplasms and MiT Family Translocation Renal Cell Carcinoma. Am J Surg Pathol. 2025 May 5;49(9):859-872.
Schmidt LS, Linehan WM. Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. Nat Rev Urol. 2015;12:558–569.
Napolitano G, Di Malta C, Esposito A, et al. A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome. Nature. 2020;585:597–602.
