Renal Rabdoid Tümör
Özet
Renal rabdoid tümör (RRT), 22q11.23 kromozomundaki SMARCB1 (INI1) geninin biallelik inaktivasyonu sonucu gelişen, SMARCB1/INI1 protein ekspresyonunun kaybı ile karakterli, yüksek derecede agresif pediatrik bir neoplazmdır. Farklı anatomik bölgelerde görülebilen malign rabdoid tümör (MRT)’ün renal karşılığı olarak kabul edilir. Nadiren SMARCA4 mutasyonları da izlenebilir ve bu durum rabdoid tümör yatkınlık sendromu ile ilişkilidir. RRT, pediatrik böbrek tümörlerinin %0,9–2’sini oluşturur ve çoğunlukla 3 yaş altı bebeklerde görülür; erkeklerde daha sıktır (E:K = 1,5:1). Klinik olarak abdominal kitle, hematüri, anemi, hiperkalsemi ve hipertansiyon ile seyredebilir. Tanı anında sıklıkla metastaz vardır; en sık santral sinir sistemi, akciğer, karaciğer ve lenf nodları tutulur. Histolojik olarak, ekzantrik nükleuslu, belirgin nükleollü ve eozinofilik sitoplazmik inklüzyonlar içeren poligonal rabdoid hücrelerden oluşur. Nekroz, hemoraji ve yüksek mitotik aktivite sıktır. İmmünohistokimyasal olarak INI1 kaybı tanısaldır; EMA, keratin, vimentin, desmin ve SMA değişken pozitiflik gösterir, WT1, PAX8, BCOR ve CA9 negatiftir. Prognoz kötüdür; 5 yıllık sağkalım oranı %15–36 arasındadır. Tedavi, cerrahi, kemoterapi ve radyoterapi kombinasyonunu içerir ancak özellikle ileri evre veya metastatik olgularda sonuçlar sınırlıdır.
Referanslar
WHO Classification of Tumours Editorial Board. Urinary and Male Genital Tumours [Internet].Lyon(France): International Agency for Research on Cancer. Available from: Https://Tumourclassification.Iarc.Who.Int/Chapters/36. Vol 8. 5th ed.; 2022.
Hollmann TJ, Hornick JL. INI1-Deficient Tumors. Am J Surg Pathol. 2011;35(10):e47-e63. doi:10.1097/PAS.0b013e31822b325b
Pawel BR. SMARCB1 -deficient Tumors of Childhood: A Practical Guide. Pediatr Dev Pathol. 2018;21(1):6-28. doi:10.1177/1093526617749671
Beckwith JB, Palmer NF. Histopathology and prognosis of Wilms tumor Results from the first national wilms’ tumor study. Cancer. 1978;41(5):1937-1948. doi:10.1002/1097-0142(197805)41:5<1937::AID-CNCR2820410538>3.0.CO;2-U
Haas JE, Palmer NF, Weinberg AG, Beckwith JB. Ultrastructure of malignant rhabdoid tumor of the kidney. A distinctive renal tumor of children. Hum Pathol. 1981;12(7):646-657. doi:10.1016/S0046-8177(81)80050-0
Li J, Zhang W, Hu H, et al. Case Analysis of 14 Children with Malignant Rhabdoid Tumor of the Kidney. Cancer Manag Res. 2021;Volume 13:4865-4872. doi:10.2147/CMAR.S309274
Roberts C, Biegel J. The role of SMARCB1/INI1 in the development of rhabdoid tumors. Cancer Biol Ther. 2009;8(5):412-416. doi:10.4161/cbt.8.5.8019
Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA. Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer. 2011;56(1):7-15. doi:10.1002/pbc.22831
Schneppenheim R, Frühwald MC, Gesk S, et al. Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome. Am J Hum Genet. 2010;86(2):279-284. doi:10.1016/j.ajhg.2010.01.013
Hasselblatt M, Gesk S, Oyen F, et al. Nonsense Mutation and Inactivation of SMARCA4 (BRG1) in an Atypical Teratoid/Rhabdoid Tumor Showing Retained SMARCB1 (INI1) Expression. Am J Surg Pathol. 2011;35(6):933-935. doi:10.1097/PAS.0b013e3182196a39
Zhanghuang C, Zhang Z, Zeng L, et al. Clinical and prognostic analysis of 42 children with malignant rhabdoid tumor of the kidney: a 7-year retrospective multi-center study. BMC Pediatr. 2022;22(1):591. doi:10.1186/s12887-022-03643-1
Kerper AL, Clarke-Brodber A-L, Gupta S, et al. Malignant rhabdoid tumor: Cyto-histologic correlation and immunohistochemical characterization of a rare pediatric malignancy and its differential diagnoses. Ann Diagn Pathol. 2022;60(July):152014. doi:10.1016/j.anndiagpath.2022.152014
Weeks DA, Beckwith JB, Mierau GW, Luckey DW. Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms’ Tumor Study Pathology Center. Am J Surg Pathol. 1989;13(6):439-458. http://www.ncbi.nlm.nih.gov/pubmed/2543225
Morgenstern DA, Gibson S, Brown T, Sebire NJ, Anderson J. Clinical and pathological features of paediatric malignant rhabdoid tumours. Pediatr Blood Cancer. 2010;54(1):29-34. doi:10.1002/pbc.22231
Stanescu AL, Acharya PT, Lee EY, Phillips GS. Pediatric Renal Neoplasms: Magn Reson Imaging Clin N Am. 2019;27(2):279-290. doi:10.1016/j.mric.2019.01.006
Papke DJ. Mesenchymal Neoplasms of the Kidney and Perinephric Soft Tissue. Surg Pathol Clin. 2025;18(1):209-227. doi:10.1016/j.path.2024.08.006
Xie S, Fang Y, Yang Y, et al. Extracranial malignant rhabdoid tumors in children: high mortality even with the help of an aggressive clinical approach. Eur J Pediatr. 2023;183(2):557-567. doi:10.1007/s00431-023-05345-x
Salzillo C, Cazzato G, Serio G, Marzullo A. Paediatric Renal Tumors: A State-of-the-Art Review. Curr Oncol Rep. 2025;27(3):211-224. doi:10.1007/s11912-025-01644-8
van den Heuvel‐Eibrink MM, van Tinteren H, Rehorst H, et al. Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: A report of the SIOP renal tumour study group. Pediatr Blood Cancer. 2011;56(5):733-737. doi:10.1002/pbc.22922
Geller JI, Renfro LA, Grundy PE, et al. Rhabdoid Tumor of the Kidney and Soft Tissues: Results from National Wilms Tumor Study‐5 and Children’s Oncology Group Study AREN0321. Pediatr Blood Cancer. 2025;72(3):7641-7645. doi:10.1002/pbc.31490
Erlandson RA, Woodruff JM. Role of electron microscopy in the evaluation of soft tissue neoplasms, with emphasis on spindle cell and pleomorphic tumors. Hum Pathol. 1998;29(12):1372-1381. doi:10.1016/S0046-8177(98)90005-3
Geller JI, Roth JJ, Biegel JA. Biology and treatment of rhabdoid tumor. Crit Rev Oncog. 2015;20(3-4):199-216. doi:10.1615/CritRevOncog.2015013566
