Department of Pathology and Laboratory Medicine, National Kidney and Transplant Institute, East Avenue, Barangay Central, Quezon City, Philippines

Department of Pathology and Laboratory Medicine, National Kidney and Transplant Institute, East Avenue, Barangay Central, Quezon City, Philippines

Department of Pathology and Laboratory Medicine, National Kidney and Transplant Institute, East Avenue, Barangay Central, Quezon City, Philippines

kidney tumor, renal cell carcinoma, TFE3-rearranged, Xp11.2 translocation, immunohistochemistry

This report recounts the diagnostic workup of a pediatric female who presented with hematuria secondary to a large renal mass visualized on abdominal imaging. Histologic assessment and subsequent immunohistochemistry studies were performed. Intense, unequivocal immunohisto-chemical expression of TFE3 and alpha-methylacyl-CoA-racemase with corresponding negativity for carbonic anhydrase IX, along with highly distinctive clinical, radiologic, gross, and microscopic findings confirmed the diagnosis of a renal cell carcinoma with TFE3 gene rearrangement – the first ever reported case in the Philippines. This case highlights the vital role and significant diagnostic impact of reliable, affordable and accessible immunohistochemistry studies in low-resource settings where molecular modalities for evaluating rare diseases are largely unavailable. Recognition of distinctive morphologic, immunohistochemical, and cytogenetic features in childhood and adolescent renal malignancies allows for the timely institution of therapeutic interventions for this aggressive entity.

1. Argani P, Martignoni G, Mehra R, Yu W. TFE3-rearranged renal cell carcinomas. In: Moch H, editors. Urinary and Male Genital Tumours. 5th ed. Lyon, France: World Health Organization International Agency for Research on Cancer. 2022. pp. 72–73.
2. Trpkov K, Hes O, Williamson SR, Adeniran AJ, Agaimy A, Alaghehbandan R, et al. New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia. Mod Pathol. 2021;34(7):1392–1424. https://doi.org/10.1038/s41379-021-00779-w
3. Akgul M, Williamson SR, Ertoy D, Argani P, Gupta S, Caliò A, et al. Diagnostic approach in TFE3-rearranged renal cell carcinoma: A multi-institutional international survey. J Clin Pathol. 2021;74(5):291–299. https://doi.org/10.1136/jclinpath-2020-207372
4. Caliò A, Marletta S, Brunelli M, Pedron S, Portillo SC, Segala D, et al. TFE3 and TFEB-rearranged renal cell carcinomas: An immunohistochemical panel to differentiate from common renal cell neoplasms. Virchows Arch. 2022;481:877–891. https://doi.org/10.1007/s00428-022-03380-x
5. Sharain RF, Gown AM, Greipp PT and Folpe AL. Immunohistochemistry for TFE3 lacks specificity and sensitivity in the diagnosis of TFE3-rearranged neoplasms: A comparative, 2-laboratory study. Hum Pathol. 2019;87:65–74. https://doi.org/10.1016/j.humpath.2019.02.008
6. Gomolčáková J, Brezinová B, Dubovan P, Jurišová S, Rejlekova K, Chovanec M, et al. Targeted therapy in Xp11 translocation renal cell carcinoma. Klin Onkol. 2021;34(2):137–140. https://doi.org/10.48095/ccko2021137
7. Murakami S, Nagawa K, Inui T, Yamamoto A, Suzuki M, Koga F, et al. Case reports of TFE3-rearranged renal cell carcinoma: FDG-PET uptake might help diagnosis. J Kidney Cancer VHL. 2023;10(3):61–68. https://doi.org/10.15586/jkcvhl.v10i3.266
8. Lin J, Tang Z, Zhang C, Dong W, Liu Y, Huang H, et al. TFE3 gene rearrangement and protein expression contribute to a poor prognosis of renal cell carcinoma. Heliyon. 2023;9(5):e16076. https://doi.org/10.1016/j.heliyon.2023.e16076