Pagarigan Allison Kaye Lombridas, Reyes-Murillo Pamela Delos, Carbonell Dennis Jose Sienes
Department of Pathology and Laboratory Medicine, National Kidney and Transplant Institute, East Avenue, Barangay Central, Quezon City, Philippines.
J Kidney Cancer VHL. 2024 Aug 24;11(3):40-44. doi: 10.15586/jkcvhl.v11i3.338. eCollection 2024.
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 immunohistochemical 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.
本报告叙述了一名儿科女性患者的诊断检查过程，该患者因腹部影像学检查发现巨大肾肿块继发血尿。进行了组织学评估及后续免疫组化研究。TFE3和α-甲基酰基辅酶A消旋酶的免疫组化表达强烈且明确，碳酸酐酶IX呈相应阴性，同时伴有高度独特的临床、放射学、大体和显微镜检查结果，确诊为TFE3基因重排的肾细胞癌——菲律宾首例报告病例。该病例凸显了在资源匮乏地区可靠、经济且可及的免疫组化研究的重要作用和重大诊断意义，在这些地区，评估罕见疾病的分子检测方法基本无法获得。认识儿童及青少年肾恶性肿瘤独特的形态学、免疫组化和细胞遗传学特征，有助于及时对这种侵袭性疾病采取治疗干预措施。
