Kalita Pranjal, Dey Biswajit, Saurabh Animesh, Chishti Sheikh F
Pathology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences (NEIGRIHMS), Shillong, IND.
Cureus. 2023 Apr 3;15(4):e37072. doi: 10.7759/cureus.37072. eCollection 2023 Apr.
Translocation-associated renal cell carcinoma (TRCC) is a group of under-recognized malignant renal neoplasms owing to the unavailability of ancillary diagnostic tools and considering the fact that these tumors may histomorphologically mimic a heterogeneous group of neoplasms ranging from benign to malignant ones. Xp11.2 translocation-associated renal cell carcinoma is a disease of the young with a relatively less known prognosis owing to the rarity of such reported neoplasms. The histological appearance of bulbous tumor cells with abundant, vacuolated cytoplasm and the presence of psammomatoid bodies are clues to the diagnosis but are not entirely specific. The immunohistochemistry (IHC) finding of transcription factor E3 (TFE3) positivity is an important pointer, but the demonstration of Xp11.2 translocation by fluorescence in situ hybridization (FISH) serves as the confirmatory test. In our case report, we highlight the fact that a combined approach involving light microscopy, immunohistochemistry, and fluorescence in situ hybridization is the key to its diagnosis.
易位相关性肾细胞癌（TRCC）是一组未被充分认识的恶性肾肿瘤，这是由于缺乏辅助诊断工具，并且考虑到这些肿瘤在组织形态学上可能模仿从良性到恶性的多种不同类型肿瘤。Xp11.2易位相关性肾细胞癌是一种好发于年轻人的疾病，由于此类报道的肿瘤罕见，其预后相对鲜为人知。肿瘤细胞呈球状、胞质丰富且有空泡，以及存在砂粒体，这些组织学表现是诊断的线索，但并非完全具有特异性。转录因子E3（TFE3）阳性的免疫组化（IHC）结果是一个重要指标，但通过荧光原位杂交（FISH）证实Xp11.2易位才是确诊试验。在我们的病例报告中，我们强调了一个事实，即联合应用光学显微镜检查、免疫组化和荧光原位杂交是其诊断的关键。
