Cytologic Features of Renal Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions: A Case Report with Voided and Catheterized Urine Cytology and a Literature Review

Abstract

Background: Renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions are rare subtypes of renal neoplasm that predominantly occur in younger individuals. There are very few reports describing the cytologic features of these tumors. Case: A 27-year-old man presented with hematuria and was found to have a mass in the lower part of the right kidney. Cytology of catheterized urine obtained from the right renal pelvis showed clusters of cells with abundant clear or eosinophilic granular cytoplasm, large round nuclei and prominent nucleoli. Papillary clusters containing thin fibrous stroma were occasionally seen. Voided urine cytology showed similar cell clusters but degeneration made the features obscure. Nephroureterectomy revealed a renal tumor showing a mixed papillary and nested architecture. The diagnosis was confirmed by immunohistochemistry and fluorescence in situ hybridization. Conclusion: The present case indicates that the characteristic features of these tumor subtypes can be retained in urine cytology. Cytology may be enough to suspect these tumors as part of the differential diagnosis when the patient's age and imaging findings are taken into account and may facilitate further studies for a definitive diagnosis.

New entities, new technologies, new findings: A review of the cytologic features of recently established subtypes of renal cell carcinoma

“…Ancillary studies performed on CNBs and cell blocks of FNA and urine specimens revealed that the tumors were negative or focally positive for pancytokeratin, negative for EMA, but consistently positive for CD10, indicating that these stains are very useful screening tests for translocation carcinomas. CAIX evaluation, which was performed in only one tumor, was negative . In contrast, AMACR was positive in all tumors tested and although, by itself, may have raised the possibility of a PRCC, coupled with negativity or very focal positivity for CK7, was unusual.…”

“…Several reports have been published describing the cytologic findings of MiT translocation RCC, and all are instances of Xp11 translocation RCC. They included evaluations of touch imprints of image‐guided CNBs of renal masses; FNAs of a renal mass, lung, and mediastinal metastases; and urine cytology . The patients were ages 1 to 58 years and had an equal distribution according to sex.…”

“…An analysis of voided or catheterized urine also was very interesting, with cytospin slides revealing variably sized papillary clusters along with large cells that had clear‐to‐eosinophilic cytoplasm. Despite the presence of papillary clusters, the cytologic interpretations did not favor urothelial carcinoma, which was excluded with an UroVysion test in one instance.…”

Cyto‐histological correlation of Xp11.2 translocation/TFE3 gene fusion associated renal cell carcinoma: Report of a case with review of literature

“…To the best of our knowledge there are only five case reports that describe the cytologic features of this group of RCC (Table ). Two of them were fine‐needle aspirations, one was urine cytology, and two others were touch imprint of resected or biopsies specimens . Although the cytologic features are overlapping with papillary RCC and clear cell carcinoma, presence of psammoma bodies and hyaline globules/nodules should alert the cytopathologists to the possibility of MiTF family translocation RCC thereby prompting them to initiate ancillary studies.…”

Fine‐needle aspiration findings of Xp11 translocation renal cell carcinoma metastatic to a hilar lymph node

“…[5][6][7][8][9][10] Given the paucity of the cytologic findings in the literature, we describe the fine-needle aspiration (FNA) findings including a review of literature. [5][6][7][8][9][10] Given the paucity of the cytologic findings in the literature, we describe the fine-needle aspiration (FNA) findings including a review of literature.…”