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

Abstract

Xp11 translocation renal cell carcinoma (RCC) is a specific type of renal cell carcinoma recently placed under the "MiT family translocation RCC" at the last 2013 ISUP Vancouver classification of renal neoplasia. This tumor contains variable proportions of clear cells and could easily mimic papillary RCC, clear cell type, and clear cell papillary RCC. Given the small number of published cytologic findings of this tumor, it could easily present as a diagnostic pitfall. We describe a case of a 23-year-old man with a history of prior nephrectomy who presented with multiple mediastinal lymphadenopathies on imaging surveillance follow-up. Fine-needle aspiration of the lymph node showed tumor cells with voluminous clear to eosinophilic cytoplasm, well-defined cell borders and hyperchromatic nuclei arranged in papillary architecture. Review of the prior nephrectomy specimen showed papillary cores surrounded by cells with voluminous clear to finely granular eosinophilic cytoplasm and distinct cell borders. Immunohistochemical stains performed on the nephrectomy specimen showed tumor positivity for CD10, E-cadherin, a-methylacyl coenzyme A racemase, and TFE3 supporting the diagnosis of Xp11 translocation renal cell carcinoma. Although this tumor was initially described predominantly in children, it could also occur in adults, as seen in this case. Familiarity with the cytologic findings of this tumor, use of immunohistochemical stains, or cytogenetic test to determine the type of gene fusion will be extremely useful in arriving at the correct diagnosis. Diagn. Cytopathol. 2017;45:456-462. © 2017 Wiley Periodicals, Inc.

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

“…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. It is noteworthy that, when performed, the melanocytic markers Melan A and HMB45, as well as cathepsin K, were negative . Most specific, TFE3 was positive in all cases tested, and molecular confirmation was obtained in 4 cases …”

“…It is noteworthy that, when performed, the melanocytic markers Melan A and HMB45, as well as cathepsin K, were negative . Most specific, TFE3 was positive in all cases tested, and molecular confirmation was obtained in 4 cases …”

Diagnostic utility of immunohistochemical analysis and Epstein–Barr virus‐encoded small RNAs in situ hybridisation of cell block sections obtained using fine‐needle aspiration in nasopharyngeal carcinoma with lymph node metastasis

“…Accordingly, EBERs play a helpful role in the diagnosis of NPC. Some of the histomorphological features of NPC15 can partially be observed in lymph node metastases, which serves as evidence in smears.The value of FNA in the diagnosis of lymph node metastases has been widely established in previous studies [18][19][20][21][22][23]. In our study, it was possible to perform a preliminary qualitative diagnosis in most cases of metastatic NPC on the basis of distinctly shaped cells, where a high sensitivity was achieved by observing FNA cell smears (86.8%).…”

“…The value of FNA in the diagnosis of lymph node metastases has been widely established in previous studies . In our study, it was possible to perform a preliminary qualitative diagnosis in most cases of metastatic NPC on the basis of distinctly shaped cells, where a high sensitivity was achieved by observing FNA cell smears (86.8%).…”

Clues to recognition of fumarate hydratase‐deficient renal cell carcinoma: Findings from cytologic and limited biopsy samples

“…We note that Xp11translocation RCCs often exhibit abundant, voluminous cytoplasm in cytologic samples. 18 Although decreased expression of pancytokeratins and melanocytic markers in translocation RCCs is characteristic and distinctive from FH-deficient RCCs (and other RCC types), 18,19 these features are neither sufficiently sensitive nor specific to establish reliably the diagnosis of translocation RCC. Because the available antibodies against transcription factor E3 (TFE3) and transcription factor EB (TFEB) often are technically challenging, contemporary workup emphasizes the use of break-apart fluorescence in situ hybridization for the TFE3 locus (or the TFEB locus for the less common t [6,11] translocation RCCs) as a definitive molecular test.…”