Imprint Cytologic Features in Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion in an Adult

Yamaguchi, Tadanori; Imamura, Yoshiaki; Hes, Ondřej; Kawada, Takako; Nakayama, Keizou

doi:10.1159/000325412

Cited by 21 publications

(30 citation statements)

References 16 publications

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“…To our knowledge, only 4 cases have been documented previously (table 2) [4,5,6,7]. Two of them were fine needle aspiration specimens of the tumors (one of which was that of a metastatic lesion) [4,6], while the others were touch imprint smears of resected or biopsied specimens [5,7].…”

Section: Discussionmentioning

confidence: 99%

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

Kuwamoto¹,

Murai²,

Endo³

et al. 2014

Acta Cytologica

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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.

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Section: Discussionmentioning

confidence: 99%

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

Kuwamoto¹,

Murai²,

Endo³

et al. 2014

Acta Cytologica

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“…Although normal tissues and other malignancies were reported to have no detectable level of TFE3 protein by immunohistochemistry [5] , native TFE3 protein is known to be expressed ubiquitously. Accordingly, an evident positive reaction for TFE3 protein at an intensity level above 2+ and widespread distribution should be confirmed by immunohistochemical staining of ASPS as a positive control for TFE3 protein [6] .…”

Section: Xp112 Translocation Rcc Was Recognized In the 2004mentioning

confidence: 89%

Long-Term Survival in a Patient with Node-Positive Adult-Onset Xp11.2 Translocation Renal Cell Carcinoma

Aoyagi

Shinohara²,

Kubota-Chikai³

et al. 2011

Urol Int

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Adult-onset Xp11.2 translocation renal cell carcinoma is a rare malignancy that has an aggressive clinical course and poor prognosis. The reasons for this include the fact that most patients have an advanced clinical stage at diagnosis and also that there is a lack of effective systemic therapy. We herein present the case of a 32-year-old woman suffering from node-positive Xp11.2 translocation renal cell carcinoma who underwent radical nephrectomy with an extensive retroperitoneal lymph node dissection, followed by two times of surgical resection for recurrent nodal disease. The patient has experienced no recurrent disease 4.5 years after the last operation and remains free of disease. Surgical approach to recurrent disease, if the recurrent site can be judged to be limited, might be one of the feasible treatment options in patients with Xp11.2 translocation renal cell carcinoma.

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“…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.…”

Section: Discussionmentioning

confidence: 99%

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

Manucha

Sessums

Lewin

et al. 2017

Diagnostic Cytopathology

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The MiT family translocation renal cell carcinomas (RCCs) are relatively rare in comparison to the conventional RCC. The cytologic features overlap with conventional clear cell RCC and papillary RCCs, thereby making the diagnosis extremely challenging. Here, we describe a case of TFE3 translocation associated RCC in a 58-year-old patient, with emphasis on cytomorphologic features and clues toward this diagnostic entity. Correlating the cytohistologic findings and review of touch imprints revealed that presence of hyaline nodules resembling leisegang rings and psammoma bodies in cytologic smears from kidney tumors serve as an important clue in raising a suspicion for the diagnosis of MiT family translocation RCCs.

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Imprint Cytologic Features in Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion in an Adult

Cited by 21 publications

References 16 publications

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

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

Long-Term Survival in a Patient with Node-Positive Adult-Onset Xp11.2 Translocation Renal Cell Carcinoma

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

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