Renal cell carcinoma with an Xp11.2 translocation in a 16-year-old girl: A case report with cytological features

Abstract

We report a case of a 16-year-old girl with a left renal tumor discovered by her family practitioner. On physical examination the patient had a painless abdominal mass, located in the upper medium portion of the abdomen on the left side with a voussure of the abdominal wall. Ultrasound and abdominal pelvic CAT scan revealed a large heterogeneous mass with calcifications in the inferior portion of the left kidney. We made touch-imprint cytological preparations of the biopsy fragments, obtained under ultrasound guidance. Cytological analysis revealed highly cellular smears with malignant cells arranged in large clusters or rarely isolated, sometimes surrounding hyaline nodules with numerous psammoma bodies. After May-Grünwald-Giemsa staining, cells displayed moderately irregular nuclei with an abundant and pale basophilic cytoplasm with well-defined borders and a finely granular texture. The diagnosis of a special type of renal cell carcinoma was suspected, and was then confirmed after examination of the biopsy sample and the corresponding surgical specimen. The histomorphologic features were those of a renal cell carcinoma associated with an Xp11.2 translocation. Immunohistochemistry revealed this translocation by showing nuclear positivity in tumor cells for an antibody raised against the TFE3 protein. The clinical outcome was marked several months later by metastases in lymph nodes, bone, lung, and adrenal gland as well as a local recurrence.

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

“…An admixture of tumor cells with granular cytoplasm was often seen. These findings are to some extent consistent with those described in the report of Mansouri et al 14 Based on these cytologic findings, a differential diagnosis from …”

“…14,15 One case is that of a 16-yearold girl, and the other of a 57-year-old woman with pulmonary metastases subjected to cytologic examination. In this case, the distinctive cytologic features were the appearance of variously sized papillary-like clusters, and the presence in the large clusters of fibrous vascular stalks.…”

Cytopathology of alveolar soft part sarcoma

“…Nonetheless, a distinction between the 2 may be possible by cytomorphology alone. Of the 2 case reports that have described the cytologic morphology of this unusual renal neoplasm, 1 demonstrated clear cell change with numerous psammoma bodies and hyaline globules on tissue imprints, 23 whereas the other exhibited follicular and papillary structures with globules reminiscent of adenoid cystic carcinoma in an aspirate from a pulmonary metastasis. 24 Neither of these features is typical of ASPS cytology.…”

“…However, others have documented its utility in cell block and histologic sections. 3,23,24 Positive nuclear staining with TFE3 is specific for ASPS when dealing with a soft tissue sarcoma, but it must be remembered that a specific subtype of renal carcinoma-Xp11.2 renal carcinoma-also expresses this nuclear marker. Because patients who have Xp11.2 renal carcinoma (primarily children) share an overlapping age group with ASPS, possible metastases from this neoplasm must be considered whenever positive TFE3 staining occurs.…”

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

“…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].…”