Amelia Nicoleta Petrescu1*, Oana Neagu2, Gabriela Mihaela Berdan1, Alin Horaţiu Mureșan3, Silviu Andrei4, Daniel Damian4, Bogdan Braticevici4,5, Diana Alexandra Costache6 and Viorel Jinga4,5
1Department of Pathology, “Prof. Dr. Th. Burghele” Clinical Hospital, Romania
2Department of Pathology, Emergency University Hospital Bucharest, Romania
3OncoTeam Diagnostic, Romania
4Department of Urology, “Prof. Dr. Th. Burghele” Clinical Hospital, Romania
5“Carol Davila” University of Medicine and Pharmacy, Romania
6Department of Pathology, Colentina University Hospital, Romania
Xp11.2 translocation cell carcinoma represents a particular neoplasia with advanced stage at diagnosis, complex morphology and unpredictable progression. We describe five different scenarios involving patients with ages ranging from 7 to 79 years old, different tumor morphology and therapy management, focusing on prevalent features of this cancer. Diagnosis was assessed using the validated methods: Immunohistochemistry for TFE3 and break-apart FISH assay. Four out of five cases were T3 stage at presentation, with high grade nuclei on microscopy. All tumors displayed a papillary, nested and solid mixed architecture, while 3/5 associated psammoma bodies and hyaline nodules. One case showed rhabdoid differentiation. Prognosis was independent of tumor size or nuclear grade. Three patients are currently free of disease from their last periodical examination. The younger patient had an adrenal recurrence two years following the diagnosis. Unfortunately, one patient succumbed to cancer within 14 months. Adjuvant treatment didn’t prove significant efficacy.
Kidney; Xp11.2 translocation carcinoma; FISH assay; TFE3 marker
Petrescu AN, Neagu O, Berdan GM, Mureșan AH, Andrei S, Damian D, et al. Clinical and Morphological Heterogeneity of the Xp11.2 Translocation Renal Cell Carcinoma. Clin Oncol. 2021;6:1772..