[801] Not All Xp11 Translocation Renal Cell Carcinomas (RCC) Are the Same: ASPL-TFE3 RCC Are More Likely To Present at Advanced Stage Than Are PRCC-TFE3 RCC.

Carla L Ellis, John N Eble, Andrea P Subhawong, Guido Martignoni, Marc Ladanyi, George J Netto, Pedram Argani. The Johns Hopkins Hospital, Baltimore, MD; Indiana University School of Medicine, Indianapolis; University of Verona, Italy; Memorial Sloan-Kettering Cancer Center, New York, NY

Background: Xp11 translocation RCC are a characterized by chromosome translocations involving Xp11, resulting in gene fusions involving the TFE3 transcription factor gene. The most common subtypes of Xp11 translocation RCC are the ASPL-TFE3 RCC, resulting from a t(X;17)(p11;q25), and the PRCC-TFE3 RCC, resulting from a t(X;1)(p11;q21). As most cytogenetically or molecularly confirmed cases have been described in case reports or small series, a formal clinical comparison of these two subtypes of Xp11 translocation RCC has not been performed.
Design: We report two novel cytogenetically confirmed Xp11 translocation RCC, one with an ASPL-TFE3 gene fusion and the other with a PRCC-TFE3 gene fusion. We review the literature for all published cases of ASPL-TFE3 RCC (32 cases, 16 publications) and PRCC-TFE3 RCC (34 cases, 16 publications) and contacted all corresponding authors to obtain or update published follow-up information.
Results: The novel ASPL-TFE3 RCC case is a 16 year old female who presented with distant metastasis and developed progressive disease after one year. The novel PRCC-TFE3 case is a 14 year old male who presented with a ruptured but localized 7cm neoplasm. Review of these cases and the composite literature revealed that 7/7 patients who presented with distant metastasis had ASPL-TFE3 RCC (p=0.03), and all these patients either died of disease or have progressive disease. Regional lymph nodes were involved by metastatic carcinoma in 18 of the 24 ASPL-TFE3 RCC in which nodes were resected, compared to 4 of 11 PRCC-TFE3 RCC (p=.057). However, no patient with ASPL-TFE3 RCC who presented with N1M0 disease developed recurrence at mean follow-up of 5 years. Two PRCC-TFE3 RCC recurred late (20 and 30 years, respectively).
Conclusions: ASPL-TFE3 RCC are more likely to present at advanced stage than are PRCC-TFE3 RCC. However, while systemic metastases portend a grim prognosis, regional lymph node involvement does not in short term follow-up. The potential for PRCC-TFE3 RCC to recur late warrants caution and long term follow-up. The clinical differences observed in the present study may reflect subtle functional differences between the ASPL-TFE3 and PRCC-TFE3 fusion proteins, of which further evidence may be the recently demonstrated difference in cathepsin-K expression between these two neoplasms.
Category: Genitourinary (including renal tumors)

Monday, February 28, 2011 9:30 AM

Poster Session I Stowell-Orbison/Surgical Pathology/Autopsy Awards Poster Session # 112, Monday Morning

 

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