Xp11.2 translocation renal cell carcinoma with TFE3 gene fusion in the elderly: case report and literature review
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CASE REPORT
Xp11.2 translocation renal cell carcinoma with TFE3 gene fusion in the elderly: case report and literature review Toshihiko Masago1,5 · Susumu Kobayakawa2 · Yuu Ohtani3 · Kenjirou Taniguchi3 · Takuji Naka3 · Naoto Kuroda4 · Chihiro Takahashi1 · Tadahiro Isoyama1 · Takehiro Sejima5 Received: 23 March 2020 / Accepted: 26 June 2020 © The Japan Society of Clinical Oncology 2020
Abstract A 68-year-old man was followed up with chronic kidney disease. Follow-up CT incidentally detected a tumor at the left kidney and multiple small nodular shadows in the lungs bilaterally. The patient underwent needle biopsy and was diagnosed with Xp11.2 translocation renal cell carcinoma (RCC) pathologically. Hence, laparoscopic nephrectomy was performed. Fluorescence in situ hybridization analysis revealed a break-apart of the transcription factor E3 (TFE3) genes in the left tumor. After 2 months postoperatively, nivolumab and ipilimumab were administered thrice intravenously, considering the intermediate risk by the IMDC risk classification. However, pleural effusion occurred but was removed adequately. Lung metastasis decreased, but new metastasis occurred at the left iliopsoas muscle. Target therapy was performed with axitinib. Unfortunately, he died 6 months later postoperatively. These tumors commonly occur in children than in adults, and very rare in elderly patients. Xp11.2 translocation RCC in the elderly has a poorer prognosis than that in children. To date, no effective treatment for Xp11.2 translocation RCC has been established. Keywords Xp11.2 translocational renal cell carcinoma · Fluorescence in situ hybridization
Introduction Xp11.2 translocation renal cell carcinoma (RCC) represents approximately 1% of RCC [1]. This type of RCC is generally diagnosed in pediatric RCCs. Cases of Xp11.2 translocation RCC in adults are rare and may have a poorer prognosis than in children [2]. Regarding its development mechanism, Xp11.2 breakpoints and several gene fusions clearly result in the overexpression of TFE3 proteins in RCC [3]. Recently, at least six various partner genes have been found. Alveolar soft part sarcoma critical region 1 (ASPSCR1) * Toshihiko Masago [email protected] 1
Division of Urology, Yonago Medical Center, Tottori, Japan
2
Division of Clinical Laboratory, Yonago Medical Center, Tottori, Japan
3
Division of Surgery, Yonago Medical Center, Tottori, Japan
4
Division of Pathology, Japanese Red Cross Kochi Hospital, Kochi, Japan
5
Division of Urology, Matsue City Hospital, 32‑1 Noshira, Matsue, Shimane 690‑8509, Japan
with der(17)t(X;17)(p11.2;q25) is a common fusion partner gene. Other common fusion genes are alveolar soft part sarcoma locus (ASPL) on 17q25 and papillary renal cell carcinoma-TFE3 (PRCC-TFE3), t(X;1)(p11.2;q21.2) and PTB-associated splicing factor-TFE3 (PSF-TFE3), t(X;1) (p11.2;p34) and clathrin heavy chain-TFE3 (CLTC-TFE3), (X;17)(p11.2;q23) and NonO-TFE3 inv.(X), (p11.2;q12) [4–7]. We present an extremely rare case of Xp11.2 translocation RCC with TFE3 gene fus
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