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  • Xp11 translocation renal cell carcinoma with morphological features mimicking multilocular cystic renal neoplasm of low malignant potential: a series of six cases with molecular analysis

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Original research
Xp11 translocation renal cell carcinoma with morphological features mimicking multilocular cystic renal neoplasm of low malignant potential: a series of six cases with molecular analysis
  1. Yankun Song1,
  2. Xiaoxue Yin1,
  3. Qiuyuan Xia2,
  4. Linmao Zheng1,
  5. Jin Yao3,
  6. Hao Zeng4,
  7. Ling Nie1,
  8. Jing Gong1,
  9. Qiao Zhou1,
  10. Ni Chen1
  1. 1 Pathology, West China Hospital, Sichuan University, Chengdu, China
  2. 2 Pathology, Nanjing Jinling Hospital, Nanjing, China
  3. 3 Radiology, West China Hospital, Sichuan University, Chengdu, China
  4. 4 Urology, West China Hospital, Sichuan University, Chengdu, China
  1. Correspondence to Dr Ni Chen, Pathology, West China Hospital, West China Medical School, Sichuan University, Chengdu 610041, China; chenni1{at}163.com

Abstract

Aims Xp11 translocation renal cell carcinoma (RCC) is a distinctive subtype of RCC with TFE3 (Transcription Factor Binding to IGHM Enhancer 3) gene rearrangement. The gross features in most Xp11 translocation RCCs closely resemble clear cell RCCs. In this study, we report six cases of Xp11 translocation RCCs with a unique multicystic architecture, reminiscent of multilocular cystic renal cell neoplasm of low malignant potential (MCRN-LMP).

Methods and results Microscopically, the renal mass was well circumscribed with multilocular cystic architecture. The cyst walls and septa were mostly lined by a single layer of cells with clear cytoplasm and low-grade nuclei, reminiscent of MCRN-LMP. Psammoma bodies were detected in four cases. One particular patient was misdiagnosed with benign cysts in local hospitals and led to second operation. Tumour cells were settled according to the track of the first surgical procedure. TFE3 fluorescence in situ hybridization (FISH) assay confirmed the diagnosis of Xp11 translocation RCCs. FISH and RNA sequencing analyses confirmed MED15-TFE3 gene fusion in all six cases. Respective patients were alive, without any recent evidence of disease recurrence and/or metastasis.

Conclusions Here, we introduce a relatively inertia-variant of Xp11 translocation RCC which mimics MCRN-LMP. The distinctive morphological condition is linked to MED15-TFE3 gene fusion. In fact, renal neoplasms with morphological features of MCRN-LMP, especially those containing psammoma bodies, should be routinely evaluated for evidence of TFE3 gene rearrangements.

  • kidney neoplasms
  • morphological and microscopic findings
  • genetics

https://doi.org/10.1136/jclinpath-2020-206681

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    Footnotes

    • YS and XY are joint first authors.

    • Handling editor Runjan Chetty.

    • Contributors YS and XY collected the patients and did the TFE3 FISH and wrote the paper; QX performed the TFE3-MED15 fusion FISH; JY supplied the radiology image; LZ and LN did the immunohistochemistry; HZ and JG organised the clinical data; QZ and NC organised and modified the paper.

    • Funding Supported by grants from the National Natural Science Foundation of China (NSFC 81872107, 81872108).

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Ethics approval This study was approved by the Institute Research Ethics Committee of West China Hospital.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data availability statement All data relevant to the study are available from the surgical pathology archival files of West China Hospital from 2014-2019. This study is approved by the Institute Research Ethics Committee of West China Hospital.