Clear Cell Sarcoma of the Kidney Clinical Presentation

Updated: Jul 06, 2018
  • Author: Nita Seibel, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Presentation

History

Manifestations in patients with clear cell sarcoma of the kidney (CCSK) are similar to those in patients with Wilms tumor. Patients present with an abdominal mass (see the image below), which is usually identified by a caregiver or family relative who has not seen the child in some time.

Large right-sided heterogeneous renal mass in a 9- Large right-sided heterogeneous renal mass in a 9-month-old infant. Biopsy findings were consistent with clear cell sarcoma of the kidney.

Often, abdominal swelling or the presence of an abdominal mass is noticed by a parent while bathing or dressing the child. Abdominal pain, gross hematuria, fever, and hypertension are other frequent findings.

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Physical

Physical findings include a large palpable unilateral abdominal mass. Patients may have accompanying findings, such as hypertension and/or hematuria (gross or microscopic), depending on the size of the tumor. Extrarenal tumors with histologic features identical to those of clear cell sarcoma of the kidney have been reported.

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Causes

The histogenesis of clear cell sarcoma of the kidney is unclear and appears to be unrelated to Wilms tumor.

Genomics of Clear Cell Sarcoma of the Kidney

Several biological features of clear cell sarcoma of the kidney have been described.  They include:

  • Internal tandem duplications in exon 15 of the BCOR gene (BCL6 corepressor) were reported in 100% (20 of 20 cases) of clear cell sarcoma of the kidney cases but in none of the other pediatric renal tumors evaluated. [13] Other reports have confirmed the finding of BCOR internal tandem duplications in clear cell sarcoma of the kidney. [14, 15, 16] Hence, BCOR internal tandem duplications appear to play a key role in the tumorigenesis of clear cell sarcoma of the kidney, and their identification should aid in the differential diagnosis of renal tumors. [13]
  • The YWHAE-NUTM2 fusion (involving either NUTM2B or NUTM2E) resulting from t(10;17) was reported in 12% of cases of clear cell sarcoma of the kidney. [17] The presence of the YWHAE-NUTM2 fusion appears to be mutually exclusive with the presence of BCOR internal tandem duplications; this observation is based on a study of 22 cases of clear cell sarcoma of the kidney that included two cases with the YWHAE-NUTM2 fusion and 20 cases with BCOR internal tandem duplications. [14] The gene expression profiles for cases with the YWHAE-NUTM2 fusion were distinctive from those with BCOR internal tandem duplications.

    See the list below:

    • The t(10;17)q22;p13) results in an in-frame fusion of the genes YWHA (encoding14-3-3ɛ) and NUTM2 as fusion partners in the resultant in-frame transcript. [17]   This fusion protein confers migratory advantage on cells through the up-regulation of EGFR, IGF1R or PDGFα.  By blocking these pathways using neutralizing antibodies, the migratory advantage conferred by the transcript was abrogated.  This holds potential for novel therapeutic approaches in CCSK. [18]
  • Evaluation of 13 clear cell sarcoma of the kidney tumors for changes in chromosome copy number, mutations, and rearrangements found a single case with the YWHAE-NUTM2 fusion and 12 cases with BCOR internal tandem duplications. [16, 19]   No other recurrent segmental chromosomal copy number changes or somatic variants (single nucleotide or small insertion/deletion) were identified, providing further support for the role of BCOR internal tandem duplication as the primary oncogenic driver for clear cell sarcoma of the kidney. [19]
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