Clear cell sarcoma of the kidney with calcification and a novel chromosomal abnormality: a case report
© Kato et al. 2015
Received: 15 May 2015
Accepted: 9 July 2015
Published: 17 July 2015
A 9-year-old male presented with a renal tumor that showed a cystic structure with calcification on computed tomography. A pathological analysis of the resected tumor suggested clear cell sarcoma of the kidney (CCSK). Thus, this patient suffered atypical CCSK with significant calcification and gross necrosis. A novel chromosomal abnormality was also identified in the tumor.
Clear cell sarcoma of the kidney (CCSK) is a rare renal tumor in children, second to Wilms tumor. CCSK represents 2–9 % of all pediatric renal tumors and generally arises before the age of 5 years [1, 2]. The male-to-female ratio is almost 2:1 [1, 2]. Its typical features are a mucoid texture, necrotic foci, and prominent cyst formation. Multiple histological patterns (classic, myxoid, sclerosing, cellular, epithelioid, palisading, spindle, storiform, and anaplastic) are blended together . A CCSK in a 9-year-old male is described with an atypical pathological status, including gross necrosis and calcification.
Chemotherapy was administered according to the Japanese Wilms Tumor Study (JWiTS)-2 Regimen I, including vincristine, doxorubicin, and cyclophosphamide. The patient has remained in complete remission for 3 years.
In terms of its pathological features, CCSK is most commonly described as a tan-grey, soft, and mucoid mass on cut section [1, 2]. Cystic foci are nearly universal and occasionally constitute the dominant feature, prompting radiological and gross pathological diagnoses of multilocular renal cyst [1, 2]. The microscopic appearance of these lesions also mimics cystic nephroma. Within these typically large and relatively homogeneous tumors, discrete foci of necrosis and hemorrhage are common on microscopic analysis [1, 2]. On the contrary, the tumor in our patient appeared as a huge heterogeneous cystic mass on enhanced CT. Gross and microscopic pathological analysis showed that the cysts contained necrotic tissues. These findings are not typical of CCSK.
Radiographically demonstrable calcification is observed in 3–17 % of primary Wilms tumors [3, 4], but calcification is rarely reported in CCSK. Glass et al. reported calcification in CCSK, which was detected as acoustic shadowing on sonography, indicating a calcific deposit . In the present case, calcification was detected on CT. The pathological findings revealed that the calcification was present around the sphacelus, which is considered dystrophic calcification attributable to necrosis . These results suggest that huge areas of necrosis and calcification are not reasons to reject a diagnosis of CCSK.
The abnormal karyotype t(10;17)(q22;p13) has been reported previously in CCSK , and CpG sites in the THBS1 gene were shown to be specifically hypermethylated in CCSK . A new chromosomal abnormality was detected in our patient, 46,XY,der(3)(3pter → 3q23::7?::3?::7p13 → 7pter)der(7)(X?::7p11.2 → 7q22::3?::Xq13 → Xqter)der(X)del(X)(p11.2p22.1)t(X;7)(q11;?). A complex karyotype, containing chromosomal 3, chromosomal 7, and X chromosomal abnormalities, was detected with spectral karyotyping FISH, in which a fragment of chromosome 7 was added to the partially deleted X chromosome. It is unclear whether this abnormality was involved in the development of CCSK, although renal cell sarcoma (RCC) with an Xp11.2 translocation has been reported [9–11]. Calcification and CCSK occurrence, which were two features of our patient, in an older child or young adult are characteristics of RCC with the Xp11.2 translocation [9–11]. Interestingly, both patients with Xp11.2 RCC and our patient display X-chromosome abnormalities. Therefore, it is likely that an X-chromosome aberration produces an atypical pathogenesis in CCSK, including calcification and huge areas of necrosis.
CCSK is considered an unfavorable histological renal tumor by the National Wilms Tumor Study Group (NWTSG) and JWiTS [1, 2, 12–14]. The survival rate for stage 2 CCSK is reported to be 75 % when doxorubicin is added to the therapeutic regimen [1, 2, 13, 14]. However, necrosis is reported to increase the risk of tumor-related mortality in CCSK . Our patient requires careful follow-up.
The calcification is not a reason to reject a diagnosis of CCSK.
Written informed consent was obtained from the parents of the patient for publication of this Case Report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
Acknowledgements to Dokkyo Medical University Hospital Tochigi Children Medical Centre team staffes.
Acknowledgements to Annabel Boyes and Aaron Stallard for language corrections.
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