Congenital “clear cell sarcoma of the kidney”
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- Hung, N.A. Virchows Arch (2005) 446: 566. doi:10.1007/s00428-005-1253-z
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At 31 weeks gestation, a hydropic male fetus died in utero with metastatic disease from a renal clear cell sarcoma. The tumor had metastasized to para–aortic and mediastinal lymph nodes, lung, pleura, and liver, leading to superior vena cava obstruction and pulmonary hypoplasia. The pathologic findings and cytogenetic analysis of the fetus and tumor are presented. In addition, review of the literature reveals six other cases aged <6 months of age, including two extrarenal cases.
KeywordsClear cell sarcoma kidneyCongenitalMetastaticCytogenetics
Clear cell sarcoma of the kidney is a rare aggressive neoplasm of the pediatric population, which is even more rarely reported as a congenital tumor or in the first 6 months of life. The usual age of diagnosis is about 3 years old with a male predominance. Also called “bone metastasizing renal sarcoma”, it has a propensity to metastasize to bone, lung, liver and lymph nodes. Extrarenal tumors with identical morphology and phenotype are also included in this report.
In this remarkable case, a hydropic male fetus died in utero with metastatic disease at 31 weeks gestation. The tumor was locally invasive, and had metastasized to para–aortic and mediastinal lymph nodes, leading to superior vena cava obstruction and pulmonary hypoplasia. Metastases were found in the lung, liver, and pleura. The pathologic findings, and cytogenetic analysis of the fetus and tumor are presented. In addition, review of the literature reveals six other cases aged <6 months of age, including two extrarenal cases.
A 36-year-old woman in her third pregnancy, with no significant past medical history or family history of pediatric or renal tumors, presented with decreased fetal movements. A 20 week gestation ultrasound scan by an experienced ultrasonographer assessed fetal anatomy as normal. A further scan performed at the time of presentation at 31 weeks for lack of fetal movements identified intrauterine demise of the fetus, and, labor was therefore induced. (The mother has since delivered a healthy term infant with no evidence of renal anomaly.)
The fetus was a grossly hydropic male fetus weighing 2665 g, crown–rump length 32 cm, crown–heel length 42 cm and foot length of 6.8 cm. The head circumference was 32.5 cm and abdominal circumference 32 cm. Within the chest cavity, the heart and both lungs were displaced to the left and the right pleural cavity contained 175 ml of serous fluid.
The pleural surface of the diaphragm and posterior part of the parietal pleura had multiple small tumor deposits. The heart was normal in weight and anatomy, weighing 11 g, but both the bilobed left lung and trilobed right lung were hypoplastic, weighing 12 g combined. A tumor nodule was present within the hilum of the left lung. The mediastinal nodes were grossly enlarged by metastatic tumor, and these extended around the superior vena cava and great vessels.
The right kidney weighed 24 g and tumor comprised at least 15 g, measuring 30 mm in diameter. The upper pole of the right kidney was replaced by tumor that invaded posteriorly into the retroperitoneal soft tissues close to the vertebrae and replaced para–aortic lymph nodes. The left kidney was normal, weighing 9 g. Both ureters and urinary bladder were normal. The left and right adrenals were normal, although the right adrenal gland was engulfed by tumor. Microscopically cytologic detail was evident in all organs despite intrauterine demise.
Materials and methods
Immunohistochemical studies were performed according to the manufacturer’s protocol for the following antibody clones and dilutions: Vimentin Dako clone v9, 1:500 dilution, CD10 Novocastra clone 56C6 1:100, pan–cytokeratin MNF 116 Dako 1:100, S100 Dako 1:500, HMB–45 Dako 1:50, LCA Dako clone PD7/26, 1:100), CD30 Dako clone Ber H2 1:40, CD34 Dako clone QBEnd10, 1:50, CD99, EMA Dako clones E29, 1:100 and BerEP4, 1:200, and desmin Dako clone D33, 1:100, and BCL2 Dako clone 124, 1:50.
G–banding cytogenetic analysis from primary culture was performed on fresh tissue from the normal kidney and tumor.
Cytogenetics produced a 46XY karyotype from the normal tissue of the kidney, whereas the tumor produced a balanced translocation between chromosomes 13 and 14 (46,XY, t(13;14)(q12;q32) in the two metaphases that were suitable for analysis.
Cases of clear cell sarcoma of the kidney reported in the literature. A&W alive and well, DwD dead with disease, PR perirenal, NC non-classical, NS not specified, m months, NB newborn
Suzuki et al. 1983
Negative/No PR invasion
Mazzoleni et al. 2003
Negative/No PR invasion
Kataoka et al. 1993
Newbould and Kelsey 1993
Argani et al. 2000
El Kababri et al 2004
The inability of an experienced ultrsonographer to diagnose the tumor in this case at 20 weeks gestation, even if present at that time, confirms the possibility for clear cell sarcoma of the kidney to grow and metastasize rapidly. The National Wilms Study report identified a favorable prognosis group of low stage , and indeed, the stage 1 congenital tumors in this group were reported to be alive and well without recurrence at 12 and 25 months.
However, the case reported herein, and, the case reported by Kataoka et al. , were stage 4 at presentation and pursued an aggressive course (despite surgery and chemotherapy including vincristine, cyclophosphamide, pirarubicin and cisplatin). The rapid demise in these cases suggests that both an aggressive and a more indolent form may exist, reflected in stage at presentation. It would seem premature, however, to propose that the prognosis of renal neoplasia of the sarcomatous type in the newborn should carry a favorable prognosis, and that aggressive therapy is not required .
Clear cell sarcoma of the kidney appears to arise from a primitive cell of the kidney and extrarenal cases may arise from mesonephric remnants, as all cases identified so far, even in older patients, have been associated with the pelvis or retroperitoneum . This case has the typical immunoperoxidase profile with positive vimentin and CD10, and negative staining for keratins, CD99, EMA and desmin, which in addition to the morphological features, differentiates Wilms tumor, peripheral neuroectodermal tumor, and congenital mesoblastic nephroma. CD10 positivity has been reported in the developing kidney and clear cell sarcoma of the kidney .
Punnett et al.  found a 10;17 translocation in their case of clear cell sarcoma in an 11-month-old boy. In our case, a 13;14 translocation was found, but the significance of this finding is unclear, and no report of this translocation in other tumors exists to the best of the author’s knowledge. Further reports of the cytogenetic findings in the clear cell sarcoma of the kidney in the English literature, were not identified.
Although rare, these cases illustrate that the so–called clear cell sarcoma of the kidney must be considered in the differential of congenital tumors, both intrarenal and extrarenal in location.
The author wishes to thank Spencer Walker for his expert technical assistance.