Clear cell sarcoma of the stomach

Clear cell sarcoma (CCS) is a high grade soft tissue sarcoma with a distinct molecular profile. Gastrointestinal CCS is very rare and most reported cases are in adults. We describe a 10‐year‐old female with a 4‐month history of anemia who later developed fever, weight loss and abdominal pain. She was subsequently found to have a large infiltrative gastric mass. A diagnosis of CCS was confirmed by molecular and cytogenetic studies. This case illustrates the necessity of a multimodal approach, particularly the use of molecular studies, in the diagnostic evaluation of rare tumors presenting in unusual sites. Pediatr Blood Cancer 2009;53:214–216. © 2009 Wiley‐Liss, Inc.     

Clear cell sarcoma of the kidney in a 4-month-old infant: A case report

A case of clear cell sarcoma of the kidney is described in a 4-month-old male infant. The tumor had a typical histological pattern, consisting of sheets of tumor cells possessing “empty” nuclei set within a delicate capillary network. There was extensive necrosis and tumor cell cytoplasm contained vimentin. This tumor occurs only rarely in infants less than six months of age. The different renal neoplasms of childhood have diverse prognoses and demand specific therapy so that accurate diagnosis is mandatory. The present case illustrates that clear cell sarcoma, a highly malignant neoplasm, must be considered in the differential diagnosis of a renal mass occurring in this age group. © 1993 Wiley-Liss, Inc.     

Late recurrence of clear cell sarcoma of the kidney

Clear cell sarcoma of the kidney (CCSK) is a rare pediatric neoplasm with particular propensity for bone metastasis that requires aggressive therapy. We report a patient with CCSK who was misreported as having Wilm's tumour at the time of initial diagnosis and received only minimal therapy. The disease recurred locally-after 8 years, with no evidence of distant metastasis. Important clinical and histologic features of CCSK are described, along with a review of the literature. Med. Pediatr. Oncol. 28:355–357, 1997 © 1997 Wiley-Liss, Inc.     

Clear cell sarcoma: a dilemma on pathological staging and clinical management

Clear cell sarcoma of the kidney (CCSK) has been classified as high risk tumour in the previous UK and international Wilms tumor studies [2-5]. The current Society of Paediatric Oncology (SIOP) trial, UK version, advocates chemotherapy including doxorubicin prior to nephrectomy. Pathological staging and histology of the resected tumor are then applied to determine the extent and intensity of the postoperative therapy. We describe an unusual case with a trilobed tumor and debate the appropriate postoperative management.     

Carcinoma of the Tongue in a Long-Term Survivor of Clear Cell Sarcoma of the Kidney

Squamous cell carcinoma (SCC) of the tongue in persons younger than 30 years of age is an extremely rare neoplasm. We report an unusual case of SCC of the tongue as a second malignancy in a young adult with a history of a stage III clear cell sarcoma of the kidney (CCSK) treated 19 years earlier. Review of the literature reveals a spectrum of cytogenetic abnormalities in SCC; however, aberrations involving the long arm of chromosome 10 have been reported in both SCC and CCSK. Long-term follow-up, with particular attention to the head and neck, may be warranted in children with CCSK.     

BCOR‐CCNB3 fusion‐positive clear cell sarcoma of the kidney

Clear cell sarcoma of the kidney (CCSK) is the second most common malignant pediatric renal tumor. Two of the recurrent somatic alterations reported in CCSK are BCL‐6 corepressor (BCOR) internal tandem duplication (ITD) and YWHAE‐NUTM2B/E gene fusion. A minority of patients with CCSKs have other rare somatic alterations. We report two patients with CCSK showing BCOR‐CCNB3 (where CCNB3 is cyclin B3) fusion, who had similar clinical presentation of a large renal mass with tumor thrombus extending through the inferior vena cava into the right atrium and a favorable response to chemotherapy. We recommend BCOR‐CCNB3 fusion testing for all patients with CCSK who lack BCOR‐ITD or YWHAE‐NUTM2B/E gene fusions.     

Familial Adenomatous Polyposis Coli and Clear Cell Sarcoma of the Kidney

Familial adenomatous polyposis coli is an inherited multiple neoplasia syndrome that is associated with an increased risk for development of another primary tumor. We report a case of a 14-year-old boy who had a proctocolectomy for familial adenomatous polyposis coli. He had survived radical nephrectomy, chemotherapy, and radiotherapy for a congenital clear cell sarcoma of the right kidney. Perhaps the presence of the familial adenomatous polyposis gene induces chromosomal instability in affected persons.     

中晚期儿童肾透明细胞肉瘤10例的诊治及预后分析

目的探讨中晚期儿童肾透明细胞肉瘤(CCSK)的临床特点、诊治经过及预后特点。方法收集2014年1月至2017年12月在首都医科大学附属北京同仁医院儿科住院治疗的10例中晚期CCSK患儿的临床资料,对其临床特征、诊疗经过及预后情况等进行回顾性分析。结果1.临床特点:10例CCSK病例中男6例,女4例;中位发病年龄为32个月;7例为左侧CCSK,3例为右侧CCSK。初次诊断时Ⅲ期9例,Ⅳ期1例;其中4例初次诊断时误诊为肾脏其他肿瘤(40%,4/10例)。5例Ⅲ期病例治疗及随访过程中出现肿瘤复发及转移,主要远处转移部位为肺、骨、肝脏及脑。2.治疗及预后:10例中给予手术联合放疗及化疗者7例,未规范化治疗放弃者3例。中位随访时间33.5个月,7例存活,3例死亡,3年总生存率为65.6%。Ⅲ期患儿3年总生存率为74.1%,Ⅳ期患儿3年总生存率为0,Ⅲ期与Ⅳ期预后比较差异有统计学意义(χ^2=9,P=0.003)。5例复发病例中仅1例完全缓解,2例部分缓解,1例进展,1例死亡;3例无复发病例均完全缓解,且均为给予手术、化疗及放疗规范化治疗者。结论儿童CCSK初诊误诊率高,Ⅲ期病例治疗及随访过程中复发及远处转移风险高;Ⅲ期病例积极给予手术、化疗及放疗的规范化治疗,预后良好,而发生复发及远处转移者死亡率高。     

Anaplastic sarcoma of the kidney: Case report and literature review

Anaplastic sarcoma of the kidney (ASK) is a relatively newly recognized pediatric renal tumor. The present patient, a 13‐year‐old boy with a large renal mass, underwent surgery. Pathological findings showed proliferation of short spindle‐shaped cells with anaplastic features including multiple foci in hyaline cartilage. Complex chromosomal abnormalities were detected in the tumor cells. Postoperative chemotherapy with the regimen for Ewing's sarcoma achieved complete remission but the tumor recurred and the patient died during re‐induction chemotherapy. Autopsy indicated the cause of death as duodenal hemorrhage. Because there were no viable tumor cells, the recurrent tumor was considered to have been completely cured by chemotherapy. ASK is a very rare tumor, of unknown pathogenesis, and no standard treatment has yet been established, but the tumor cells may be responsive to chemotherapy. Further study is needed to establish the optimal treatment strategy.     

Pediatric renal tumor epidemiology: Global perspectives,progress, and challenges

Pediatric renal tumors account for 3%–11% of childhood cancers, the most common of which is Wilms tumor or nephroblastoma. Epidemiology plays a key role in cancer prevention and control by describing the distribution of cancer and discovering risk factors for cancer. Large pediatric research consortium trials have led to a clearer understanding of pediatric renal tumors, identification of risk factors, and development of more risk-adapted therapies. These therapies have improved event-free and overall survival for children. However, several challenges remain and not all children have benefited from the improved outcomes. In this article, we review the global epidemiology of pediatric renal tumors, including key consortium and global studies. We identify current knowledge gaps and challenges facing both high and low middle-incomes countries.     

Ovarian Sarcoma with Pathologic Features of Clear Cell Sarcoma of the Kidney

We report a case of an unusual sarcoma arising in the ovary of an infant girl. Histologically, the tumor was composed of clear, undifferentiated cells set in an arborizing vascular stroma. Immunohistochemical staining was positive only for vimentin. Ultrastructural evaluation demonstrated undifferentiated cells with interdigitating broad cell processes that encompassed irregular electron lucent spaces that contained flocculent extracellular material. Light and electron microscopic features of the tumor resembled a clear cell sarcoma of the kidney. Although the cell of origin is unproven, both tumors may arise from primitive mesenchymal cells that may not be restricted to the kidney. Received April 29, 1999; accepted July 22, 1999.     

Functional and Gene Expression Analysis of the p53 Signaling Pathway in Clear Cell Sarcoma of the Kidney and Congenital Mesoblastic Nephroma

Mutation of p53 has been implicated in progression of classical Wilms tumor (WT) into the anaplastic variant (AWT), drug resistance, and poor prognosis. Because of prognostic similarities, clear cell sarcoma of the kidney (CCSK) has been classified with AWT and other aggressive pediatric renal tumors, apart from congenital mesoblastic nephroma (CMN), which is instead a relatively benign tumor of neonates. Initially, CCSK and CMN were assumed to be ontologically related, but the role of p53 in the pathogenesis of either disease has not been sufficiently evaluated as in AWT. We examined the status of p53 in CMN and CCSK in comparison to AWT by immunohistochemistry and mRNA analysis of p53, the downstream effector p21 ^WAF-1/CIP-1 (p21), the multidrug resistance gene MDR-1, a putative target of p53, and the p53-antagonist Mdm-2. Surprisingly, strong p53 nuclear immunoreactivity was found in cultures from two CMN specimens, but not in frozen or fixed tumor tissue from five other CMN specimens, nor in cell lines or tumor tissue from CCSK. Sequence analysis excluded p53 mutations. The size of the p53 mRNA in CMN and CCSK primary tumors excluded gross deletions or rearrangements. Low levels of Mdm-2 mRNA in CCSK and CMN primary tumors and cultures did not support a role for Mdm-2. Absence of MDR-1 mRNA excluded MDR-1 in the drug-resistant phenotype of CCSK. Cisplatin-induced p21 transactivation assays and G₁ cell cycle arrest analyses showed that p21 transactivation and G₁ arrest occurred in both CCSK and CMN cultures, demonstrating integrity of the p53 signal transduction pathway. Absence of p53 functional abnormalities excluded relationships between CCSK and CMN as in AWT, supporting the association of cellular CMN with congenital fibrosarcomas as more recently proposed. Received November 12, 2001; accepted February 4, 2002.     

Pediatric deceased donor renal transplantation: An approach to decision making II. Acceptability of a deceased donor kidney for a child,a snap decision at 3 AM

Allocation of deceased donor kidneys is based on several criteria; however, the final decision to accept or reject the offered kidney is made by the potential recipient's transplant team (surgeon/nephrologist). Several considerations including assessment of the donor quality, the HLA match between the donor and the recipient, several recipient factors, the geographical location of the recipient, and the organ all affect the decision of whether or not to finally accept the organ for a particular recipient. This decision needs to be made quickly, often on the spot. Maximizing the benefit from this scarce resource raises difficult ethical issues. The philosophies of equity and utility are often competing. This article will discuss the several considerations for the pediatric nephrologist while accepting a deceased donor kidney for a particular pediatric patient.     

Relapsed childhood acute myeloid leukemia patient with inversion of chromosome 16 harboring a low FLT3 internal tandem duplication allelic burden and KIT mutations

Inversion of chromosome 16 [inv(16)] has a good prognosis in acute myeloid leukemia (AML), but additional genetic aberrations influence the outcome. We herein describe the case of a 15‐year‐old Japanese boy with inv(16) harboring a low‐allelic burden internal tandem duplication of FLT3 (FLT3‐ITD) and KIT mutations. Conventional chemotherapy eradicated a clone with a low‐allelic burden FLT3‐ITD mutation, although another clone with a KIT mutation occurred 17 months later. Further investigation is necessary to identify AML with inv(16) conferring poor prognosis, to facilitate appropriate treatment with additional drugs, such as dasatinib or gemtuzumab ozogamicin.