Four children who developed oncocytoid renal cell carcinoma (RCC) after neuroblastoma are reported. One patient had multiple, bilateral RCCs. The mean age at time of diagnosis of RCC was 8.8 years (range, 5-13 years). The mean interval between neuroblastoma and RCC was 7.15 years (range, 3.1-11.5 years). The histologic findings of these RCCs did not fit within the spectrum of known renal epithelial neoplasms. Most of the neoplastic cells in all cases had eosinophilic, oncocytoid cytoplasm and were arranged in solid and papillary growth patterns. A subset of cells with reticular cytoplasm was also present. Immunohistochemical studies demonstrated keratins 8 and 18 in all neoplasms and keratin 20 in two cases. DNA ploidy analysis revealed that two of three neoplasms assessed were aneuploid. Cytogenetic studies revealed 45, XX, add or dup (7)(q32q36) in one neoplasm, and 83-89, XXXX, -1 ,-3, del (3)(q11.1q2?1), der(4)t(4;?22) (q32;q11.2), -14, -22 in a second tumor. Microsatellite polymerase chain reaction analysis detected no abnormalities in one neoplasm and allelic imbalance of chromosomes 2p31-32.2, 8p22, 9p22-24, 13q22, 20q13, and 22q11 in a second tumor. In case 4, two different RCCs excised 6 months apart were analyzed. The initial neoplasm showed allelic imbalance of chromosomes 2q31-32.2, 5q22, 5q31, 10p13-14, 13q22, 14q31, and 20q13. The subsequent neoplasm showed allelic imbalance of chromosomes 3p21.3, 14q31, and 20q13. The common presence of 14q31 and 20q13 abnormalities suggests that these two neoplasms were genetically related. In aggregate, these findings are distinctive, are not found in known types of RCC, and support the morphologic impression that oncocytoid RCC after neuroblastoma is a distinct clinicopathologic entity.
"Renal cell carcinoma after neuroblastoma are seen in long term survivors of childhood neuroblastoma . Therefore it has been suggested that therapy for neuroblastoma plays a role in the pathogenesis of these renal carcinomas. "
[Show abstract][Hide abstract] ABSTRACT: Renal cell carcinoma is a group of malignancies arising from the epithelium of the renal tubules. The pattern of somatic mutations in kidney tumors has been extensively investigated. In the current 2004 WHO classification, the molecular background of a renal tumor has become, in addition to histopathology, a major criterion for tumor classification. The goal of this review is to discuss morphology and genetics of adult renal epithelial cancer included in the 2004 WHO classification and to mention renal tumor types, which are not considered in the current WHO classification. Further, pathologic considerations with clinical and prognostic implications are provided.
Seminars in Cancer Biology 06/2012; 23(1). DOI:10.1016/j.semcancer.2012.06.006 · 9.33 Impact Factor
"In the previously cited study from Fleitz et al. , 10 of 16 RCC patients had received cyclophosphamide for treatment of NB. On the other hand, a specific relationship between neuroblastoma and subsequent RCC has been postulated, and NB survivors appear to be at risk for RCC even if they received no chemotherapy . Post-NB RCC appears to have a distinctive pathologic appearance and has been recognized in the 2004 WHO renal tumor classification as a discrete entity ; however, there may be morphologic overlap with translocation RCCs . "
[Show abstract][Hide abstract] ABSTRACT: Renal cell carcinoma (RCC) comprises about 5% of pediatric renal neoplasms. It has been recognized as a second malignancy in multiple reports. It is generally symptomatic at diagnosis, and most children with RCC present with more locally advanced disease than do adults. Contemporary investigation of pediatric RCC has demonstrated that a large percentage of these tumors bear cytogenetic translocations involving the MiT family of transcription factors. Surgical therapy for these children resembles operative intervention for adult RCC, though debate continues about the precise role of lymph node dissection. There are no adequately powered studies to support conclusions about adjuvant or neoadjuvant chemotherapy for children with RCC. This may be ameliorated by a multi-institutional protocol which is enrolling patients.
"Studies are in progress to determine whether SEL1L is lost in oligodendroglial astrocytic tumors (Dichamp et al., 2004). Allelic imbalance and loss of chromosome 14q were also found in head and neck squamous cell carcinomas (HNSCCs), in primary colorectal carcinomas with metastatic ability as well as metastases, in the renal cell carcinomas associated with neuroblastoma, in the Korean ovarian carcinomas, and in the oral squamous cell carcinomas (Lee et al., 1997; Medeiros et al., 1999; Thorstensen et al., 2001; Bruder and Moch, 2004). "
[Show abstract][Hide abstract] ABSTRACT: Since the cloning in 1997 of SEL1L, the human ortholog of the sel-1 gene of C. elegans, most studies have focused on its role in cancer progression and have provided significant evidences to link its increased expression to a decrease in tumor aggressiveness. SEL1L resides on a "Genome Desert area" on chromosome 14q24.3-31 and is highly conserved in evolution. The function of the SEL1L encoded protein is still very elusive although, several evidences from lower organisms indicate that it plays a major role in protein degradation using the ubiquitin-proteosome system. SEL1L has a very complex structure made up of modules: genomically it consists of 21 exons featuring several alternative transcripts encoding for putative protein isoforms. This structural complexity ensures protein flexibility and specificity, indeed the protein was found in different sub-cellular compartments and may turn on a particular transcript in response to specific stimuli. The overall architecture of SEL1L guarantees an exquisite regulation in the expression of the gene.
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