Immunophenotype-Genotype Correlations in Clear Cell Sarcoma of Kidney-An Evaluation of Diagnostic Ancillary Studies.

Introduction: The purpose of this study was to establish a reliable panel of antibodies for immunohistochemical corroboration of a diagnosis of clear cell sarcoma of kidney (CCSK), taking into consideration the various genotypic subsets of CCSK.

Methods: We conducted full genotypic analysis for evidence of internal tandem duplication (ITD), and in 68 archival cases of CCSK and then immunostained all cases for CCND1, TLE1, and BCOR along with 63 control samples representing tumor types that may enter into the differential diagnosis of CCSK, including 7 congenital mesoblastic nephromas, 2 desmoplastic small round cell tumors, 13 malignant rhabdoid tumors, 9 Ewing sarcomas/primitive neuroectodermal tumor, 5 synovial sarcomas, and 27 Wilms' tumors.

Results: Molecular assays showed that 54 CCSKs harbored a -ITD, 1 case expressed a fusion transcript while none expressed the fusion.

Cyclin E1 is amplified and overexpressed in osteosarcoma.

Osteosarcoma is a genetically complex malignancy, predominantly afflicting the adolescent population and associated still with relatively poor long-term outcomes. Although there has been some improvement in the understanding of osteosarcoma biology, this has not yet translated particularly well into therapeutic advances. By using a whole-genome tiling path array for comparative genomic hybridization analysis, we sought to evaluate DNA copy number changes in 22 osteosarcoma tumor samples.

Rhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional Tp53 mutation.

The 2004 World Health Organization classification includes the new entity "neuroblastoma-associated renal cell carcinoma." The pathogenetic link between these entities is unknown as yet. The patient reported herein developed renal cell carcinoma after anaplastic embryonal rhabdomyosarcoma, a previously unknown association.

Heat-accelerated fixation and rapid dissection of the pediatric brain at autopsy: a pragmatic approach to the difficulties of organ retention.

We investigated whether it is possible to accelerate the examination of a pediatric brain at autopsy and thus facilitate its return to the body before a funeral without compromising the quality of the neuropathologic examination. Accelerated fixation and next-day dissection of the brain was performed in selected cases over a 2-year period by using a microwave histologic tissue processor (MicroMed T/T MEGA, Milestone, Sorisole, Italy). Direct comparison of the histologic appearance and immunohistochemical reactivity of 2 cases, 1 fixed by conventional methods and 1 fixed with the accelerated method, was performed in a blinded fashion by a specialist neuropathologist.

Oligonucleotide microarray analysis of gene expression in neuroblastoma displaying loss of chromosome 11q.

A number of distinct subtypes of neuroblastoma exist with different genetic abnormalities that are predicative of outcome. Whole chromosome gains are usually associated with low stage disease and favourable outcome, whereas loss of 1p, 3p and 11q, unbalanced gain of 17q and MYCN amplification (MNA) are indicative of high stage disease and unfavourable prognosis. Although MNA and loss of 11q appear to represent two distinct genetic subtypes of advanced stage neuroblastoma, a detailed understanding of how these subtypes differ in terms of global gene expression is still lacking.