Dinesh Rakheja

..These results indicate that functional targets of EWS-FLI1 that mediate tumorigenesis are conserved from zebrafish to human and provide a novel context in which to study the function of this fusion oncogene...

....

..In addition, cytogenetic analysis revealed a karyotype unreported in this neoplasm: 46,XX,der(4)t(4;9)(q31.1;q34), del(9)(p22p24),der(9)t(4;9)(q31.1;q34)ins(9;?)(q34;?) (17 cells)/46,XX (3 cells)...

..The involvement of the chromosome region 9p24 is particularly interesting because of the recent identification of a tumor suppressor gene, KANK (kidney ankyrin repeat-containing protein), at this locus...

..Among mesenchymal tumors, aberrant nuclear localization of beta-catenin is seen in desmoid-type fibromatoses but has not been described for solitary fibrous tumors that may mimic the former lesions, especially in small biopsy samples...

..Dietary or therapeutic interventions targeting lipid rafts may thus be an option for cancer treatment...

..Our study demonstrates that inactivation of the DNA mismatch repair genes hMLH1 and hMSH2 does not appear to play a role in the tumorigenesis of pediatric renal cell carcinomas with Xp11.2 rearrangements...

....

..We suggest that such alterations in the lipid raft sterol environment may affect the biology of cells and the development of fetuses with cholesterol biosynthetic disorders...

..In this review, following an introduction to the neuronal ceroid-lipofuscinoses, we provide a brief overview and an update of the most recent research in JNCL, specifically that related to the function of CLN3P...

..Recognition of the histopathologic and cytogenetic features of this entity is necessary to avoid its misdiagnosis as ES/PNET, especially in small biopsy samples...

..Further studies should clarify if elevated 2-hydroxyglutarate in PTC may be useful as cancer biomarker and evaluate the role of 2-hydroxyglutarate in cancer biology...

..Occasional cases of cranial fasciitis may be associated with FAP and serve as an early indicator of this disease, information that would be important in the early diagnosis of FAP in patients without a family history of polyposis...

..In addition, placental examination showed α-fetoprotein-positive, eosinophilic, globular inclusions in the cytoplasm of a few villous macrophages. The significance of this novel histologic finding is unclear...

..We describe 2 cases (in a 12-year-old girl and an 11-year-old boy) of acquired thymic cysts occurring in association with cystic teratomas, an association that to our knowledge has not been described previously in the literature...

..In this study, we demonstrate that CLN3P resides on membrane lipid raft domains (detergent-resistant membranes) and provide important new data towards possible functions of the protein...

..A clear cell sarcoma from the kidney of a 12-month-old male child manifested a balanced translocation, t(10;17)(q22;p13). This is the second report of this cytogenetic abnormality in renal clear cell sarcoma...

..It has been suggested that a GCT be classified as atypical when 1 or 2 of these features are seen and as malignant when 3 or more of these are present. In our practice, we do not classify GCTs as malignant in the absence of metastasis...

..With the increasing use of nephron sparing surgery in Wilms tumor, we reviewed pathological features from Wilms tumor radical nephrectomy specimens to determine the potential efficacy of a nephron sparing approach...

..No tumor showed any significant OCT3/4, NANOG, or TCL1 expression. Our results suggest that malignant rhabdoid tumors may arise from and/or share features with embryonic stem cells or germ cells...

..In the hepatoblastoma sinusoidal vasculature, we saw NOTCH3 and NOTCH1 expression. These observations have potential implications with regard to therapeutic targeting of the NOTCH signaling pathway in hepatoblastomas...

..Based on the morphologic and cytogenetic findings in this case, we suggest that the proximal-type and the classic epithelioid sarcomas are not distinct entities but represent a continuum...

..The absence of SALL4 staining in nephrogenic rests, the presumed precursors of Wilms tumors, is intriguing and suggests that Wilms tumors have a pluripotency quality that may be lacking in nephrogenic rests...

..These histopathologic changes have been previously described in numerical chromosomal aberrations like triploidy, tetraploidy, and trisomies, but not in structural chromosomal abnormalities...

..To evaluate the efficacy of needle biopsy for diagnosing Wilms tumor (WT) before chemotherapy...

..Based on recent data demonstrating that renal preserving surgery decreases the likelihood of chronic renal disease and associated co-morbidities, we analyzed oncologic outcomes of patients after partial nephrectomy (PN) for UWT...

..This observation potentially widens the tumor spectrum in this metabolic disorder and may lead to further insight into the relationship between L-2-hydroxyglutaric acid and cellular transformation...

..Although numerous mutations are detected in the samples, the diagnostic use of molecular analysis in this regard is limited...

..Targeted therapy including PI3K pathway inhibitors might be a potential treatment for rare cases of adnexal carcinomas with metastases...

..It is not known if these persistent NCAM-positive interstitial cells might give rise to adult Wilms tumors and cases of pediatric Wilms tumors not associated with nephrogenic rests...

..Taken together, these data demonstrate that (13) C-labeled glucose can be used in orthotopic mouse models to study tumor metabolism in vivo and to ascertain new metabolic targets for cancer diagnosis and therapy...

..4). This is the fifth description of a cytogenetic abnormality in mesenchymal hamartoma and is similar to the four cases reported previously in that one of the breakpoints involved chromosome band 19q13.4...

..This may represent persistence of or regression to a fetal phenotype since normal fetal tissues are known to express high levels of fatty acid synthase...

..The biochemical data showing an excess of 7-dehydrocholesterol and low cholesterol in the liver tissue of our case supports this viewpoint...

..Morphologic and immunophenotypic similarities to mucinous adenocarcinomas of the gastrointestinal tract can pose diagnostic challenges for surgical pathologists, especially in small biopsy specimens...

..Immunohistochemistry to assess expression of SMARCB1/INI1 may be useful in the diagnosis of rhabdoid tumors of the CNS, kidneys and soft tissue...

..A tumor with Ki-67>11% and/or phosphorylated histone H3>0.7% would likely be a malignant rather than an atypical hidradenoma. The infrequent Her2/neu overexpression in hidradenocarcinoma suggests its limited therapeutic role...

..Detection of 2HG correlated with mutations in IDH1 or IDH2 and with increased levels of D-2HG by mass spectrometry of the resected tumors. Noninvasive detection of 2HG may prove to be a valuable diagnostic and prognostic biomarker...

..Furthermore, EGFR targeted therapy may be potentially useful in the treatment of basal-like TN breast cancer...

..It is possible that the CFTR gene may play a previously unrecognized role in CNS development. Alternatively, this CNS abnormality may be acquired due to the metabolic and electrolyte imbalances that characteristically occur in CF...

..We also retrospectively examined 78 congenital nevi of 65 pediatric patients at our institution. Rosette formation was not seen in any of these cases...

..We present this case as an illustration of an unusually severe manifestation of this disorder in a female, with additional unusual features including lack of skin manifestations and apparent bilateral symmetry of the skeletal findings...

..These data indicate that the immune response in both syphilitic villitis and VUE is similar, raising the possibility of a similar immunopathogenetic pathway...

..This review summarizes the structural and functional changes of the aging kidney and highlights the advances made in our understanding of the renal aging process...

..These data suggest that IDH1/2 mutations constitute a distinct mutational class in acute myeloid leukemia, which affects the epigenetic state, an important consideration for the development of therapeutic agents...

....

..These results indicate a germ-cell-autonomous role for BMP signal transduction in germ-cell differentiation, and highlight the importance of the BMP pathway in human GCTs...

..This first reported case of dysgerminoma in a sex-reversed patient with CD who also had urolithiasis stresses the importance of prophylactic gonadectomy and urologic evaluations in this susceptible population...

..In this review we discuss the biochemical and molecular basis, clinical features, diagnosis, and management of long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency...

..Further studies should be performed to evaluate the role of HES1 immunohistochemistry as a diagnostic tool in extrahepatic biliary atresia...

....

..Therefore, an altered fatty acid oxidation may not be the mechanism for the reported increased risk of preeclampsia in HIV-infected pregnant women on HAART...

..It was negative for cytokeratin 20, p21, and alpha-fetoprotein. These findings are strongly supportive of the opinion that intratubular embryonal carcinoma is the precursor of invasive embryonal carcinoma...

..We review the clinical features, the diagnostic protocol including expanded neonatal screening, the treatment, and the biochemical and molecular basis of CPT II deficiency...

....

..The scarcity of adequate cell models has limited our understanding of this tumor. Here we describe and characterize a new human liver tumor cell line, Hep293TT, derived from an aggressive childhood hepatoblastoma...

..CLN3P significantly increased the survival rate of the SH-SY5Y cells in this system. This study provides additional evidence that the function of CLN3P is related to preventing neuronal apoptosis...

..INTERPRETATION: We propose that palmitoyl-protein desaturation defines a new mechanism of proteolipid modification, and that deficiency of this process leads to the signs and symptoms of Batten's disease...

..Thus human placenta derives energy from fatty acid oxidation, providing a potential explanation for the association of fetal fatty acid oxidation disorders with maternal liver diseases in pregnancy...

..These preclinical results suggest that targeting of the apoptotic machinery in pancreatic cancers with XAntags is a promising therapeutic option that warrants further evaluation...