Pediatric Blood & CancerVolume 53, Issue 4 p. 683-684 Letter to the Editor Low frequency of EWSR1 rearrangements in neoplasms classified as high-risk Wilms tumors Ildikó Frigyesi MSc, Ildikó Frigyesi MSc Department of Clinical Genetics, University Hospital, Lund, SwedenSearch for more papers by this authorEmely Möller MSc, Emely Möller MSc Department of Clinical Genetics, University Hospital, Lund, SwedenSearch for more papers by this authorYlva Stewénius MD, Ylva Stewénius MD Department of Clinical Genetics, University Hospital, Lund, SwedenSearch for more papers by this authorMargareth Isaksson MSc, Margareth Isaksson MSc Department of Clinical Genetics, University Hospital, Lund, SwedenSearch for more papers by this authorJohannes Bras MD, Johannes Bras MD Department of Pathology, Academic Medical Center, Amsterdam, The NetherlandsSearch for more papers by this authorJan Alumets MD, Jan Alumets MD Department of Pathology, University Hospital, Lund, SwedenSearch for more papers by this authorIngrid Øra MD, Ingrid Øra MD Department of Pediatric Oncology and Hematology, University Hospital, Lund, SwedenSearch for more papers by this authorBengt Sandstedt MD, Bengt Sandstedt MD Childhood Cancer Research Unit, Astrid Lindgren's Children's Hospital, Karolinska Institute, Stockholm, SwedenSearch for more papers by this authorDavid Gisselsson MD, Corresponding Author David Gisselsson MD david.gisselsson@med.lu.se Department of Clinical Genetics, University Hospital, Lund, SwedenDepartment of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden.===Search for more papers by this author Ildikó Frigyesi MSc, Ildikó Frigyesi MSc Department of Clinical Genetics, University Hospital, Lund, SwedenSearch for more papers by this authorEmely Möller MSc, Emely Möller MSc Department of Clinical Genetics, University Hospital, Lund, SwedenSearch for more papers by this authorYlva Stewénius MD, Ylva Stewénius MD Department of Clinical Genetics, University Hospital, Lund, SwedenSearch for more papers by this authorMargareth Isaksson MSc, Margareth Isaksson MSc Department of Clinical Genetics, University Hospital, Lund, SwedenSearch for more papers by this authorJohannes Bras MD, Johannes Bras MD Department of Pathology, Academic Medical Center, Amsterdam, The NetherlandsSearch for more papers by this authorJan Alumets MD, Jan Alumets MD Department of Pathology, University Hospital, Lund, SwedenSearch for more papers by this authorIngrid Øra MD, Ingrid Øra MD Department of Pediatric Oncology and Hematology, University Hospital, Lund, SwedenSearch for more papers by this authorBengt Sandstedt MD, Bengt Sandstedt MD Childhood Cancer Research Unit, Astrid Lindgren's Children's Hospital, Karolinska Institute, Stockholm, SwedenSearch for more papers by this authorDavid Gisselsson MD, Corresponding Author David Gisselsson MD david.gisselsson@med.lu.se Department of Clinical Genetics, University Hospital, Lund, SwedenDepartment of Clinical Genetics, University Hospital, SE 221 85 Lund, Sweden.===Search for more papers by this author First published: 18 August 2009 https://doi.org/10.1002/pbc.22089Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume53, Issue4October 2009Pages 683-684 RelatedInformation

Many solid tumors exhibit characteristic gene fusions, which are reflected by balanced translocations at the cytogenetic level. These changes might be useful diagnostic and prognostic tools. In Wilms tumor (WT, nephroblastoma) no fusions genes or recurrent balanced translocations have been described thus far. To screen for cryptic balanced translocations, we have analyzed 17 renal neoplasms, histopathologically classified as WT, by a combination of G‐banding, multicolor FISH, and subtelomeric FISH. This approach revealed several submicroscopic chromosomal aberrations and three different seemingly balanced translocations, resulting in a heterozygous deletion of HACE1, an EWSR1/ERG fusion, and an EWSR1/FLI1 fusion, respectively. As EWSR1 rearrangements are known to be a characteristic of Ewing tumors (ET), our findings illustrate the diagnostic problems regarding small cell kidney tumors and strongly argue for the need of adjuvant diagnostic techniques in this group of neoplasms. In summary, our genomic screening approach proved efficient in finding structural chromosomal aberrations. The fact that no recurrent translocations were found in the WTs of this study argues against the presence of a frequent pathognomonic translocation in this disease entity. © 2008 Wiley‐Liss, Inc.

Purpose: In many childhood neoplasms, prognostic subgroups have been defined based on specific chromosome changes. In Wilms' tumor (WT), such subclassification has been hampered by the diverse and relatively unspecific pattern of chromosomal imbalances present in these tumors. Unspecific patterns of cytogenetic imbalances in tumors are often caused by mitotic segregation errors due to short dysfunctional telomeres. As an alternative to cytogenetic classification, we therefore have evaluated whether the rate of telomere-dependent chromosomal instability could influence the clinical course inWT patients. Experimental Design: Telomere function and mitotic segregation errors were assessed in 12 cultured tumors and in tumor tissue sections from 41 WT patients. Results: Abnormal telomere shortening was found in cultured cells and in tissue sections from highly aggressive tumors. In vitro, dysfunctional telomeres were associated to specific cell division abnormalities, including anaphase bridges and multipolar mitoses. Assessment of mitotic figures in tissue sections revealed that anaphase bridges and multipolar mitoses were predominantly, but not exclusively, present in high-risk tumors and were predictors of poor event-free and overall survival. Conclusions: Telomere-dependent mitotic instability is present in a subgroup of WT predominately consisting of high-risk tumors.

Adenocarcinomas of the kidney are rare childhood tumors. Only 30 cases with chromosomal abnormalities have been reported, and neither their karyotypic characteristics nor the molecular mechanisms behind their pathogenesis are clear, except for a special group of papillary tumors characterized by X-chromosome abnormalities. We have cytogenetically analyzed short-term cultured cells from two pediatric renal carcinomas, one papillary, and one chromophobe renal cell carcinoma, revealing the following karyotypes: 58-60,XX,−X,−1,+7,−8,−9,−11,−14,−15,+17,−18,−19,−21,−22 and 36,X,−X,−1,−2,−5,−6,−9,−10,−13,−17,−21/37,idem,+r/36,idem,−14,+1−2r, respectively. The findings indicate that subsets of pediatric renal cell carcinoma show karyotypes that are similar to their adult counterparts.

Intestinal duplication cysts are uncommon congenital malformations. Duplication cysts can occur in any part of the GI tract, with the highest incidence in the ileum. More than 70% of the cases of intestinal duplications occur in children, 1 Holcomb 3rd, G.W. Gheissari A. O'Neill Jr., J.A. et al. Surgical management of alimentary tract duplications. Ann Surg. 1989; 209: 167-174 Crossref PubMed Scopus (308) Google Scholar and they usually become symptomatic early in life. Manifestations of intestinal duplication in adults are exceptionally rare. Conventional radiologic and endoscopic techniques to examine the small intestine provide only limited information about diseases in the small bowel. Interestingly, wireless video capsule endoscopy is a new and noninvasive method that facilitates complete visualization of the small intestine. 2 Gay G. Delvaux M. Rey J.F. The role of video capsule endoscopy in the diagnosis of digestive diseases: a review of current possibilities. Endoscopy. 2004; 36: 913-920 Crossref PubMed Scopus (95) Google Scholar In this case report, we present an adult patient with obscure GI bleeding emanating from an ulcerated ileal duplication cyst revealed by wireless capsule enteroscopy.

The presence of neuroendocrine differentiation, as expressed by cellular chromogranin immunoreactivity, was investigated in paraffin‐embedded tissue material from 51 consecutive cases of male breast carcinoma. From six of these cases electron microscopic studies were included. Chromogranin‐immunoreactive cells were present in solid cords and delineated tubular structures. Ultrastructurally, dense core secretory granules could be detected. The expression of neuroendocrine differentiation was 45%, which is between two and eight times higher than reported for female breast carcinomas by other investigators. The present findings suggest that male breast carcinoma is an exclusive tumour disease showing both similarities and discrepancies when compared to its female counterpart.

Rat yolk‐sac tumors were induced by intraperitoneal (i.p.) displacement of the visceral yolk sac in fetectomized W/Fu rats. Serum was obtained from each female rat prior to the pregnancy preceding the tumor‐inducing procedure and then once a month during the induction period. The sera were analyzed for the presence of antibodies binding to cultured cells of one of the yolk‐sac tumors. Sera were also assayed for complement‐dependent cytotoxic antibodies on tumor cells. In rats that developed tumors, antibodies reacting specifically with the target tumor cells could be detected in all of 10 rats. Antibodies appeared before tumor detection in all animals but one, and in 6 rats as early as 11 to 25 weeks prior to tumor detection. Nine rats developed antibodies demonstrable in the binding assay and in 6 of those the antibodies appeared 8 to 25 weeks before the tumor became palpable. Analysis of the isotypes of the Ig that bound to tumor cells showed that IgG1 and lgG2b were most frequently present. In one rat lgG2a antibodies appeared one month before tumor detection followed by IgG1 and lgG2b antibodies detectable 4 weeks later. IgG2c and IgM antibodies were not detected in any of the rats. At dilution 1/10, sera of all 10 rats showed specific cytotoxicity to the tumor cells in the presence of added rabbit complement. In 9 of these animals antibodies were demonstrated 1 to 4 months prior to tumor detection.

Electron microscopic immunocytochemistry using protein A-gold labelling of ultrathin sections revealed immunoreactive glicentin (gut-type glucagon) and peptide YY (PYY) in virtually all secretory granules in a population of L-type endocrine cells in feline colon and human rectum. The granules of the human glicentin/PYY cells were considerably smaller in size than those in the cat. In both species the results indicate co-existence of glicentin and PYY in the same secretory granules, despite the probable derivation of the two peptides from two different precursors.