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Contents

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Williams", "lastName": "Parsons" } ], "abstractNote": "The X-linked BCL-6 co-repressor (BCOR) gene encodes a key constituent of a variant polycomb repressive complex (PRC) that is mutated or translocated in human cancers. Here we report on the identification of somatic internal tandem duplications (ITDs) clustering in the C terminus of BCOR in 23 of 27 (85%) pediatric clear cell sarcomas of the kidney (CCSK) from two independent cohorts. We profile CCSK tumours using a combination of whole-exome, transcriptome and targeted sequencing. Identical ITD mutations are found in primary and relapsed tumour pairs but not in adjacent normal kidney or blood. Mutant BCOR transcripts and proteins are markedly upregulated in ITD-positive tumours. Transcriptome analysis of ITD-positive CCSKs reveals enrichment for PRC2-regulated genes and similarity to undifferentiated sarcomas harbouring BCOR–CCNB3 fusions. The discovery of recurrent BCOR ITDs defines a major oncogenic event in this childhood sarcoma with significant implications for diagnostic and therapeutic approaches to this tumour., \nThe genetic basis of clear cell sarcomas of the kidney is not well understood. In this study, Roy et al. perform whole-exome and RNA sequencing of these tumours and identify recurrent internal tandem duplications in BCOR, a key constituent of a variant polycomb repressive complex.", "publicationTitle": "Nature Communications", "publisher": "", "place": "", "date": "2015-11-17", "volume": "6", "issue": "", "section": "", "partNumber": "", "partTitle": "", "pages": "", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "Nat Commun", "DOI": "10.1038/ncomms9891", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660214/", "accessDate": "2016-01-05T16:29:55Z", "PMID": "", "PMCID": "", "ISSN": "2041-1723", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "PubMed Central", "callNumber": "", "rights": "", "extra": "PMID: 26573325\nPMCID: PMC4660214", "tags": [], "collections": [ "3GBFHGR2" ], "relations": {}, "dateAdded": "2016-01-05T16:29:55Z", "dateModified": "2016-01-05T16:29:55Z" } 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"http://www.ncbi.nlm.nih.gov/pubmed/16116154", "note": "", "contentType": "text/html", "charset": "", "tags": [], "relations": {}, "dateAdded": "2015-12-22T22:04:31Z", "dateModified": "2015-12-22T22:04:31Z" } }, { "key": "QNV6HPTC", "version": 213, "library": { "type": "group", "id": 274687, "name": "Seattle Children's HemOnc Department", "links": { "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/274687/items/QNV6HPTC", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department/items/QNV6HPTC", "type": "text/html" } }, "meta": { "createdByUser": { "id": 1993581, "username": "chrislux", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/chrislux", "type": "text/html" } } }, "creatorSummary": "Schmidt et al.", "parsedDate": "2005-09-20", "numChildren": 3 }, "data": { "key": "QNV6HPTC", "version": 213, "itemType": "journalArticle", "title": "Favorable Prognosis for Patients 12 to 18 Months of Age With Stage 4 Nonamplified MYCN Neuroblastoma: A Children's Cancer Group Study", "creators": [ { "creatorType": "author", "firstName": "Mary Lou", "lastName": "Schmidt" }, { "creatorType": "author", "firstName": "Ashutosh", "lastName": "Lal" }, { "creatorType": "author", "firstName": "Robert C.", "lastName": "Seeger" }, { "creatorType": "author", "firstName": "John M.", "lastName": "Maris" }, { "creatorType": "author", "firstName": "Hiroyuki", "lastName": "Shimada" }, { "creatorType": "author", "firstName": "Maura", "lastName": "O'Leary" }, { "creatorType": "author", "firstName": "Robert B.", "lastName": "Gerbing" }, { "creatorType": "author", "firstName": "Katherine K.", "lastName": "Matthay" } ], "abstractNote": "Purpose The long-term survival of children between age 12 and 24 months with stage 4 neuroblastoma and nonamplified MYCN (MYCN-NA) has not been defined previously.\nPatients and Methods Survival for stage 4 MYCN-NA neuroblastoma patients enrolled onto Children's Cancer Group (CCG) protocols 321P2 (1986 to 1991) and 3891 (1991 to 1996) was analyzed. Treatment consisted of intensive alkylator-based induction chemotherapy with or without autologous bone marrow transplantation (ABMT) with or without 13 cis-retinoic acid. Survival was analyzed by age strata less than 12, 12 to 18, 18 to 24, and more than 24 months at diagnosis. Patients younger than 12 months were treated on the moderate-intensity CCG protocol 3881.\nResults Forty-three patients with stage 4 MYCN-NA disease enrolled onto CCG-321P2 (n = 17) or CCG-3891 (n = 26) were between 12 and 24 months of age at diagnosis. After a median follow-up of 94 months (range, 4 to 140 months), the 6-year event-free survival (EFS) for the 12- to 18-month age group was superior to that of the 18- to 24-month age group (74% ± 8% v 31% ± 12%; P = .008). The EFS for children older than 24 months with stage 4 MYCN-NA neuroblastoma was 23% ± 3%, and for children younger than 12 months was 92% ± 3%.\nConclusion Children diagnosed with stage 4 MYCN-NA neuroblastoma in the second year of life form a transitional group between infants and older children in terms of prognosis. Patients between 12 and 18 months of age have significantly better long-term survival than that of older children treated with intensive chemotherapy with or without ABMT. These patients may not benefit from additional intensification of therapy beyond that provided in earlier clinical trials and may even maintain this high survival rate with less intensive therapy.", "publicationTitle": "Journal of Clinical Oncology", "publisher": "", "place": "", "date": "09/20/2005", "volume": "23", "issue": "27", "section": "", "partNumber": "", "partTitle": "", "pages": "6474-6480", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "JCO", "DOI": "10.1200/JCO.2005.05.183", "citationKey": "", "url": "http://jco.ascopubs.org/content/23/27/6474", "accessDate": "2015-12-22T22:04:31Z", "PMID": "", "PMCID": "", "ISSN": "0732-183X, 1527-7755", "archive": "", "archiveLocation": "", "shortTitle": "Favorable Prognosis for Patients 12 to 18 Months of Age With Stage 4 Nonamplified MYCN Neuroblastoma", "language": "en", "libraryCatalog": "jco.ascopubs.org", "callNumber": "", "rights": "", "extra": "PMID: 16116154", "tags": [], "collections": [ "THQAG7UM" ], "relations": {}, "dateAdded": "2015-12-22T22:04:31Z", "dateModified": "2015-12-22T22:04:31Z" } }, { "key": "DISU3AAR", "version": 212, "library": { "type": "group", "id": 274687, "name": "Seattle Children's HemOnc Department", "links": { "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/274687/items/DISU3AAR", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department/items/DISU3AAR", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/274687/items/WCXBWWAS", "type": "application/json" } }, "meta": { "createdByUser": { "id": 1993581, "username": "chrislux", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/chrislux", "type": "text/html" } } }, "numChildren": 0 }, "data": { "key": "DISU3AAR", "version": 212, "parentItem": "WCXBWWAS", "itemType": "attachment", "linkMode": "imported_url", "title": "Schmidt et al_2000_Biologic Factors Determine Prognosis in Infants With Stage IV Neuroblastoma.pdf", "accessDate": "2015-12-22T22:03:17Z", "url": "http://jco.ascopubs.org/content/18/6/1260.full.pdf", "note": "", "contentType": "application/pdf", "charset": "", "filename": "Schmidt et al_2000_Biologic Factors Determine Prognosis in Infants With Stage IV Neuroblastoma.pdf", "md5": "45ff8a99c4264c6403e71b76116eca9b", "mtime": 1450821819429, "tags": [], "relations": {}, "dateAdded": "2015-12-22T22:03:17Z", "dateModified": "2015-12-22T22:03:40Z" } }, { "key": "BXI9TTJN", "version": 212, "library": { "type": "group", "id": 274687, "name": "Seattle Children's HemOnc Department", "links": { "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/274687/items/BXI9TTJN", "type": "application/json" }, "alternate": { "href": 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HemOnc Department", "links": { "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/274687/items/WCXBWWAS", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department/items/WCXBWWAS", "type": "text/html" } }, "meta": { "createdByUser": { "id": 1993581, "username": "chrislux", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/chrislux", "type": "text/html" } } }, "creatorSummary": "Schmidt et al.", "parsedDate": "2000-03-13", "numChildren": 3 }, "data": { "key": "WCXBWWAS", "version": 211, "itemType": "journalArticle", "title": "Biologic Factors Determine Prognosis in Infants With Stage IV Neuroblastoma: A Prospective Children’s Cancer Group Study", "creators": [ { "creatorType": "author", "firstName": "Mary Lou", "lastName": "Schmidt" }, { "creatorType": "author", "firstName": "John N.", "lastName": "Lukens" }, { "creatorType": "author", "firstName": "Robert C.", "lastName": "Seeger" }, { "creatorType": "author", "firstName": "Garrett M.", "lastName": "Brodeur" }, { "creatorType": "author", "firstName": "Hiroyuki", "lastName": "Shimada" }, { "creatorType": "author", "firstName": "Robert B.", "lastName": "Gerbing" }, { "creatorType": "author", "firstName": "Daniel O.", "lastName": "Stram" }, { "creatorType": "author", "firstName": "Carlos", "lastName": "Perez" }, { "creatorType": "author", "firstName": "Gerald M.", "lastName": "Haase" }, { "creatorType": "author", "firstName": "Katherine K.", "lastName": "Matthay" } ], "abstractNote": "PURPOSE: A prospective Children’s Cancer Group study, CCG-3881, has been completed to determine if a more accurate prediction of prognosis by biologic features can identify subgroups of infants with stage IV neuroblastoma (NBL) who require differing intensities of treatment.\nPATIENTS AND METHODS: One hundred thirty-four infants were registered from June 1989 to August 1995, with a median follow-up of 47.1 months (range, 0 to 88 months). The biologic factors examined were tumor MYCN copy number, Shimada histopathologic classification, serum ferritin, and bone marrow immunocytology (sensitivity, one tumor cell per 105 bone marrow cells). Patients treated on CCG-3881 (n = 116) received four-drug chemotherapy for 9 months (cisplatin, cyclophosphamide, doxorubicin, and etoposide), with surgery and local radiation to residual disease. After January 1991, all subsequent infants with tumor MYCN amplification (n = 18) were transferred after one cycle of therapy to the high-risk CCG-3891 protocol (open January 1991 to April 1996) for more intensive treatment.\nRESULTS: The 3-year event-free survival (EFS) and overall survival (mean ± SD) for the 134 infants were 63% ± 5% and 71% ± 5%, respectively. Patients whose tumors were without MYCN amplification had a 93% ± 4% 3-year EFS, whereas those with amplified MYCN had a 10% ± 7% 3-year EFS (P < .0001). Each of the other biologic features studied had prognostic significance in univariate analysis but not after stratifying by MYCN copy number.\nCONCLUSION: Infants less than 1 year of age at diagnosis with stage IV NBL have a much improved outcome compared with children ≥ 1 year of age. Nonamplified MYCN tumors identify a group of infants with a 93% ± 4% EFS, whereas amplified MYCN copy number clearly identifies patients who are unlikely to survive despite intensive chemotherapy.", "publicationTitle": "Journal of Clinical Oncology", "publisher": "", "place": "", "date": "03/13/2000", "volume": "18", "issue": "6", "section": "", "partNumber": "", "partTitle": "", "pages": "1260-1268", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "JCO", "DOI": "", "citationKey": "", "url": "http://jco.ascopubs.org/content/18/6/1260", "accessDate": "2015-12-22T22:03:17Z", "PMID": "", "PMCID": "", "ISSN": "0732-183X, 1527-7755", "archive": "", "archiveLocation": "", "shortTitle": "Biologic Factors Determine Prognosis in Infants With Stage IV Neuroblastoma", "language": "en", "libraryCatalog": "jco.ascopubs.org", "callNumber": "", "rights": "", "extra": "PMID: 10715296", "tags": [], "collections": [ "THQAG7UM" ], "relations": {}, "dateAdded": "2015-12-22T22:03:17Z", "dateModified": "2015-12-22T22:03:17Z" } }, { "key": "H2EVEFMN", "version": 211, "library": { "type": "group", "id": 274687, "name": "Seattle Children's HemOnc Department", "links": { "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/274687/items/H2EVEFMN", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department/items/H2EVEFMN", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/274687/items/WCXBWWAS", "type": "application/json" } }, "meta": { "createdByUser": { "id": 1993581, "username": "chrislux", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/chrislux", "type": "text/html" } } } }, "data": { "key": "H2EVEFMN", "version": 211, "parentItem": "WCXBWWAS", "itemType": "attachment", "linkMode": "linked_url", "title": "PubMed entry", "accessDate": "2015-12-22T22:03:17Z", "url": "http://www.ncbi.nlm.nih.gov/pubmed/10715296", "note": "", "contentType": "text/html", "charset": "", "tags": [], "relations": {}, "dateAdded": "2015-12-22T22:03:17Z", "dateModified": "2015-12-22T22:03:17Z" } }, { "key": "WEKZHVHK", "version": 208, "library": { "type": "group", "id": 274687, "name": "Seattle Children's HemOnc Department", "links": { "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/274687/items/WEKZHVHK", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department/items/WEKZHVHK", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/274687/items/Q34DMGZP", "type": "application/json" } }, "meta": { "createdByUser": { "id": 1993581, "username": "chrislux", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/chrislux", "type": "text/html" } } }, "numChildren": 0 }, "data": { "key": "WEKZHVHK", "version": 208, "parentItem": "Q34DMGZP", "itemType": "attachment", "linkMode": "imported_url", "title": "Koren et al. - 1990 - Systemic Exposure to Mercaptopurine as a Prognosti.pdf", "accessDate": "2015-12-18T15:47:55Z", "url": "http://www.nejm.org/doi/pdf/10.1056/NEJM199007053230104", "note": "", "contentType": "application/pdf", "charset": "", "filename": "Koren et al. - 1990 - Systemic Exposure to Mercaptopurine as a Prognosti.pdf", "md5": "f0b7316f74ddc0e3b44de63f34489a3b", "mtime": 1450453680598, "tags": [], "relations": {}, "dateAdded": "2015-12-18T15:47:55Z", "dateModified": "2015-12-18T15:49:07Z" } }, { "key": "QHXAWGZA", "version": 207, "library": { "type": "group", "id": 274687, "name": "Seattle Children's HemOnc Department", "links": { "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/274687/items/QHXAWGZA", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department/items/QHXAWGZA", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/274687/items/Q34DMGZP", "type": "application/json" } }, "meta": { "createdByUser": { "id": 1993581, "username": "chrislux", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/chrislux", "type": "text/html" } } }, "numChildren": 0 }, "data": { "key": "QHXAWGZA", "version": 207, "parentItem": "Q34DMGZP", "itemType": "note", "note": "

Julie Rivers found article mentioned on ASPHO forums about pancreatitis and 6MP

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However, despite a success rate of more than 90 percent in inducing remission, 30 to 40 percent of children relapse while receiving maintenance therapy. Such patients are much more likely to die of their disease.1 Patients with acute lymphocytic leukemia can be classified according to their prognosis as being at low, standard, or high risk of relapse (Table 1). In many centers, maintenance therapy for children at low or standard risk (Table 1) consists of a daily oral dose . . .", "publicationTitle": "New England Journal of Medicine", "publisher": "", "place": "", "date": "July 5, 1990", "volume": "323", "issue": "1", "section": "", "partNumber": "", "partTitle": "", "pages": "17-21", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "", "DOI": "10.1056/NEJM199007053230104", "citationKey": "", "url": "http://dx.doi.org/10.1056/NEJM199007053230104", "accessDate": "2015-12-18T15:47:55Z", "PMID": "", "PMCID": "", "ISSN": "0028-4793", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "Taylor and Francis+NEJM", "callNumber": "", "rights": "", "extra": "PMID: 2355954", "tags": [], "collections": [ "IQV7UGMF" ], "relations": {}, "dateAdded": "2015-12-18T15:47:55Z", "dateModified": "2015-12-18T15:47:55Z" } }, { "key": "NU27BE9U", "version": 206, "library": { "type": "group", "id": 274687, "name": "Seattle Children's HemOnc Department", "links": { "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/274687/items/NU27BE9U", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/seattle_childrens_hemonc_department/items/NU27BE9U", "type": "text/html" }, "up": { "href": "https://api.zotero.org/groups/274687/items/ME2MZ7C5", "type": "application/json" } }, "meta": { "createdByUser": { "id": 1993581, "username": "chrislux", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/chrislux", "type": "text/html" } } }, "numChildren": 0 }, "data": { "key": "NU27BE9U", "version": 206, "parentItem": "ME2MZ7C5", "itemType": "attachment", "linkMode": "imported_url", "title": "PubMed Central Full Text PDF", "accessDate": "2015-12-18T15:43:36Z", "url": "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3691940/pdf/djs503.pdf", "note": "", "contentType": "application/pdf", "charset": "", "filename": "Gamazon et al. - 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