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"otype" : "Journal", "mtid" : 10011295, "link" : "/api/journal/10011295", "label" : "ANNALS OF DIAGNOSTIC PATHOLOGY 1092-9134 1532-8198", "pIssn" : "1092-9134", "eIssn" : "1532-8198", "reviewType" : "REVIEWED", "noIF" : false, "sciIndexed" : true, "scopusIndexed" : true, "lang" : "FOREIGN", "hungarian" : false, "published" : true, "oldId" : 10011295, "snippet" : true }, "volume" : "39", "firstPage" : "63", "lastPage" : "68", "firstPageOrInternalIdForSort" : "63", "pageLength" : 6, "publishedYear" : 2019, "abstractText" : "Hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinoma (HLRCC)/fumarate hydratase deficient renal cell carcinoma (FHRCC) is defined by molecular genetic changes (mutation/LOH in fumarate hydratase (FH) gene). We investigated chromosomal numerical aberration pattern (CNV) in FHRCC/HLRCC using array comparative genomic hybridization analysis and low pass whole genome sequencing. Genetic analysis was successfully completed in 12 tumors. Most common chromosomal aberrations detected were a complete or partial loss of chromosome 4 (5/12 cases), chromosome 15 (4/12 cases), and chromosomes 9, 13, and 14 (each in 3/12 cases), as well as a complete or partial gain of chromosome 17 (in 4/12 cases). No chromosomal losses or gains were detected in 4 cases. Copy number variation pattern in FHRCC/HLRCC appears to be highly variable and does not provide a useful diagnostic tool in identifying these cases. Immunohistochemical staining and especially molecular genetic evaluation of FH gene mutations/LOH remain the gold standard in identifying FHRCC/HLRCC.", "digital" : null, "printed" : null, "sourceYear" : 2020, "foreignEdition" : true, "foreignLanguage" : true, "fullPublication" : true, "conferencePublication" : false, "nationalOrigin" : null, "missingAuthor" : false, "oaType" : "NONE", "oaCheckDate" : "2024-03-12", "oaFree" : false, "citationCount" : 12, "citationCountUnpublished" : 0, "citationCountWoOther" : 12, "independentCitCountWoOther" : 9, "nationalOriginCitationCount" : 1, "foreignEditionCitationCount" : 11, "doiCitationCount" : 10, "wosCitationCount" : 12, "scopusCitationCount" : 11, "wosScopusCitationCount" : 12, "wosScopusCitationCountWoOther" : 12, "wosScopusIndependentCitationCount" : 9, "wosScopusIndependentCitationCountWoOther" : 9, "independentCitationCount" : 9, "selfCitationCount" : 3, "unhandledCitationCount" : 0, "citingPubCount" : 12, "independentCitingPubCount" : 9, "citingPubCountWoOther" : 12, "independentCitingPubCountWoOther" : 9, "unhandledCitingPubCount" : 0, "citedPubCount" : 0, "citedCount" : 0, "pubStats" : { "types" : [ { "type" : "Folyóiratcikk", "typeEng" : "Journal Article", "code" : 24, "count" : 12 }, { "type" : "Könyvrészlet", "typeEng" : "Chapter in Book", "code" : 25, "count" : 0 }, { "type" : "Könyv", "typeEng" : "Book", "code" : 23, "count" : 0 }, { "type" : "Egyéb konferenciaközlemény", "typeEng" : "Conference paper", "code" : 31, "count" : 0 }, { "type" : "Egyéb konferenciakötet", "typeEng" : "Conference proceedings", "code" : 32, "count" : 0 }, { "type" : "Oltalmi formák", "typeEng" : "Protection forms", "code" : 26, "count" : 0 }, { "type" : "Disszertáció", "typeEng" : "Thesis", "code" : 28, "count" : 0 }, { "type" : "Egyéb", "typeEng" : "Miscellaneous", "code" : 29, "count" : 0 }, { "type" : "Alkotás", "typeEng" : "Achievement", "code" : 22, "count" : 0 }, { "type" : "Kutatási adat", "typeEng" : "Research data", "code" : 33, "count" : 0 } ], "citationTypes" : [ { "type" : "Folyóiratcikk", "typeEng" : "Journal Article", "code" : 24, "countUnknown" : 0, "countIndependent" : 0, "countSelfCitation" : 0 }, { "type" : "Könyvrészlet", "typeEng" : "Chapter in Book", "code" : 25, "countUnknown" : 0, "countIndependent" : 0, "countSelfCitation" : 0 }, { "type" : "Könyv", "typeEng" : "Book", "code" : 23, "countUnknown" : 0, "countIndependent" : 0, "countSelfCitation" : 0 }, { "type" : "Egyéb konferenciaközlemény", "typeEng" : "Conference paper", "code" : 31, "countUnknown" : 0, "countIndependent" : 0, "countSelfCitation" : 0 }, { "type" : "Egyéb konferenciakötet", "typeEng" : "Conference proceedings", "code" : 32, "countUnknown" : 0, "countIndependent" : 0, "countSelfCitation" : 0 }, { "type" : "Oltalmi formák", "typeEng" : "Protection forms", "code" : 26, "countUnknown" : 0, "countIndependent" : 0, "countSelfCitation" : 0 }, { "type" : "Disszertáció", "typeEng" : "Thesis", "code" : 28, "countUnknown" : 0, "countIndependent" : 0, "countSelfCitation" : 0 }, { "type" : "Egyéb", "typeEng" : "Miscellaneous", "code" : 29, "countUnknown" : 0, "countIndependent" : 0, "countSelfCitation" : 0 }, { "type" : "Alkotás", "typeEng" : "Achievement", "code" : 22, "countUnknown" : 0, "countIndependent" : 0, "countSelfCitation" : 0 }, { "type" : "Kutatási adat", "typeEng" : "Research data", "code" : 33, "countUnknown" : 0, "countIndependent" : 0, "countSelfCitation" : 0 } ], "years" : [ { "year" : 2019, "publicationCount" : 0, "citationCount" : 2, "independentCitationCount" : 2, "citingPubCount" : 2, "independentCitingPubCount" : 2, "oaStats" : null, "oaStats2" : null }, { "year" : 2020, "publicationCount" : 0, "citationCount" : 4, "independentCitationCount" : 1, "citingPubCount" : 4, "independentCitingPubCount" : 1, "oaStats" : null, "oaStats2" : null }, { "year" : 2021, "publicationCount" : 0, "citationCount" : 5, "independentCitationCount" : 5, "citingPubCount" : 5, "independentCitingPubCount" : 5, "oaStats" : null, "oaStats2" : null }, { "year" : 2022, "publicationCount" : 0, "citationCount" : 0, "independentCitationCount" : 0, "citingPubCount" : 0, "independentCitingPubCount" : 0, "oaStats" : null, "oaStats2" : null }, { "year" : 2023, "publicationCount" : 0, "citationCount" : 1, "independentCitationCount" : 1, "citingPubCount" : 1, "independentCitingPubCount" : 1, "oaStats" : null, "oaStats2" : null } ] }, "ratings" : [ { "otype" : "SjrRating", "mtid" : 10993060, "link" : "/api/sjrrating/10993060", "label" : "sjr:Q2 (2019) Scopus - 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