Unclassified renal cell carcinoma with tubulopapillary architecture, clear cell phenotype, and chromosome 8 monosomy: a new kid on the block.
Accurate subtyping of renal cell carcinomas (RCCs) has become clinically important for therapy and prognostication. RCC subtypes are defined by distinct morphologic and immunohistochemical profiles, and in some instances recurrent cytogenetic and molecular properties. However, some tumors exhibit ov...
| Publicado en: | Virchows Archiv: European Journal of Pathology Vol. 469; no. 1; pp. 81 - 92 |
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| Autores principales: | , , , , , , , , , , , |
| Formato: | Journal Article |
| Publicado: |
Springer Nature
Jul2016
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=116415193&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 116415193 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 09456317 O1Z jtl: Virchows Archiv: European Journal of Pathology issn: 09456317 maglogo: N pubinfo: dt: Jul2016 vid: 469 iid: 1 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 116415193 116415193 NLM27173781 10.1007/s00428-016-1952-7 NLM27173781 116415193 ppf: 81 ppct: 11 formats: fmt: @attributes: type: P tig: atl: Unclassified renal cell carcinoma with tubulopapillary architecture, clear cell phenotype, and chromosome 8 monosomy: a new kid on the block. aug: au: Lan, Thanh Keller-Ramey, Jennifer Fitzpatrick, Carrie Kadri, Sabah Taxy, Jerome Segal, Jeremy Furtado, Larissa Antic, Tatjana Lan, Thanh T H Taxy, Jerome B Segal, Jeremy P Furtado, Larissa V affil: Department of Pathology, The University of Chicago, 5841 S. Maryland Avenue Chicago 60637 USA sug: subj: Chromosome Disorders Pathology Chromosomes Carcinoma, Renal Cell Pathology Carcinoma, Renal Cell Mutation Aged Carcinoma, Renal Cell Metabolism Chromosome Disorders In Situ Hybridization, Fluorescence Methods Middle Age Female Phenotype Male Aged, 80 and Over Adult Aged: 65+ years Middle Aged: 45-64 years Aged, 80 & over Adult: 19-44 years Female Male ab: Accurate subtyping of renal cell carcinomas (RCCs) has become clinically important for therapy and prognostication. RCC subtypes are defined by distinct morphologic and immunohistochemical profiles, and in some instances recurrent cytogenetic and molecular properties. However, some tumors exhibit overlapping morphologic and immunophenotypic features, frequent enough to pose diagnostic dilemmas. This report concerns six histologically unusual RCCs that showed tubulopapillary architecture, clear cell phenotype, and non-diagnostic immunohistochemical profiles. Further investigation of these tumors utilized a single nucleotide polymorphism (SNP) microarray platform (OncoScan®, Affymetrix) that employed molecular inversion probe (MIP) technology to investigate genome-wide chromosomal copy number changes and loss of heterozygosity in formalin-fixed paraffin-embedded sections. The six tumors were assayed in parallel with and in comparison to RCC with typical morphologic or immunohistochemical features for a specific subtype (clear cell, clear cell papillary, and microphthalmia transcription factor (MiT) family translocation RCC). Three of the unusual RCCs showed a molecular signature of clear cell RCC and one of papillary RCC. The remaining two showed monosomy of chromosome 8. Those two cases were tested via next-generation sequencing, and no pathogenic variants were detected, including those in the genes VHL, PBRM1, SETD2, KDM5C, or BAP1. The addition of molecular investigations such as reported here as applied to histologically and immunohistochemically unusual RCC may help to define additional subtypes and contribute to the development of targeted therapy for renal cancer. pubtype: Academic Journal doctype: Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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