title: Acquired cystic disease-associated renal cell carcinoma: an immunohistochemical and fluorescence in situ hybridization study.
abstract: Acquired cystic disease (ACD)-associated renal cell carcinoma (RCC) has been recently identified. However, there are only a few genetic studies to date. In this article, we performed an immunohistochemical and fluorescence in situ hybridization (FISH) study for six cases including one case with sarcomatoid change. As a result, we observed frequent immunohistochemical expression of AMACR. FISH of chromosome 3 showed trisomy for three cases, monosomy for two cases, and disomy for one case. Additionally, FISH of chromosome 16 showed trisomy for three cases, monosomy for two cases, and both trisomy and monosomy for one case. Furthermore, both the carcinomatous area and the sarcomatoid area of one ACD-associated RCC with sarcomatoid change revealed monosomy of chromosomes 3, 9, and 16 but showed disomy of chromosome 14. In conclusion, the numerical abnormalities of chromosomes 3 and 16, irrespective of gain or loss, may be characteristic of ACD-associated RCC.
authors.affiliation: Department of Diagnostic Pathology, Kochi Red Cross Hospital, Shin-honmachi, Kochi, Japan. kurochankochi@yahoo.co.jp
authors.forename: Naoto
authors.initials: N
authors.lastname: Kuroda
authors.forename: Motoki
authors.initials: M
authors.lastname: Yamashita
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Kakehi
authors.forename: Ondrej
authors.initials: O
authors.lastname: Hes
authors.forename: Michal
authors.initials: M
authors.lastname: Michal
authors.forename: Gang-Hong
authors.initials: GH
authors.lastname: Lee
mesh_terms: D000328:Adult; D000368:Aged; D000782:Aneuploidy; D002292:Carcinoma, Renal Cell / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D053552:Keratin-7 / Q000378:metabolism; D052177:Kidney Diseases, Cystic / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D007680:Kidney Neoplasms / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000378:metabolism; D051762:PAX2 Transcription Factor / Q000378:metabolism; D019998:Racemases and Epimerases / Q000378:metabolism
chemical_list: D053552:Keratin-7; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D019998:Racemases and Epimerases; C108352:alpha-methylacyl-CoA racemase