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Immunohistochemical and molecular genetic profiling of acquired cystic disease‐associated renal cell carcinoma
Author(s) -
Pan ChinChen,
Chen YannJang,
Chang LiangChe,
Chang YenHwa,
Ho Donald MT
Publication year - 2009
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/j.1365-2559.2009.03361.x
Subject(s) - fluorescence in situ hybridization , immunohistochemistry , pathology , cytokeratin , renal cell carcinoma , biology , comparative genomic hybridization , kidney disease , medicine , chromosome , genetics , gene , endocrinology
Aims: Acquired cystic disease‐associated renal cell carcinoma (ACD‐associated RCC) is a unique neoplasm that specifically develops in the background of acquired cystic disease of the kidney. The aim was to analyse nine ACD‐associated RCCs from three patients to determine their immunohistochemical and molecular characteristics using immunohistochemistry, comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) . Methods and results: ACD‐associated RCC preferentially expressed proximal nephron phenotype (CD10+/RCC marker+/α‐methylacyl‐CoA racemase+/glutathione S‐transferase‐α+/BerEP4+/cytokeratin 7–/E‐cadherin–/high‐molecular‐weight cytokeratin−/MOC31−). CGH combined with FISH demonstrated non‐random chromosomal gains clustering on chromosomes 3 (8/9), 7 (6/9), 16 (7/9), 17 (4/9) and Y (5/9). Chromosomal losses were uncommon. The chromosomal aberrations in all multifocal tumours were not identical for the same kidney or for the same patient, indicating a ‘field effect’ that induces multiple independent clones. Conclusions: Although the genetic profiles of ACD‐associated RCC showed some similarity to those of papillary RCC, ACD‐associated RCC distinctly revealed frequent gains on chromosomes 3 and Y. ACD‐associated RCC is characterized not only by its particular clinical setting and histology, but also by its unique immunohistochemical and molecular genetic profiles.