Juxtaglomerular cell tumor: A morphological, immunohistochemical and genetic study of six cases

Summary Juxtaglomerular cell tumors (JGCTs) are rare tumors characterized by renin synthesis, hyperaldosteronism and hypertension. A curious immunohistochemical overlap between JGCT and gastrointestinal stromal tumor (GIST) including the expression of vimentin, CD34, CD117, α-smooth muscle actin was...

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Published in:	Human pathology 2013, Vol.44 (1), p.47-54
Main Authors:	Kuroda, Naoto, MD, Maris, Sperga, MD, Monzon, Federico A., MD, Tan, Puay Hoon, MD, FRCPA, Thomas, Anjula, MD, Petersson, Fredrik B., MD, PhD, Gatalica, Zoran, MD, DSc, Ghazalpour,, Anatole, PhD, Bender,, Ryan P., PhD, Grossmann, Petr, MSc, Michal, Michal, MD, Svajdler, Marian, MD, Ovcak, Zdenka, MD, Hora, Milan, MD, PhD, Hes, Ondrej, MD, PhD
Format:	Article
Language:	eng
Subjects:	Adult beta Catenin - chemistry beta Catenin - genetics beta Catenin - ultrastructure Chromosomes Cytoplasmic Granules - genetics Cytoplasmic Granules - pathology Cytoplasmic Granules - ultrastructure Female Fluorescence in situ hybridization Genomes Humans Immunohistochemistry Juxtaglomerular Apparatus - chemistry Juxtaglomerular Apparatus - metabolism Juxtaglomerular Apparatus - pathology Juxtaglomerular cell tumor Karyotyping Kinases Male Pathogenesis Pathology Proteins Proto-Oncogene Proteins c-kit - chemistry Proto-Oncogene Proteins c-kit - genetics Proto-Oncogene Proteins c-kit - ultrastructure Renin - chemistry Renin - genetics Renin - ultrastructure Smooth muscle Virtual karyotyping Whole genome expression array Young Adult
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Summary:	Summary Juxtaglomerular cell tumors (JGCTs) are rare tumors characterized by renin synthesis, hyperaldosteronism and hypertension. A curious immunohistochemical overlap between JGCT and gastrointestinal stromal tumor (GIST) including the expression of vimentin, CD34, CD117, α-smooth muscle actin was previously reported, prompting us to further investigate JGCT and its phenotypic and molecular genetic characteristics. Virtual karyotyping showed gain of chromosomes 3, 4, 10, 13, 17 and 18 in one JGCT, and fluorescence in situ hybridization (FISH) study confirmed this multiple gain pattern. Additionally, loss of chromosome 9 was observed in four of six cases analyzed with FISH. A whole genome expression analysis revealed 415 up-regulated (including renin, and CD117) and 325 down-regulated genes between the 2 cases. The study confirmed earlier reports on the gain of chromosomes 4 and 10, and provided further evidence of up-regulation of the genes located on these 2 chromosomes. For the first time our study indicated the importance of the loss of chromosome 9 and loss of expression of several tumor suppressor genes located on this chromosome as possible pathogenetic events important in development of JGCT.
ISSN:	0046-8177 1532-8392