title: Juxtaglomerular cell tumor: a morphological, immunohistochemical and genetic study of six cases.
abstract: 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.
authors.affiliation: Department of Diagnostic Pathology, Kochi Red Cross Hospital, Kochi 780-8562, Japan.
authors.forename: Naoto
authors.initials: N
authors.lastname: Kuroda
authors.forename: Sperga
authors.initials: S
authors.lastname: Maris
authors.forename: Federico A
authors.initials: FA
authors.lastname: Monzon
authors.forename: Puay Hoon
authors.initials: PH
authors.lastname: Tan
authors.forename: Anjula
authors.initials: A
authors.lastname: Thomas
authors.forename: Fredrik B
authors.initials: FB
authors.lastname: Petersson
authors.forename: Zoran
authors.initials: Z
authors.lastname: Gatalica
authors.forename: Anatole
authors.initials: A
authors.lastname: Ghazalpour
authors.forename: Ryan P
authors.initials: RP
authors.lastname: Bender
authors.forename: Petr
authors.initials: P
authors.lastname: Grossmann
authors.forename: Michal
authors.initials: M
authors.lastname: Michal
authors.forename: Marian
authors.initials: M
authors.lastname: Svajdler
authors.forename: Zdenka
authors.initials: Z
authors.lastname: Ovcak
authors.forename: Milan
authors.initials: M
authors.lastname: Hora
authors.forename: Ondrej
authors.initials: O
authors.lastname: Hes
mesh_terms: D000328:Adult; D003594:Cytoplasmic Granules / Q000235:genetics / Q000473:pathology / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007606:Juxtaglomerular Apparatus / Q000737:chemistry / Q000378:metabolism / Q000473:pathology*; D007621:Karyotyping; D008297:Male; D019009:Proto-Oncogene Proteins c-kit / Q000737:chemistry / Q000235:genetics / Q000648:ultrastructure; D012083:Renin / Q000737:chemistry / Q000235:genetics / Q000648:ultrastructure; D055815:Young Adult; D051176:beta Catenin / Q000737:chemistry / Q000235:genetics / Q000648:ultrastructure
chemical_list: D051176:beta Catenin; D019009:Proto-Oncogene Proteins c-kit; D012083:Renin