PMID- 22939575 OWN - NLM STAT- MEDLINE DCOM- 20130204 LR - 20121211 IS - 1532-8392 (Electronic) IS - 0046-8177 (Linking) VI - 44 IP - 1 DP - 2013 Jan TI - Juxtaglomerular cell tumor: a morphological, immunohistochemical and genetic study of six cases. PG - 47-54 LID - S0046-8177(12)00143-8 [pii] LID - 10.1016/j.humpath.2012.04.006 [doi] AB - 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, alpha-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. CI - Copyright (c) 2013 Elsevier Inc. All rights reserved. FAU - Kuroda, Naoto AU - Kuroda N AD - Department of Diagnostic Pathology, Kochi Red Cross Hospital, Kochi 780-8562, Japan. FAU - Maris, Sperga AU - Maris S FAU - Monzon, Federico A AU - Monzon FA FAU - Tan, Puay Hoon AU - Tan PH FAU - Thomas, Anjula AU - Thomas A FAU - Petersson, Fredrik B AU - Petersson FB FAU - Gatalica, Zoran AU - Gatalica Z FAU - Ghazalpour, Anatole AU - Ghazalpour A FAU - Bender, Ryan P AU - Bender RP FAU - Grossmann, Petr AU - Grossmann P FAU - Michal, Michal AU - Michal M FAU - Svajdler, Marian AU - Svajdler M FAU - Ovcak, Zdenka AU - Ovcak Z FAU - Hora, Milan AU - Hora M FAU - Hes, Ondrej AU - Hes O LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20120829 PL - United States TA - Hum Pathol JT - Human pathology JID - 9421547 RN - 0 (beta Catenin) RN - EC 2.7.10.1 (Proto-Oncogene Proteins c-kit) RN - EC 3.4.23.15 (Renin) SB - IM MH - Adult MH - Cytoplasmic Granules/genetics/pathology/ultrastructure MH - Female MH - Humans MH - Immunohistochemistry MH - Juxtaglomerular Apparatus/chemistry/metabolism/*pathology MH - Karyotyping MH - Male MH - Proto-Oncogene Proteins c-kit/chemistry/genetics/ultrastructure MH - Renin/chemistry/genetics/ultrastructure MH - Young Adult MH - beta Catenin/chemistry/genetics/ultrastructure EDAT- 2012/09/04 06:00 MHDA- 2013/02/05 06:00 CRDT- 2012/09/04 06:00 PHST- 2012/02/09 00:00 [received] PHST- 2012/04/11 00:00 [revised] PHST- 2012/04/11 00:00 [accepted] PHST- 2012/09/04 06:00 [entrez] PHST- 2012/09/04 06:00 [pubmed] PHST- 2013/02/05 06:00 [medline] AID - S0046-8177(12)00143-8 [pii] AID - 10.1016/j.humpath.2012.04.006 [doi] PST - ppublish SO - Hum Pathol. 2013 Jan;44(1):47-54. doi: 10.1016/j.humpath.2012.04.006. Epub 2012 Aug 29.