Pregled bibliografske jedinice broj: 611130
Extraskeletal myxoid chondrosarcoma of the vulva with PLAG1 gene activation : Molecular genetic characterization of two cases
Extraskeletal myxoid chondrosarcoma of the vulva with PLAG1 gene activation : Molecular genetic characterization of two cases // Applied immunohistochemistry & molecular morphology, 22 (2014), 7; 537-542 (međunarodna recenzija, članak, znanstveni)
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Naslov
Extraskeletal myxoid chondrosarcoma of the vulva with PLAG1 gene activation : Molecular genetic characterization of two cases
Autori
Dotlić, Snježana ; Gatalica, Zoran ; Wen, Wenhsiang ; Ghazalpour, Anatole ; Mangham, Chas ; Babić, Damir ; Zekan, Joško ; Vranić, Semir
Izvornik
Applied immunohistochemistry & molecular morphology (1541-2016) 22
(2014), 7;
537-542
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
Vulva; mesenchymal tumors; extraskeletal myxoid chondrosarcoma; translocations; fusion transcripts.
Sažetak
Extraskeletal myxoid chondrosarcoma (EMC) is a rare mesenchymal neoplasm, rarely reported in the genitourinary tract with only 5 cases reported in the vulva. We investigated 2 cases of vulvar sarcomas whose morphologic appearance and immunohistochemical profiles were consistent with EMC using fluorescence in situ hybridization (FISH), reverse-transcription polymerase chain reaction, and a whole genome expression array. FISH and reverse-transcription polymerase chain reaction assays showed no EWSR1 and NR4A3 loci rearrangements. Microarray-based analysis also revealed no changes in NR4A3 and EWSR1 gene transcription levels. Microarray data showed a significant downregulation of the muscle-related genes (eg, myosin heavy chain family, actins, myoglobin, desmin, creatine kinase, troponins) and cytokeratins (KRT6A, 6B, 13, 14, and 78), upregulation of several neuron-specific genes [neural cell adhesion molecule 1 (NCAM-1/CD56), neurofilament (NEFH)], along with some well-characterized tumor biomarkers [carbonic anhydrase IX (CA-9), topoisomerase IIα (TOP2A), matrix metalloproteinases (MMP-7, MMP-9), CDKN2 gene (p16-INK4a), checkpoint homolog 2 (CHEK2)]. Notably, both tumors showed upregulation of the pleomorphic adenoma gene 1 (PLAG1), and in 1 case PLAG1 gene rearrangement was detected by break-apart FISH. Some vulvar tumors with morphologic and immunohistochemical characteristics of EMC may represent a molecular genetic entity separate from EMCs arising in other locations. PLAG1 gene activation appears to be involved in the development of these neoplasms.
Izvorni jezik
Engleski
