Comparative genomic analysis of intracranial germ cell tumors – the preliminary study focused on Sonic Hedgehog signaling pathway

Dominika Kuleszo; Magdalena Koczkowska; Beata S. Lipska-Ziętkiewicz; Wiesława Grajkowska; Elżbieta Adamkiewicz-Drożyńska; Bożenna Dembowska-Bagińska; Maciej Ciołkowski; Ewa Iżycka-Świeszewska

doi:10.5114/wo.2017.72390

eISSN: 1897-4309
ISSN: 1428-2526

Contemporary Oncology/Współczesna Onkologia

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4/2017
vol. 21

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abstract:

Original paper

Comparative genomic analysis of intracranial germ cell tumors – the preliminary study focused on Sonic Hedgehog signaling pathway

Dominika Kuleszo

,

Magdalena Koczkowska

,

Beata S. Lipska-Ziętkiewicz

,

Wiesława Grajkowska

,

Elżbieta Adamkiewicz-Drożyńska

,

Bożenna Dembowska-Bagińska

,

Maciej Ciołkowski

,

Ewa Iżycka-Świeszewska

Contemp Oncol (Pozn) 2017; 21 (4): 279-284

DOI: https://doi.org/10.5114/wo.2017.72390

Online publish date: 2017/12/30

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AMA

Kuleszo D, Koczkowska M, Lipska-Ziętkiewicz B, et al. Comparative genomic analysis of intracranial germ cell tumors – the preliminary study focused on Sonic Hedgehog signaling pathway. Contemporary Oncology/Współczesna Onkologia. 2017;21(4):279-284. doi:10.5114/wo.2017.72390.

APA

Kuleszo, D., Koczkowska, M., Lipska-Ziętkiewicz, B., Grajkowska, W., Adamkiewicz-Drożyńska, E.,  & Dembowska-Bagińska, B. et al. (2017). Comparative genomic analysis of intracranial germ cell tumors – the preliminary study focused on Sonic Hedgehog signaling pathway. Contemporary Oncology/Współczesna Onkologia, 21(4), 279-284. https://doi.org/10.5114/wo.2017.72390

Chicago

Kuleszo, Dominika, Magdalena Koczkowska, Beata S. Lipska-Ziętkiewicz, Wiesława Grajkowska, Elżbieta Adamkiewicz-Drożyńska, Bożenna Dembowska-Bagińska,  and Maciej Ciołkowski et al. 2017. "Comparative genomic analysis of intracranial germ cell tumors – the preliminary study focused on Sonic Hedgehog signaling pathway". Contemporary Oncology/Współczesna Onkologia 21 (4): 279-284. doi:10.5114/wo.2017.72390.

Harvard

Kuleszo, D., Koczkowska, M., Lipska-Ziętkiewicz, B., Grajkowska, W., Adamkiewicz-Drożyńska, E., Dembowska-Bagińska, B., Ciołkowski, M.,  and Iżycka-Świeszewska, E. (2017). Comparative genomic analysis of intracranial germ cell tumors – the preliminary study focused on Sonic Hedgehog signaling pathway. Contemporary Oncology/Współczesna Onkologia, 21(4), pp.279-284. https://doi.org/10.5114/wo.2017.72390

MLA

Kuleszo, Dominika et al. "Comparative genomic analysis of intracranial germ cell tumors – the preliminary study focused on Sonic Hedgehog signaling pathway." Contemporary Oncology/Współczesna Onkologia, vol. 21, no. 4, 2017, pp. 279-284. doi:10.5114/wo.2017.72390.

Vancouver

Kuleszo D, Koczkowska M, Lipska-Ziętkiewicz B, Grajkowska W, Adamkiewicz-Drożyńska E, Dembowska-Bagińska B et al. Comparative genomic analysis of intracranial germ cell tumors – the preliminary study focused on Sonic Hedgehog signaling pathway. Contemporary Oncology/Współczesna Onkologia. 2017;21(4):279-284. doi:10.5114/wo.2017.72390.

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Aim of the study: Examination of copy number changes in a group of intracranial germ cell tumors (GCTs) with particular focus on putative aberrations of the main genes coding SHh pathway proteins.

Material and methods: The study was performed on DNA isolated from fresh-frozen tumor tissue samples from eight GCTs, including six intracranial GCTs. The intracranial group consisted of three germinomas, two mature teratomas and one mixed germ cell tumor. Comparative genomic profiling analysis was carried out using microarray-CGH method (Cytosure ISCA UPD 4×180k, OGT). The results were analyzed with Feature Extraction (Agilent Technologies) and Nexus Copy Number (BioDiscovery) softwares.

Results and conclusions: Chromosomal aberrations were found in two intracranial germinomas. These tumors were characterized by complex genomic profiles encompassing chromosomes 7, 8, 9, 10, 11, 12, 16, 17 and 19. Common findings were gain at 12p13.33p11.1 of 35 Mbp and gain at 17q11.1q25.3 of 55 Mbp. In one tumor, also SHh (7q36.3), SMO (7q32.1) and GLI3 (7p14.1) copy gains occurred together with 9q21.11q34.3 loss, including PTCH1, all being elements of SHh signaling pathway. Moreover, both tumors showed various copy gain of genes being ligands, regulators, receptors or target genes of SHh (MTSS1; PRKACA and FKBP8) as well as gain of genes of SHh coopting WNT pathway (WNT3, WNT5B, WNT9B in both tumors; WNT16, WNT2 in pineal lesion). Further studies on larger group are needed to characterize SHh-related gene alterations in intracranial GCTs and for searching genotype-phenotype relations.

keywords:

Comparative genomic analysis of intracranial germ cell tumors – the preliminary study focused on Sonic Hedgehog signaling pathway

Dominika Kuleszo , Magdalena Koczkowska , Beata S. Lipska-Ziętkiewicz , Wiesława Grajkowska , Elżbieta Adamkiewicz-Drożyńska , Bożenna Dembowska-Bagińska , Maciej Ciołkowski , Ewa Iżycka-Świeszewska

intracranial germ cell tumors, germinoma, array-CGH, Sonic Hed­ge­hog signaling

Dominika Kuleszo

,

Magdalena Koczkowska

,

Beata S. Lipska-Ziętkiewicz

,

Wiesława Grajkowska

,

Elżbieta Adamkiewicz-Drożyńska

,

Bożenna Dembowska-Bagińska

,

Maciej Ciołkowski

,

Ewa Iżycka-Świeszewska

intracranial germ cell tumors, germinoma, array-CGH, Sonic Hedgehog signaling