Data_Sheet_1_Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report.PDF (669.27 kB)

Data_Sheet_1_Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report.PDF

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posted on 19.08.2020 by Kirill Igorevich Anoshkin, Kristina Olegovna Karandasheva, Kristina Mikhaylovna Goryacheva, Denis Valer’yevich Pyankov, Philipp Aleksandrovich Koshkin, Tatiana Vladimirovna Pavlova, Alexandr Nikolaevich Bobin, Evgeniy Valer’yevich Shpot, Yaroslav Nikolayevich Chernov, Andrei Zinov’yevich Vinarov, Dmitry Vladimirovich Zaletaev, Sergei Ivanovich Kutsev, Vladimir Viktorovich Strelnikov

We present the genetic profile of kidney giant leiomyosarcoma characterized by sequencing of 409 cancer related genes and chromosomal microarray analysis. Renal leiomyosarcomas are extremely rare neoplasms with aggressive behavior and poor survival prognosis. Most frequent somatic events in leiomyosarcomas are mutations in the TP53, RB1, ATRX, and PTEN genes, chromosomal instability (CIN) and chromoanagenesis. 67-year-old woman presented with a right kidney completely replaced by tumor. Immunohistochemical reaction on surgical material was positive to desmin and smooth muscle actin. Molecular genetic analysis revealed that tumor harbored monosomy of chromosomes 3 and 11, gain of Xp (ATRX) arm and three chromoanasynthesis regions (6q21-q27, 7p22.3-p12.1, and 12q13.11-q21.2), with MDM2 and CDK4 oncogenes copy number gains, whereas no copy number variations (CNVs) or tumor specific single nucleotide variants (SNVs) in TP53, RB1, and PTEN genes were present. We hypothesize that chromoanasynthesis in 12q13.11-q21.2 could be a trigger of observed CIN in this tumor.

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