AUTHOR=Anoshkin Kirill Igorevich , Karandasheva Kristina Olegovna , Goryacheva Kristina Mikhaylovna , Pyankov Denis Valer’yevich , Koshkin Philipp Aleksandrovich , Pavlova Tatiana Vladimirovna , Bobin Alexandr Nikolaevich , Shpot Evgeniy Valer’yevich , Chernov Yaroslav Nikolayevich , Vinarov Andrei Zinov’yevich , Zaletaev Dmitry Vladimirovich , Kutsev Sergei Ivanovich , Strelnikov Vladimir Viktorovich TITLE=Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report JOURNAL=Frontiers in Oncology VOLUME=10 YEAR=2020 URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2020.01653 DOI=10.3389/fonc.2020.01653 ISSN=2234-943X ABSTRACT=

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.