Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report

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

doi:10.3389/fonc.2020.01653

Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report

Front Oncol. 2020 Aug 19:10:1653. doi: 10.3389/fonc.2020.01653. eCollection 2020.

Authors

Kirill Igorevich Anoshkin¹, Kristina Olegovna Karandasheva¹, Kristina Mikhaylovna Goryacheva², Denis Valer'yevich Pyankov³, Philipp Aleksandrovich Koshkin³, Tatiana Vladimirovna Pavlova⁴, Alexandr Nikolaevich Bobin⁴, Evgeniy Valer'yevich Shpot², Yaroslav Nikolayevich Chernov², Andrei Zinov'yevich Vinarov², Dmitry Vladimirovich Zaletaev², Sergei Ivanovich Kutsev¹, Vladimir Viktorovich Strelnikov¹

Affiliations

¹ Research Centre for Medical Genetics, Moscow, Russia.
² I.M. Sechenov First Moscow State Medical University, Moscow, Russia.
³ Genomed Ltd., Moscow, Russia.
⁴ N.N. Burdenko Main Military and Clinical Hospital, Moscow, Russia.

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.

Keywords: MDM2; NGS; chromoanagenesis; chromoanasynthesis; chromosomal instability; leiomyosarcoma; microarray; renal.

Publication types

Case Reports