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

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.

Afiliação

Anoshkin KI; Research Centre for Medical Genetics, Moscow, Russia.
Karandasheva KO; Research Centre for Medical Genetics, Moscow, Russia.
Goryacheva KM; I.M. Sechenov First Moscow State Medical University, Moscow, Russia.
Pyankov DV; Genomed Ltd., Moscow, Russia.
Koshkin PA; Genomed Ltd., Moscow, Russia.
Pavlova TV; N.N. Burdenko Main Military and Clinical Hospital, Moscow, Russia.
Bobin AN; N.N. Burdenko Main Military and Clinical Hospital, Moscow, Russia.
Shpot EV; I.M. Sechenov First Moscow State Medical University, Moscow, Russia.
Chernov YN; I.M. Sechenov First Moscow State Medical University, Moscow, Russia.
Vinarov AZ; I.M. Sechenov First Moscow State Medical University, Moscow, Russia.
Zaletaev DV; I.M. Sechenov First Moscow State Medical University, Moscow, Russia.
Kutsev SI; Research Centre for Medical Genetics, Moscow, Russia.
Strelnikov VV; Research Centre for Medical Genetics, Moscow, Russia.

Front Oncol ; 10: 1653, 2020.

Article em En | MEDLINE | ID: mdl-32974204

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.

Palavras-chave

MDM2; NGS; chromoanagenesis; chromoanasynthesis; chromosomal instability; leiomyosarcoma; microarray; renal

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article