Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report.
MDM2
NGS
chromoanagenesis
chromoanasynthesis
chromosomal instability
leiomyosarcoma
microarray
renal
Journal
Frontiers in oncology
ISSN: 2234-943X
Titre abrégé: Front Oncol
Pays: Switzerland
ID NLM: 101568867
Informations de publication
Date de publication:
2020
2020
Historique:
received:
11
06
2020
accepted:
28
07
2020
entrez:
25
9
2020
pubmed:
26
9
2020
medline:
26
9
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32974204
doi: 10.3389/fonc.2020.01653
pmc: PMC7466669
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1653Informations de copyright
Copyright © 2020 Anoshkin, Karandasheva, Goryacheva, Pyankov, Koshkin, Pavlova, Bobin, Shpot, Chernov, Vinarov, Zaletaev, Kutsev and Strelnikov.
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