Multiple chromoanasynthesis in a rare case of sporadic renal leiomyosarcoma: case report

Renal leiomyosarcomas (LMS) are extremely rare neoplasms with aggressive behaviour and poor survival prognosis. The most frequent somatic events in leiomyosarcomas are mutations in TP53, RB1, ATRX and PTEN genes, chromosomal instability and chromoanagenesis. By using chromosomal microarray analysis we identified 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 CNVs or tumor specific SNVs in TP53, RB1 and PTEN genes were observed. We analyzed FFPE tumor tissue of renal leiomyosarcoma from one patient using SNP-array CytoScan HD (ThermoFisher, USA) on GeneChip Scanner 3000 7G System (Applied Biosystems, USA). No technical replicates were performed.