Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma

Hongyan Chai; Fang Xu; Autumn DiAdamo; Brittany Grommisch; Huanzhi Mao; Peining Li

doi:10.1155/2022/6341207

Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma

Case Rep Genet. 2022 Apr 12:2022:6341207. doi: 10.1155/2022/6341207. eCollection 2022.

Authors

Hongyan Chai¹, Fang Xu², Autumn DiAdamo¹, Brittany Grommisch¹, Huanzhi Mao¹, Peining Li¹

Affiliations

¹ Department of Genetics, Yale University School of Medicine, New Haven 06520, CT, USA.
² Prevention Genetics, Marshfield 54449, WI, USA.

Abstract

Chromosome and array comparative genomic hybridization (aCGH) analyses were performed on two cases of well-differentiated liposarcoma (WDLPS) and two cases of dedifferentiated liposarcoma (DDLPS). The results revealed the characteristic giant ring (GR) or giant rod marker (GRM) chromosomes in all four cases and amplification of numerous somatic copy number alterations (SCNAs) involving a core segment of 12q14.1q15 and other chromosomal regions in three cases. The levels of amplification for oncogenes OS9, CDK4, HMGA2, NUP107, MDM2, YEATS4, and FRS2 at the core segment or other SCNAs should be characterized to facilitate pathologic correlation and prognostic prediction. Further studies for the initial cellular crisis event affecting chromosome intermingling regions for cell-type specific gene regulation may reveal the underlying mutagenesis mechanism for GR and GRM in WDLPS and DDLPS.

Publication types

Case Reports