Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma.
BACKGROUND
Rarity and heterogeneity of liposarcomas (LPS) make their diagnosis difficult even for sarcoma-experts pathologists. The molecular mechanism underlying the development and progression of liposarcomas (LPS) remains only partially known. In order to identify and compare the genomic profiles, we analyzed array-based comparative genomic hybridization (array-CGH) profiles of 66 liposarcomas, including well-differentiated (WDLPS), dedifferentiated (DDLPS) and myxoid (MLPS) subtypes.


RESULTS
Copy number aberrations (CNAs) were identified in 98% of WDLPS and DDLPS and in 95% of MLPS cases. The minimal common region of amplification at 12q14.1q21.1 was observed in 96% of WDLPS and DDLPS cases. Four regions of CNAs, including losses of chromosome 6, 11 and 13 and gains of chromosome 14 were classified as recurrent in DDLPS; at least one was identified in 74% of DDLPS tumors. The DDLPS-associated losses were much more common in tumors with increased genomic complexity. In MLPS, the most frequent CNAs were losses of chromosome 6 (40%) and gains of chromosome 1 (30%), with the minimal overlapping regions 6q14.1q22.31 and 1q25.1q32.2, respectively.


CONCLUSIONS
Our findings show that the application of array-CGH allows to delineate clearly the genomic profiles of WDLPS, DDLPS and MLPS that reflect biological differences between these tumors. Although CNAs varied widely, the subtypes of tumors have characteristic genomic profiles that could facilitate the differential diagnosis of LPS subtypes, especially between WDLPS and DDLPS.
Department of Biology and Genetics, Medical University of Gdansk, 1 Debinki Street, 80-211 Gdansk, Poland.
Magdalena
0000-0001-9451-8027
M
Koczkowska
Department of Biology and Genetics, Medical University of Gdansk, 1 Debinki Street, 80-211 Gdansk, Poland.
Beata Stefania
BS
Lipska-Ziętkiewicz
Department of Biology and Genetics, Medical University of Gdansk, 1 Debinki Street, 80-211 Gdansk, Poland.
Mariola
M
Iliszko
Department of Tumor Pathology, M. Sklodowska-Curie Memorial Institute of Oncology, 11 Garncarska Street, 31-115 Krakow, Poland.
Janusz
J
Ryś
Laboratory of Pathology, National Cancer Institute, Building 10, Room B1B47, 10 Center Drive, Bethesda, 20892 MD USA.
Markku
M
Miettinen
Laboratory of Pathology, National Cancer Institute, Building 10, Room B1B47, 10 Center Drive, Bethesda, 20892 MD USA.
Jerzy
J
Lasota
Department of Pathology, Medical University of Gdansk, 17 Smoluchowskiego Street, 80-214 Gdansk, Poland.
Wojciech
W
Biernat
Department of Tumor Pathology, M. Sklodowska-Curie Memorial Institute of Oncology, 11 Garncarska Street, 31-115 Krakow, Poland.
Agnieszka
A
Harazin-Lechowska
Department of Tumor Pathology, M. Sklodowska-Curie Memorial Institute of Oncology, 11 Garncarska Street, 31-115 Krakow, Poland.
Anna
A
Kruczak
Department of Biology and Genetics, Medical University of Gdansk, 1 Debinki Street, 80-211 Gdansk, Poland.
Janusz
J
Limon
Array-based comparative genomic hybridization (array-CGH); Copy number aberrations; Genomic imbalances; Genomic profiling; Liposarcoma