Similarity in genetic alterations between paired well-differentiated and dedifferentiated components of dedifferentiated liposarcoma
- PMID: 19734852
- DOI: 10.1038/modpathol.2009.119
Similarity in genetic alterations between paired well-differentiated and dedifferentiated components of dedifferentiated liposarcoma
Abstract
Liposarcoma represents a unique model insofar as some well-differentiated liposarcomas progress to non-lipogenic, so-called 'dedifferentiated,' forms. The well-differentiated and dedifferentiated family of liposarcomas demonstrates amplification of the chromosome subregion 12q13-q15 with resultant amplification of the MDM2 and CDK4 genes. However, the specific genetic changes that distinguish between well-differentiated and dedifferentiated liposarcomas are less well understood. To study the genetic changes in dedifferentiated liposarcomas, paired well-differentiated and dedifferentiated components of 29 tumors were analyzed separately by array-based comparative genomic hybridization. A bacterial artificial chromosome array at approximately 1-Mb resolution was used. The genetic changes were compared with clinical presentation, grade of the dedifferentiated component and overexpression of MDM2 and CDK4. Most tumors (n=21, 72%) were retroperitoneal, with both components present at initial diagnosis (n=25, 86%). Eight tumors (28%) were classified as low-grade dedifferentiation. In four cases (14%), a well-differentiated liposarcoma preceded the presentation of the dedifferentiated tumor by 1-5 years. 12q13-q15 was amplified in all tumors. Using unsupervised hierarchical clustering of copy-number changes, all but two tumors showed close similarities between well-differentiated and dedifferentiated components, and segregated as pairs. Dedifferentiated components had more total amplifications (P=0.008) and a trend for gain at 19q13.2, but no genetic changes were significant in distinguishing between the two components. High-level amplifications of 1p21-32 (n=7, 24%), 1q21-23 (n=9, 31%), 6q23-24 (n=6, 21%) and 12q24 (n=3, 10%) were common, but none significantly correlated with differentiation. Presentation and grade correlated with the frequency of changes at a number of genetic loci (P<0.001), whereas CDK4 immunostaining showed negative correlation with 12q13.13 amplification. The genotypic similarity, at the limit of the array's resolution, between components implies that most genetic changes precede phenotypic 'progression,' early in tumorigenesis. The relationship between genetic changes and presentation or grade may reflect differences in factors that control genomic instability or the background genotype of the tumor.
Similar articles
-
Inflammatory malignant fibrous histiocytomas and dedifferentiated liposarcomas: histological review, genomic profile, and MDM2 and CDK4 status favour a single entity.J Pathol. 2004 Jul;203(3):822-30. doi: 10.1002/path.1579. J Pathol. 2004. PMID: 15221942
-
Prognostic value of HMGA2, CDK4, and JUN amplification in well-differentiated and dedifferentiated liposarcomas.Mod Pathol. 2015 Nov;28(11):1404-14. doi: 10.1038/modpathol.2015.96. Epub 2015 Sep 4. Mod Pathol. 2015. PMID: 26336885
-
Detection of MDM2-CDK4 amplification by fluorescence in situ hybridization in 200 paraffin-embedded tumor samples: utility in diagnosing adipocytic lesions and comparison with immunohistochemistry and real-time PCR.Am J Surg Pathol. 2007 Oct;31(10):1476-89. doi: 10.1097/PAS.0b013e3180581fff. Am J Surg Pathol. 2007. PMID: 17895748
-
Targeting CDK4 (cyclin-dependent kinase) amplification in liposarcoma: A comprehensive review.Crit Rev Oncol Hematol. 2020 Sep;153:103029. doi: 10.1016/j.critrevonc.2020.103029. Epub 2020 Jun 18. Crit Rev Oncol Hematol. 2020. PMID: 32593094 Review.
-
Well-differentiated and dedifferentiated liposarcomas.Virchows Arch. 2010 Feb;456(2):167-79. doi: 10.1007/s00428-009-0815-x. Epub 2009 Aug 18. Virchows Arch. 2010. PMID: 19688222 Review.
Cited by
-
Soft tissue sarcoma subtypes exhibit distinct patterns of acquired uniparental disomy.BMC Med Genomics. 2012 Dec 5;5:60. doi: 10.1186/1755-8794-5-60. BMC Med Genomics. 2012. PMID: 23217126 Free PMC article.
-
Genomic profiling of malignant phyllodes tumors reveals aberrations in FGFR1 and PI-3 kinase/RAS signaling pathways and provides insights into intratumoral heterogeneity.Mod Pathol. 2016 Sep;29(9):1012-27. doi: 10.1038/modpathol.2016.97. Epub 2016 Jun 3. Mod Pathol. 2016. PMID: 27255162
-
Fluorescence In Situ Hybridization for MDM2 Amplification as a Routine Ancillary Diagnostic Tool for Suspected Well-Differentiated and Dedifferentiated Liposarcomas: Experience at a Tertiary Center.Sarcoma. 2015;2015:812089. doi: 10.1155/2015/812089. Epub 2015 Feb 25. Sarcoma. 2015. PMID: 25810689 Free PMC article.
-
Current concepts on dedifferentiation/high-grade transformation in salivary gland tumors.Patholog Res Int. 2011;2011:325965. doi: 10.4061/2011/325965. Epub 2011 Aug 17. Patholog Res Int. 2011. PMID: 21876843 Free PMC article.
-
Targeting the MDM2-p53 pathway in dedifferentiated liposarcoma.Front Oncol. 2022 Nov 10;12:1006959. doi: 10.3389/fonc.2022.1006959. eCollection 2022. Front Oncol. 2022. PMID: 36439412 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Research Materials
Miscellaneous