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Clinical Application of Chromosome Microarray Analysis in the Diagnosis of Lipomatous Tumors.
Pei, Jianming; Flieder, Douglas B; Talarchek, Jacqueline N; Cooper, Harry S; Patchefsky, Arthur S; Wei, Shuanzeng.
Affiliation
  • Pei J; Department of Pathology, Fox Chase Cancer Center, Philadelphia, PA.
Appl Immunohistochem Mol Morphol ; 29(8): 592-598, 2021 09 01.
Article in En | MEDLINE | ID: mdl-33734108
Well-differentiated liposarcoma/atypical lipomatous tumor (WDLS/ALT) and dedifferentiated liposarcoma (DDLS) have characteristic supernumerary ring and giant marker chromosomes involving the chromosomal region 12q13-15 which contains MDM2 (12q15), CDK4 (12q14.1), HMGA2 (12q14.3), YEATS4 (12q15), CPM (12q15), and FRS2 (12q15). Detecting MDM2 amplification by fluorescence in situ hybridization (FISH) is considered to be the gold standard for the diagnosis of WDLS/ALT and DDLS. In this study, formalin fixed paraffin embedded clinical specimens (16 liposarcomas and 19 benign lipomatous tumors) were used to detect MDM2 amplification and other chromosomal alterations in WDLS/ALT and DDLS by single nucleotide polymorphism-based chromosome microarray (CMA). All 16 liposarcomas showed MDM2 amplification with a MDM2/cep12 ratio from 2.4 to 8.4 by CMA. Ten (62.5%) of these cases had CDK4/cep12 ratio ≥2.0. All the cases without CDK4 amplification were from the thigh. The MDM2/cep12 ratio of all the benign lipomatous tumors (19/19) was within the normal limits. Twenty-one of the 35 benign lipomatous tumors and liposarcomas were also tested for MDM2 amplification by FISH. All the FISH results were consistent with the CMA results (100%). Along with MDM2 amplification, all 16 liposarcomas (100%) also showed amplification of YEATS4, CPM and FRS2. Only 11 of 16 (69%) cases showed HMGA2 amplification. In conclusion, this study demonstrated that CMA on routine formalin fixed paraffin embedded tissue is a sensitive and specific clinical test for detection of MDM2 gene amplification. Moreover, CMA allows simultaneous detection of genomic changes of interest including CDK4 and others, which provides enriched information for diagnosing lipomatous tumors.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosome Aberrations / Chromosomes, Human / Oligonucleotide Array Sequence Analysis / Gene Expression Profiling / Liposarcoma / Neoplasm Proteins Type of study: Diagnostic_studies Limits: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Appl Immunohistochem Mol Morphol Journal subject: BIOLOGIA MOLECULAR / HISTOCITOQUIMICA Year: 2021 Document type: Article Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosome Aberrations / Chromosomes, Human / Oligonucleotide Array Sequence Analysis / Gene Expression Profiling / Liposarcoma / Neoplasm Proteins Type of study: Diagnostic_studies Limits: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Appl Immunohistochem Mol Morphol Journal subject: BIOLOGIA MOLECULAR / HISTOCITOQUIMICA Year: 2021 Document type: Article Country of publication: