Primary retroperitoneal myxoid/round cell liposarcoma is a nonexisting disease: an immunohistochemical and molecular biological analysis

Mod Pathol. 2009 Feb;22(2):223-31. doi: 10.1038/modpathol.2008.164. Epub 2008 Sep 26.

Abstract

Almost all primary retroperitoneal liposarcomas can be classified as well-/dedifferentiated liposarcoma. Rarely, however, primary retroperitoneal liposarcoma is classified as myxoid/round cell liposarcoma, based on the presence of myxoid areas and vascular crow's feet pattern, which has resulted in a debate on the classification of liposarcoma in the retroperitoneum. Genetically, myxoid/round cell liposarcoma and well-/dedifferentiated liposarcoma are different diseases. Myxoid/round cell liposarcoma is characterized by a translocation causing FUS-CHOP or EWSR1-CHOP fusion, whereas well-/dedifferentiated liposarcoma is characterized by an amplification of the 12q13-15 region, including MDM2 and CDK4 genes. As myxoid/round cell liposarcoma is highly radio- and chemosensitive, differentiation between subtypes is important to optimize treatment. We studied whether primary retroperitoneal liposarcomas diagnosed as myxoid/round cell liposarcoma represent molecularly true myxoid/round cell liposarcoma or are histopathological mimics and represent well-/dedifferentiated liposarcoma. Primary retroperitoneal myxoid/round cell liposarcoma (n=16) were compared to primary extremity myxoid/round cell liposarcoma (n=20). Histopathological and immunohistochemical features were studied. Amplification status of the 12q13-15 region was studied using a multiplex ligation-dependent probe amplification analysis, and FUS-CHOP or EWS-CHOP translocations were studied using RT-PCR. In primary retroperitoneal myxoid/round cell liposarcoma, MDM2 and CDK4 staining was both positive in 12 of 15 cases. In primary extremity myxoid/round cell liposarcoma, MDM2 was negative in 18/20 and CDK4 was negative in all cases. Multiplex ligation-dependent probe amplification showed the amplification of 12q13-15 region in 16/16 primary retroperitoneal myxoid/round cell liposarcomas and in 1/20 primary extremity myxoid/round cell liposarcomas. Translocation was present in all (18/18) primary extremity myxoid/round cell liposarcomas, but absent in all primary retroperitoneal myxoid/round cell liposarcomas. On the basis of immunohistochemical and molecular characteristics, apparent primary retroperitoneal myxoid/round cell liposarcoma can be recognized as well-/dedifferentiated liposarcoma with morphological features mimicking myxoid/round cell liposarcoma. In these cases, treatment should probably be specifically designed as for well-/dedifferentiated liposarcoma. Moreover, finding of myxoid/round cell liposarcoma translocations in a retroperitoneal localization is highly suggestive of metastasis and should prompt search for a primary localization outside the retroperitoneum.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Calmodulin-Binding Proteins / genetics
  • Cell Differentiation
  • Chromosomes, Human, Pair 12
  • Cyclin-Dependent Kinase 4 / analysis
  • Cyclin-Dependent Kinase 4 / genetics
  • Female
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Immunohistochemistry*
  • Liposarcoma, Myxoid / chemistry
  • Liposarcoma, Myxoid / classification
  • Liposarcoma, Myxoid / genetics
  • Liposarcoma, Myxoid / pathology*
  • Liposarcoma, Myxoid / therapy
  • Male
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics
  • Polymerase Chain Reaction*
  • Proto-Oncogene Proteins c-mdm2 / analysis
  • Proto-Oncogene Proteins c-mdm2 / genetics
  • RNA-Binding Protein EWS
  • RNA-Binding Protein FUS / genetics
  • RNA-Binding Proteins / genetics
  • Retroperitoneal Neoplasms / chemistry
  • Retroperitoneal Neoplasms / classification
  • Retroperitoneal Neoplasms / genetics
  • Retroperitoneal Neoplasms / pathology*
  • Retroperitoneal Neoplasms / therapy
  • Terminology as Topic
  • Transcription Factor CHOP / genetics
  • Translocation, Genetic

Substances

  • Calmodulin-Binding Proteins
  • EWSR1 protein, human
  • Oncogene Proteins, Fusion
  • RNA-Binding Protein EWS
  • RNA-Binding Protein FUS
  • RNA-Binding Proteins
  • TLS-CHOP fusion protein, human
  • Transcription Factor CHOP
  • MDM2 protein, human
  • Proto-Oncogene Proteins c-mdm2
  • CDK4 protein, human
  • Cyclin-Dependent Kinase 4