Fluorescence In Situ Hybridization in the Diagnosis of Soft Tissue Neoplasms: A Review

This paper presents an overview of the role of fluorescence in situ hybridization (FISH) in the diagnosis of soft tissue neoplasms. Many soft tissue neoplasms harbor characteristic translocations or amplification of gene regions, which can be assessed by FISH, and can be used to assist in their diagnosis. We discuss the major morphologic categories in which FISH has come to be used including high-grade round cell sarcomas, spindle cell sarcomas, low-grade myxoid neoplasms, adipocytic neoplasms, and malignant melanocytic neoplasms on the basis of a recent review of soft tissue neoplasms which were analyzed by FISH. We also review the molecular alterations (translocations and amplification of gene regions), which have come to define many of these diagnostic entities and the most effective way to evaluate them with FISH with attention to potential pitfalls. Finally, we discuss the advantages and disadvantages of FISH as a technique when appraising soft tissue neoplasms.

[1]  W. Gerald,et al.  Detection of chimeric transcripts in desmoplastic small round cell tumor and related developmental tumors by reverse transcriptase polymerase chain reaction. A specific diagnostic assay. , 1995, The American journal of pathology.

[2]  M. Höglund,et al.  Fusion of the EWS and CHOP genes in myxoid liposarcoma. , 1996, Oncogene.

[3]  F. Collin,et al.  Translocation-positive Low-grade Fibromyxoid Sarcoma: Clinicopathologic and Molecular Analysis of a Series Expanding the Morphologic Spectrum and Suggesting Potential Relationship to Sclerosing Epithelioid Fibrosarcoma: A Study From the French Sarcoma Group , 2007, The American journal of surgical pathology.

[4]  J. Pfeifer,et al.  Molecular diagnosis of Ewing sarcoma/primitive neuroectodermal tumor in routinely processed tissue: a comparison of two FISH strategies and RT-PCR in malignant round cell tumors , 2006, Modern Pathology.

[5]  J. Goldblum,et al.  Enzinger and Weiss's Soft Tissue Tumors , 2001 .

[6]  C. Antonescu,et al.  Clinicopathologic and molecular genetic characterization of low-grade fibromyxoid sarcoma, and cloning of a novel FUS/CREB3L1 fusion gene , 2005, Laboratory Investigation.

[7]  J. Downing,et al.  Multiplex RT-PCR assay for the differential diagnosis of alveolar rhabdomyosarcoma and Ewing's sarcoma. , 1995, The American journal of pathology.

[8]  J. Goldblum,et al.  Response to Pantanowitz et al , 2005, Modern Pathology.

[9]  J. Biegel,et al.  Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. , 1995, JAMA.

[10]  A. Sandberg,et al.  Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors. Synovial sarcoma. , 2002, Cancer genetics and cytogenetics.

[11]  U. Surti,et al.  EWSR1‐CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma , 2007, Genes, chromosomes & cancer.

[12]  J. Goldblum,et al.  Fluorescence in situ hybridization for MDM2 gene amplification as a diagnostic tool in lipomatous neoplasms , 2008, Modern Pathology.

[13]  Ming Zhou,et al.  Use of a novel FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of alveolar rhabdomyosarcoma , 2006, Laboratory Investigation.

[14]  P. Terrier,et al.  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 , 2007, The American journal of surgical pathology.

[15]  J. Goldblum,et al.  Usefulness of cytokeratin subsets for distinguishing monophasic synovial sarcoma from malignant peripheral nerve sheath tumor. , 1999, American journal of clinical pathology.

[16]  L. Guillou,et al.  Malignant Peripheral Nerve Sheath Tumors are t(X;18)-Negative Sarcomas. Molecular Analysis of 25 Cases Occurring in Neurofibromatosis Type 1 Patients, Using Two Different RT-PCR-Based Methods of Detection , 2002, Modern Pathology.

[17]  C. Fisher,et al.  Low-Grade Fibromyxoid Sarcoma and Hyalinizing Spindle Cell Tumor With Giant Rosettes Share a Common t(7;16)(q34;p11) Translocation , 2003, The American journal of surgical pathology.

[18]  J. Goldblum,et al.  Dual-color, break-apart fluorescence in situ hybridization for EWS gene rearrangement distinguishes clear cell sarcoma of soft tissue from malignant melanoma , 2005, Modern Pathology.

[19]  F. Collin,et al.  Diagnosis of clear cell sarcoma by real‐time reverse transcriptase‐polymerase chain reaction analysis of paraffin embedded tissues , 2006, Cancer.

[20]  A. Lazar,et al.  Molecular Pathology of Bone and Soft Tissue Tumors , 2009 .

[21]  F. Mitelman,et al.  Correlation between clinicopathological features and karyotype in lipomatous tumors. A report of 178 cases from the Chromosomes and Morphology (CHAMP) Collaborative Study Group. , 1996, The American journal of pathology.

[22]  C. Fletcher,et al.  Translocation t(12;16)(q13;p11) in myxoid liposarcoma and round cell liposarcoma: molecular and cytogenetic analysis. , 1995, Cancer research.

[23]  P. Sorensen,et al.  Ewing sarcoma with novel translocation t(2;16) producing an in-frame fusion of FUS and FEV. , 2007, The Journal of molecular diagnostics : JMD.

[24]  J. Fletcher,et al.  Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma , 2002, Genes, chromosomes & cancer.

[25]  S. Chin,et al.  FUS/ERG gene fusions in Ewing's tumors. , 2003, Cancer research.

[26]  W. Cavenee,et al.  Detection of the t(2;13) chromosomal translocation in alveolar rhabdomyosarcoma using the reverse transcriptase‐polymerase chain reaction , 1996, Genes, Chromosomes and Cancer.

[27]  F. Mitelman,et al.  Combined morphologic and karyotypic study of 59 atypical lipomatous tumors. Evaluation of their relationship and differential diagnosis with other adipose tissue tumors (a report of the CHAMP Study Group). , 1996, The American journal of surgical pathology.

[28]  D. Gisselsson,et al.  A novel fusion gene, SS18L1/SSX1, in synovial sarcoma , 2003, Genes, chromosomes & cancer.

[29]  K. Mrózek,et al.  Cytogenetic and immunohistochemical profile of myxoid liposarcoma. , 1995, American journal of clinical pathology.

[30]  A. Nascimento Dedifferentiated liposarcoma. , 2001, Seminars in diagnostic pathology.