Chapter category: Cancer Genetics
Molecular Diagnostics
Translocations in Solid Tumors
Edited by: Colin CooperISBN: 1-58706-033-7
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Chapter authors:
Marc Ladanyi
Specific chromosomal translocations are found in several solid tumors, including many sarcomas (Table 1) and some epithelial tumors (Table 2). Several lines of evidence suggest that the fusion genes encoded by these translocations are the initiating events that are likely to be necessary for the genesis of these solid tumors. The resulting fusion proteins are of two types, most being chimeric transcription factors (or cofactors) and a few representing chimeric tyrosine kinases (TEL-NTRK3, RET and NTRK1 fusions). Besides their biological interest, these translocations provide diagnostic tumor markers which are especially useful, considering how difficult the morphological diagnosis of sarcomas can be, even for seasoned sarcoma pathologists. This chapter will highlight molecular diagnostic issues in the detection of gene fusions in solid tumors and will focus on two main methods, namely reverse transcriptase-polymerase chain reaction (RT–PCR) and Southern blotting, using mainly EWS gene fusions as examples. Other diagnostic approaches, such as conventional cytogenetics and fluorescent in situ hybridization are discussed elsewhere in this volume.
Additional chapters from this book:
Toward New Approaches: Targeting Tumor Specific Molecular Alterations with Immune Based Therapy
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Effective immune based therapies for cancer have long been sought by immunologists and oncologists. Indeed many of the basic immunologic principles of transplantation were discovered serendipi...
Molecular Diagnostics
Marc Ladanyi
Specific chromosomal translocations are found in several solid tumors, including many sarcomas (Table 1) and some epithelial tumors (Table 2). Sever...
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Renal neoplasms account for 3% of adult malignancies with approximately 27,000 cases and more than 10,000 deaths in the US each year.1 In children renal tumors, predominantly Wilm's...
Thyroid Cancer
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The thyroid gland manifests a wide spectrum of malignant neoplasms, including medullary thyroid carcinoma (MTC), which develop from the neural–crest derived C cells, and tumors originatin...
ETV6–NTRK3 Gene Fusions in Spindle Cell Tumors of Early Childhood
Poul H.B. Sorensen
Molecular analysis of gene fusions expressed in human tumors is providing numerous insights into the oncogenic process. Most chimeric oncoproteins characterized to date appear to act as aberra...
Chromosome Translocations in Dermatofibrosarcoma
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Dermatofibrosarcoma Protuberans (DP), also named Darier–Ferrand tumor, is a soft tissue tumor typically located in the deep dermis. It arises at any site but preferentially in the subcuta...
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Synovial sarcoma accounts for about 10% of adult soft tissue sarcomas with approximately 200 new cases a year in the UK and 800 in the USA. They occur mainly in adolescence although can presen...
The TLS-CHOP Oncoprotein and Human Liposarcoma
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In thinking about cancers that may be amenable to specific therapeutic approaches, one is drawn to the relatively small group of neoplasms, mainly leukemias, lymphomas and sarcomas, that have ...
Chromosome Translocations in the Ewing Family of Tumors
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Ewing's sarcoma of bone was originally identified by James Ewing in 1921 as a tumor of long bones, distinct from osteosarcoma, sensitive to radiation and of possible endothelial origin. Subseq...
Chromosomal Translocations in Alveolar Rhabdomyosarcoma
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Alveolar rhabdomyosarcoma (ARMS) is one subtype of rhabdomyosarcoma (RMS), a heterogeneous family of soft tissue tumors that generally occur in pediatric patients and are related to the skelet...
Chromosome Translocations in Benign Solid Tumors
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The evolution from classical genetics to molecular genetics and genetic engineering has revealed the immense potential of gene manipulation for basic science, medicine, and biotechnology. The ...
Molecular Cytogenetics of Complex Chromosomal Rearrangements
R.F. Suijkerbuijk, A. Simons, and A. Geurts van Kessel
Since the end of the last century karyotypicabnormalities have been known to occur in neoplastic cells.1–2 Significant progress in the interpretation of these aberrations was, ...
Cytogenetics of Solid Tumors
Jonathon A. Fletcher
Most of the chromosome translocations discussed in this book were discovered through cytogenetic analyzes. In fact, traditional cytogenetic approaches, in which various stains are used to prod...
Toward New Approaches: Targeting Tumor Specific Molecular Alterations with Immune Based Therapy
C. L. Mackall, T. J. Goletz, J. A. Berzofsky and L.J. Helman
Effective immune based therapies for cancer have long been sought by immunologists and oncologists. Indeed many of the basic immunologic principles of transplantation were discovered serendipi...
Molecular Diagnostics
Marc Ladanyi
Specific chromosomal translocations are found in several solid tumors, including many sarcomas (Table 1) and some epithelial tumors (Table 2). Several lines of evidence suggest that the fusion...
Renal Carcinoma
Colin S. Cooper and Janet M. Shipley
Renal neoplasms account for 3% of adult malignancies with approximately 27,000 cases and more than 10,000 deaths in the US each year.1 In children renal tumors, predominantly Wilm's...
Thyroid Cancer
M. A. Pierotti, I. Bongarzone, M. G. Borrello, A. Greco, S. Pilotti and G. Sozzi
The thyroid gland manifests a wide spectrum of malignant neoplasms, including medullary thyroid carcinoma (MTC), which develop from the neural–crest derived C cells, and tumors originatin...
ETV6–NTRK3 Gene Fusions in Spindle Cell Tumors of Early Childhood
Poul H.B. Sorensen
Molecular analysis of gene fusions expressed in human tumors is providing numerous insights into the oncogenic process. Most chimeric oncoproteins characterized to date appear to act as aberra...
Chromosome Translocations in Dermatofibrosarcoma
Claude Turc-Carel
Dermatofibrosarcoma Protuberans (DP), also named Darier–Ferrand tumor, is a soft tissue tumor typically located in the deep dermis. It arises at any site but preferentially in the subcuta...
Synovial Sarcoma
Janet M. Shipley and Colin S. Cooper
Synovial sarcoma accounts for about 10% of adult soft tissue sarcomas with approximately 200 new cases a year in the UK and 800 in the USA. They occur mainly in adolescence although can presen...
The TLS-CHOP Oncoprotein and Human Liposarcoma
Masahiko Kuroda, John Sok and David Ron
In thinking about cancers that may be amenable to specific therapeutic approaches, one is drawn to the relatively small group of neoplasms, mainly leukemias, lymphomas and sarcomas, that have ...
Chromosomal Translocations in Alveolar Rhabdomyosarcoma
Frederic G. Barr
Alveolar rhabdomyosarcoma (ARMS) is one subtype of rhabdomyosarcoma (RMS), a heterogeneous family of soft tissue tumors that generally occur in pediatric patients and are related to the skelet...
Chromosome Translocations in Benign Solid Tumors
Wim J.M. Van de Ven, Koen Kas, Marleen M.R. Petit, Eric F.P.M. Schoenmakers, and Marianne L. Voz
The evolution from classical genetics to molecular genetics and genetic engineering has revealed the immense potential of gene manipulation for basic science, medicine, and biotechnology. The ...
Molecular Cytogenetics of Complex Chromosomal Rearrangements
R.F. Suijkerbuijk, A. Simons, and A. Geurts van Kessel
Since the end of the last century karyotypicabnormalities have been known to occur in neoplastic cells.1–2 Significant progress in the interpretation of these aberrations was, ...
Cytogenetics of Solid Tumors
Jonathan A. Fletcher
Most of the chromosome translocations discussed in this book were discovered through cytogenetic analyzes. In fact, traditional cytogenetic approaches, in which various stains are used to prod...
