Chapter category: Cancer Genetics
ETV6–NTRK3 Gene Fusions in Spindle Cell Tumors of Early Childhood
Translocations in Solid Tumors
Edited by: Colin CooperISBN: 1-58706-033-7
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Chapter authors:
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 aberrant transcription factors, likely functioning in transformation by dysregulating the expression of key target genes (reviewed in ref.1). Among solid tumors, bone and soft tissue sarcomas of childhood have been particularly fruitful for the identification of oncogenic gene fusions.1,2 Moreover, their characterization has revealed very consistent correlations between different gene fusion subtypes and the specific tumors that they are expressed in. Detection of fusion transcripts in pathologic specimens has therefore become very useful as a diagnostic modality. This is particularly relevant for childhood sarcomas, which tend to be extremely primitive in appearance and therefore very difficult to differentiate from each other morphologically.3 Since initial diagnosis often determines which treatment protocol a patient is entered on, accurate pathologic classification is a critical prognostic factor for these patients.
Additional chapters from this book:
Toward New Approaches: Targeting Tumor Specific Molecular Alterations with Immune Based Therapy
Crystal L. Mackall, Theresa J. Goletz, Jay A. Berzofsky, and Lee 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). Sever...
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
Marco A. Pierotti, Italia Bongarzone, Maria Grazia Borrello, Angela Greco, Silvana Pilotti and Gabriella 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 ...
Chromosome Translocations in the Ewing Family of Tumors
Olivier Delattre and Nicolas Sévenet
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
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
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...
