Primary vs. secondary neoplasia-associated chromosomal abnormalities--balanced rearrangements vs. genomic imbalances? - PubMed (original) (raw)
Primary vs. secondary neoplasia-associated chromosomal abnormalities--balanced rearrangements vs. genomic imbalances?
B Johansson et al. Genes Chromosomes Cancer. 1996 Jul.
Abstract
Two quite distinct neoplasia-associated karyotypic patterns are emerging. One is characterized by simple and disease-specific abnormalities, and the other is characterized by multiple and nonspecific aberrations. The former pattern is typical of most leukemias and lymphomas and of some mesenchymal tumors, but it is rare in epithelial neoplasms. The latter pattern is found in most epithelial tumor types, in several mesenchymal neoplasms, but in only a few hematologic malignancies. Primary chromosome aberrations, which are believed to be essential in establishing the neoplasm, and secondary changes, which are considered to be important in tumor progression, may be distinguished in the tumors characterized by simple and disease-specific abnormalities. Here, we propose that these aberrations are genetically and hence, most likely, functionally distinct. Primary abnormalities lead to specific gene rearrangements, whereas secondary chromosomal changes result in large-scale genomic imbalances. According to this hypothesis, there are no unbalanced primary aberrations, only secondary imbalances masquerading as primary. This proposition has a number of conceptual ramifications. First, the genetic mechanisms underlying tumor initiation and progression would seem to be totally different. Second, the elucidation of the molecular consequences of the secondary aberrations will be an arduous task, even if one were to adhere to the view that cytogenetically identified genomic imbalances may be reduced to simple gains or losses of single oncogenes or tumor suppressor genes. Third, the cytogenetic diagnosis of neoplasms will have to take into account that an unbalanced "primary" abnormality is secondary to a submicroscopic, truly primary change of major diagnostic and prognostic importance.
Similar articles
- Chromosome abnormalities in cancer.
Mitelman F, Heim S. Mitelman F, et al. Cancer Detect Prev. 1990;14(5):527-37. Cancer Detect Prev. 1990. PMID: 2224917 Review. - Fusion genes and rearranged genes as a linear function of chromosome aberrations in cancer.
Mitelman F, Johansson B, Mertens F. Mitelman F, et al. Nat Genet. 2004 Apr;36(4):331-4. doi: 10.1038/ng1335. Nat Genet. 2004. PMID: 15054488 - [Significance of chromosomal abnormalities in solid tumors of humans].
Limon J, Mitelman F. Limon J, et al. Pol J Pathol. 1994;45(1):1-15. Pol J Pathol. 1994. PMID: 8177615 Review. Polish. - Prevalence estimates of recurrent balanced cytogenetic aberrations and gene fusions in unselected patients with neoplastic disorders.
Mitelman F, Mertens F, Johansson B. Mitelman F, et al. Genes Chromosomes Cancer. 2005 Aug;43(4):350-66. doi: 10.1002/gcc.20212. Genes Chromosomes Cancer. 2005. PMID: 15880352
Cited by
- Neoplasia-associated Chromosome Translocations Resulting in Gene Truncation.
Panagopoulos I, Heim S. Panagopoulos I, et al. Cancer Genomics Proteomics. 2022 Nov-Dec;19(6):647-672. doi: 10.21873/cgp.20349. Cancer Genomics Proteomics. 2022. PMID: 36316036 Free PMC article. Review. - Detailed analysis of clonal evolution and cytogenetic evolution patterns in patients with myelodysplastic syndromes (MDS) and related myeloid disorders.
Schanz J, Cevik N, Fonatsch C, Braulke F, Shirneshan K, Bacher U, Haase D. Schanz J, et al. Blood Cancer J. 2018 Mar 7;8(3):28. doi: 10.1038/s41408-018-0061-z. Blood Cancer J. 2018. PMID: 29515104 Free PMC article. - Emerging technologies in paediatric leukaemia.
Dixon-McIver A. Dixon-McIver A. Transl Pediatr. 2015 Apr;4(2):116-24. doi: 10.3978/j.issn.2224-4336.2015.03.02. Transl Pediatr. 2015. PMID: 26835367 Free PMC article. Review. - Significance of telomere capture in myelodysplastic syndromes.
Labib HA, Elshorbagy S, Elantonuy NG. Labib HA, et al. Med Oncol. 2014 Oct;31(10):216. doi: 10.1007/s12032-014-0216-0. Epub 2014 Sep 7. Med Oncol. 2014. PMID: 25195039 Clinical Trial. - Fluorescence in-situ hybridization technique as a diagnostic and prognostic tool in oral squamous cell carcinoma.
Sunil P, Ramachandran C, Gokul S, Jaisanghar N. Sunil P, et al. J Oral Maxillofac Pathol. 2013 Jan;17(1):61-4. doi: 10.4103/0973-029X.110731. J Oral Maxillofac Pathol. 2013. PMID: 23798832 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources