Clustering of breakpoints to specific chromosomal regions in human neoplasia. A survey of 5,345 cases

摘要

In an attempt to map breakpoints of prime significance in human cancer and leukemia, all neoplasms with a single structural chromosomal abnormality were ascertained from the Catalog of Chromosome Aberraions in Cancer (1985), and their breakpoints were recorded. Among 5,345 cases reviewed, 318 different types of aberrations were found as the only change from the normal diploid karyotype. In order to minimize the effect of possible mistakes in karyotype interpretation, 77 abnormalities were selected that were identical in at least two neoplasms of the same or related morphologic (cytologic or histopathologic) entity. The 161 breakpoints identified in the 77 aberration types were distributed over all chromosomes except X and Y, but they were restricted to a total of 83 bands, i. e. only about 1/4 of all available bands of the standard human karyotype. At least one of these breakpoints was found to be involved in 1,004 of 1,050 (96%) cases of leukemias, lymphomas and solid tumors with complex structural karyotypic changes, indicating that only a limited number of breakpoints regularly are involved in chromosomal aberrations of human neoplasia. Furthermore, the data suggest that breakpoints of diseases affecting related cell types cluster to certain chromosomal regions.