chromosomal rearrangement
Structural alterations in chromosome organization including translocations, inversions, and deletions that can create oncogenic fusion proteins or disrupt tumor suppressor function.
Full Definition
Chromosomal rearrangements encompass various structural changes in chromosome architecture that play crucial roles in cancer development and precision oncology. These alterations include translocations (chromosome segments switching places), inversions (chromosome segments flipping orientation), deletions (loss of chromosome segments), and duplications. In precision oncology, specific rearrangements often create fusion genes that produce aberrant proteins targetable by specific therapies. Examples include BCR-ABL1 in chronic myeloid leukemia and ALK rearrangements in lung cancer. Detection methods include fluorescence in situ hybridization (FISH), chromosomal microarrays, and next-generation sequencing approaches.
Usage
Usage note: Use specific rearrangement type (translocation, inversion, etc.) when known; avoid generic 'abnormality.'
In Context
- "FISH analysis confirmed the presence of an ALK chromosomal rearrangement in the lung adenocarcinoma specimen." — molecular pathology report
- "Chromosomal rearrangements involving the MYC gene are frequently observed in aggressive B-cell lymphomas." — hematology-oncology consultation