Related Experiment Video
Updated: Jul 10, 2026
09:49
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Solid variant of aneurysmal bone cyst with a novel (X;9) translocation
Barton Kenney1, Kathleen E Richkind, Eduardo Zambrano
1Yale University School of Medicine, Department of Pathology, New Haven, CT 06520, USA.
Cancer Genetics and Cytogenetics
|October 24, 2007
Summary
Aneurysmal bone cysts (ABC) are bone lesions that may be neoplastic. This study identified a novel chromosomal translocation, t(X;9)(q26;q32), in a pediatric ABC case, adding to the understanding of ABC origins.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Aneurysmal bone cysts (ABC) are benign, locally destructive bone lesions.
- The neoplastic nature of ABC has been debated, with recent evidence suggesting a clonal origin.
- Cytogenetic studies on ABC are limited, but chromosome 17 abnormalities, especially t(16;17)(q22;p13), are frequently observed.
Observation:
- This report details a case of ABC in a 4-year-old female.
- The patient's ABC exhibited a previously undocumented chromosomal translocation: t(X;9)(q26;q32).
Findings:
- The identified translocation t(X;9)(q26;q32) is novel in the context of aneurysmal bone cysts.
- This finding contributes to the growing body of evidence supporting a neoplastic etiology for ABC.
- The cytogenetic diversity in ABC suggests multiple potential genetic drivers.
Implications:
- Understanding the genetic basis of ABC is crucial for accurate diagnosis and potentially targeted therapies.
- This case expands the spectrum of known chromosomal abnormalities associated with ABC.
- Further research into the molecular mechanisms of novel translocations in ABC is warranted.
