| Accession |
PRJCA022458 |
| Title |
Cancer risk in 22q11.2 deletion syndrome |
| Relevance |
Medical |
| Data types |
Chromosomal microarray analysis
|
| Organisms |
Homo sapiens
|
| Description |
Clinically, the 22q11.2 deletion syndrome (22q11.2DS) is considered the most commonly detected microdeletion syndrome. Hepatoblastoma is the most prevalent malignant liver cancer in childhood. However, cases of hepatoblastoma in children with 22q11.2DS have only been reported in four patients. In this report, we present a-13-year-old male treated at our center due to growth retardation, and later diagnosed with hepatoblastoma. Whole exome sequencing identified 22q11.2 deletion syndrome. Chromosomal microarray analysis (CMA) of peripheral blood samples showed a 2.9 Mb deletion of chromosome 22q11.2. Patients with 22q11.2 deletion syndrome showed an elevated risk of malignancy, though the underlying mechanism for this heightened risk remains unclear. |
| Sample scope |
single sample |
| Release date |
2023-12-28 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 38969060
|
Cancer in 22q11.2 deletion syndrome: A case report and literature review
|
European Journal Of Medical Genetics
|
10.1016/j.ejmg.2024.104959
|
2024
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| No funding support
|
|
|
|
|
|
| Submitter |
liying
Liu (13325116026@163.COM)
|
| Organization |
Shandong Provincial Hospital |
| Submission date |
2023-12-28 |
