From the Guidelines
Deletion at 11q13.5 is associated with a poor prognosis in multiple myeloma, particularly when involving the CCND1 gene, and is considered a high-risk genetic abnormality. This genetic abnormality is typically characterized by translocations involving the immunoglobulin heavy chain locus on chromosome 14, leading to activation of oncogenes 1. The presence of this deletion can lead to a more aggressive disease, with patients often experiencing rapid resistance to available therapies and a shorter overall survival 1.
Key Points
- Deletion at 11q13.5 is a genetic abnormality that can be detected through plasma cell fluorescence in situ hybridization (FISH) or metaphase cytogenetics 1
- This abnormality is associated with non-hyperdiploid myeloma, which typically involves translocations involving the immunoglobulin heavy chain locus on chromosome 14 1
- Patients with deletion at 11q13.5 often have a poor prognosis, with a more aggressive disease and shorter overall survival 1
- Treatment for multiple myeloma with deletion at 11q13.5 typically involves a risk-adapted approach, with consideration of stem cell transplant, immunomodulatory drugs, and bortezomib 1
Management
- Diagnosis of deletion at 11q13.5 is confirmed through genetic testing methods such as FISH or metaphase cytogenetics 1
- Treatment focuses on managing individual symptoms and maximizing developmental potential, with a multidisciplinary approach that includes developmental therapies, special education support, and medical management of specific health issues 1
- Early intervention is crucial for maximizing developmental potential, and regular follow-up with specialists is important to monitor development and address new concerns as they arise 1
From the Research
Implications of Deletion at 11q13.5
- The deletion at 11q13.5 is associated with various clinical features, including dysmorphic features such as coarse facial features, congenital laryngomalacia, oblique inguinal hernia, high-arched palate, and camptodactyly 2.
- However, the study that reported these features was focused on a case with an interstitial 20.5-Mb deletion at chromosome 11q13.4q21, which may not be directly related to the specific deletion at 11q13.5.
- There is limited information available on the implications of a deletion specifically at 11q13.5, as most studies have focused on amplifications or deletions at nearby regions.
- One study found that the 11q13.5 locus is frequently amplified in several types of human cancer, and that this amplification is associated with paclitaxel resistance in ovarian cancer 3.
- Another study examined the amplification of the 11q13 region in human carcinoma cell lines and found that it is generally not involved with deletion as the initial step 4.
- It is worth noting that the available studies do not provide a clear genotype-phenotype correlation for deletions at 11q13.5, and more research is needed to fully understand the implications of such a deletion 2, 5.