Table of Contents
What are high risk cytogenetics in multiple myeloma?
The International Myeloma Working Group consensus updates the definition for high-risk (HR) multiple myeloma based on cytogenetics Several cytogenetic abnormalities such as t(4;14), del(17/17p), t(14;16), t(14;20), nonhyperdiploidy, and gain(1q) were identified that confer poor prognosis.
What is cytogenetic risk?
Based on outcome analysis, three cytogenetic risk categories were identified: low risk (normal karyotype or loss of Y chromosome as a single anomaly), high risk (presence of trisomy 8 or abnormalities of chromosome 7, or complex karyotype), and intermediate risk (all other abnormalities).
How do you classify multiple myeloma?
Myeloma is divided at the highest genetic level into two subtypes: disease that is hyperdiploid (h-MM), and disease that is non-hyperdiploid (nh-MM)….International Myeloma Working Group (IMWG) Molecular Classification of Multiple Myeloma.
| High-Risk | Intermediate Risk | Risk |
|---|---|---|
| FISH | FISH | All others, including |
How is high risk myeloma treated?
The treatment approach for a newly diagnosed patient with high-risk multiple myeloma should include induction therapy, autologous stem cell transplantation if appropriate, and maintenance therapy.
What do you mean by cytogenetics?
The study of chromosomes, which are long strands of DNA and protein that contain most of the genetic information in a cell. Cytogenetics involves testing samples of tissue, blood, or bone marrow in a laboratory to look for changes in chromosomes, including broken, missing, rearranged, or extra chromosomes.
What is the importance of cytogenetics?
Cytogenetics plays a key role in the detection of chromosomal abnormalities associated with malignancies, as well as the characterization of new alterations that allow more research and increase knowledge about the genetic aspects of these diseases.
What are the most common cytogenetic abnormalities in myelodysplastic syndrome (MDS)?
There are hundreds of other rare cytogenetic abnormalities that have been reported in MDS, included but not limited to –X, 3q abnormalities, +13/del(13q), i(17q), +21/–21. However, due to a very low number of patients, their impact on the prognosis of MDS is limited.
Does cytogenetics influence the pathophysiology of primary MDS?
For radiation, abnormalities were mostly in chromosome 8. This study of association between exposures and cytogenetics in primary MDS complements those previously reported in secondary MDS and may provide some insight into pathogenetic mechanisms that lead to development of MDS.
How many different types of chromosome abnormalities are there in MDS?
As an example in our recent multicentric cytogenetic analysis of patients with MDS, we observed 684 different types of chromosome abnormalities in a cohort of 1,080 patients with MDS and an abnormal karyotype [1]. The cytogenetic profile of MDS In general, MDS show a characteristic genetic profile with an overweighing of unbalanced abnormalities.
Is there an association between occupational exposure and cytogenetic abnormality in MDS?
Several previous reports of association between occupational exposure and cytogenetic abnormality in MDS have involved small numbers of patients 26, 27 and have been based on internal comparisons between cytogenetically normal and abnormal patients.