What is translocation of 14;16?

What is the T1416 translocation in multiple myeloma? In this Health Tree University video, we break down everything you need to know, what it is, how it's detected, how common it is in patients, and why it's classified as a high-risk genetic marker. Whether you're a patient, caregiver, or medical professional, this is essential information for understanding prognosis and treatment strategies in myeloma. Subscribe to the Health Tree University YouTube channel if you would like to learn more on chromosomal and gene abnormalities in myeloma and personalized cancer care. What is a translocation? Translocations are when two pieces of chromosomes swap with each other. In the case of translocation 1416, you have a piece of chromosome 14 swapping with a piece of chromosome 16. In this case, on chromosome 16, you have an oncogene. These are types of genes that cause cells to grow more rapidly. And when this rearrangement occurs, generally myeloma cells have a greater growth advantage, which makes them sometimes more difficult to treat. As a result, we think of translocation 1416 as a high-risk marker for multiple myeloma. Is translocation 1416 in and of itself considered a high-risk translocation on its own? The International Myeloma Working Group is an organization of physicians and researchers who come together and set the guidelines, and that includes the definition of high-risk myeloma. Later this year, perhaps a publication will come out from the IMWG revising what we used to call high-risk. Previously, translocation 1416 in and of itself was considered a high-risk marker. Now, with new data coming out, we think in combination with something else is required to make it high-risk. And that something else is an amplification of one cue. That's the large arm of the chromosome 1, or it's in addition to 1p deletion. So that's the small arm of chromosome 1 being deleted. So the combination of those two, the translocation 1416 and one of those other markers, would be a better criteria, is what the International Myeloma Working Group is telling us, for defining high risk. Since the recording of this video, the International Myeloma Working Group has updated the definition of high-risk multiple myeloma. Chromosome translocations now need to occur, with the presence of a chromosome 1 abnormality. How is translocation 1416 detected? The way a patient would know if they have this translocation is through a bone marrow biopsy. During this procedure, a part of the bone marrow is removed, that is then sent to the pathology lab, where plasma cells are extracted and sent for genetic testing. The type of testing is called FISH. So FISH analysis is what detects translocations. About 5% of patients have translocation 1416, making it an uncommon type of high-risk marker. To learn more about fluorescence in situ hybridization, commonly known as FISH analysis, be sure to watch the Health Tree University lesson on this topic in our Cytogenetic Testing course. Is translocation 1416 usually detected at diagnosis, or does it appear after relapse? So in terms of myeloma genomic events, or genetic alterations to the DNA of the tumor cells, we think of two separate general major classes. The first are translocations involving chromosome 14, and the second class generally does not have that. Instead, they have other abnormalities called hyperdiploidy, which means extra copies of the chromosome. So that is, patients will either have translocations of IGH, the chromosome 14, or they will have hyperdiploidy. This event generally occurs early on in the MGUS or smoldering stage. However, it is possible that a patient could acquire it later on, but that's uncommon. So most patients will have these translocations early in their disease. To learn more about hyperdiploidy myeloma, watch the Health Tree University lesson on this topic in our chromosomal and gene abnormalities course. We repeat the bone marrow biopsy throughout the disease course, in part so we can determine if there has been changes to the disease that might indicate a more aggressive type of myeloma. So we do recommend repeat biopsies to see if new genetic abnormalities have appeared. Are there any therapies targeted for translocation 1416? Unfortunately, we do not have any targeted therapies for patients with this specific high-risk marker, 1416. There is only one marker, genetic marker, that we have a treatment that we feel is more beneficial for, and that's the translocation 1114, in which case Venetoclax is a treatment that has been shown to be more effective in those patients. All the other markers are prognostic, which means they give your physician and yourself some indication as to whether or not the disease is going to be more challenging to treat or not. Sometimes we might modify therapy if we know you have high-risk disease, perhaps be a little more aggressive, maybe use four drugs instead of three drugs at the beginning of your treatment. Understanding the genetics of your myeloma is crucial. Knowing your risk status can help guide your decisions about treatment and maintenance therapy, and it may also reveal a targetable mutation. To track your genetic profile, sign up for a Health Tree account. Once your medical records are connected, you can view your genetic profile by clicking the Track My Disease button on your dashboard. You can also find personalized treatment options and relevant clinical trials based on your profile. Click the link in the description to join today.