monosomy 13 Archives

Transcript:

Donna Catamero:

So, FISH is a cytogenetic technique. So, what we do is, when we do the bone marrow, we send that off and we look at the genetics. Like I said, it’s a snapshot. And certain mutations will put patients in different risk stratifications, so we normally do this at the time of diagnosis and then with each relapse.

In a FISH test, a bone marrow biopsy is taken to map out the genetic material of a cell using fluorescent dyes. These dyes show specific parts of chromosomes and help locate genetic issues like 11;14 translocation, 17 deletion, and others that are important in determining multiple myeloma treatment. If you have not had a FISH test, make sure to ask your doctor if the test should be performed to aid in your diagnosis and treatment.

Lisa Hatfield:

The first time I heard FISH test I had no idea what my doctor was talking about. It was actually a nurse practitioner who works with my myeloma specialist who said, “Your FISH test came back, and you have two abnormalities. One of them is called translocation 11;14, standard risk. And one is called monosomy 13, which sometime in the past used to be considered a higher risk but apparently it’s not anymore.” She was trying to explain this to me. I had no idea what she meant what a FISH test was. As time went on and I started to study a little bit more, do a little bit more research on myeloma, I understand the significance and the importance of having a FISH test done for anyone who’s getting diagnosed at a local hospital or community cancer center. I encourage everyone to make sure they can have a FISH test done even if that means consulting with a myeloma specialist to ensure that they can find those cytogenetic abnormalities or to test for those. Because that will help guide your treatment and your prognosis going forward. You want to know what those cytogenetic abnormalities are. They’ll be tracking those over time. So a FISH test is kind of confusing. But without going into too much detail, it’s an interesting test that they can do. It’s very helpful if it’s done at diagnosis. Important to be done at diagnosis, so those genetic abnormalities can be tracked over time through further testing.

Is Monosomy 13 a High-Risk Marker for Myeloma? from Patient Empowerment Network on Vimeo.

High-risk multiple myeloma has some markers, but is monosomy 13 one of these markers? Dr. Sikander Ailawadhi from the Mayo Clinic explains the monosomy 13 marker, chromosome mutations, and how specialists locate high-risk markers.

Download Guide

Descargar Guía

See More from START HERE Myeloma

Related Programs:

Are Fluctuations in Light Chain Values Common in Myeloma Remission?

How Often Does Amyloidosis Occur in Myeloma Patients?

Myeloma Patient Expert Q&A: Start Here

Transcript:

Lisa Hatfield:

All right, what are we learning about monosomy 13 in myeloma, is it a high-risk marker for myeloma?

Dr. Sikander Ailawadhi:

So, Lisa, I think that’s an extremely important question because there has been historically a lot of discussion about a deletion 13, monosomy 13 deletion 13, meaning a portion of the 13th chromosome missing. Monosomy 13 meaning one…so half of the chromosome missing, because everybody has two of each chromosome, one set from the father, one from the mother, so one set is missing, that is monosomy, or one arm is missing its monosomy if a portion of the chromosome is missing deletion.

Historically, quite some years ago, deletion 13 or monosomy 13 was in itself a high-risk marker, then the drugs or called the pareso inhibitor family, in which one of them is bortezomib (Velcade) came about, and it showed that whether the patient had deletion 13 or no outcomes were similar when they got bortezomib, so it was no longer a high-risk marker. In current day and age, there are certain mutations that are considered high risk, monosomy 13 or deletion 13 by itself is not considered a high-risk marker, but the co-presence of deletion 13 or monosomy 13 with some other mutations is considered higher risk just because it is telling us about more widespread genetic damage in the myeloma genetic material.

So, for example, if somebody has a mutation called 1Q gain or 1Q+, as some patients may read in their FISH report, if that one to gain co-exists with deletion 13 or month, the risk of that one can is even higher. So by itself modulators, but it’s coexistence, but some other mutations bring up the risk category higher.

Lisa Hatfield:

Okay, thank you. And just to clarify for maybe somebody who’s just learning about their myeloma diagnosis and the cytogenetics of that, when you’re talking about these mutations, are you specifically talking about these mutations are only in the myeloma cells, they aren’t all in their body, and they’re overall in any other cells, just the myeloma cell.

Dr. Sikander Ailawadhi:

Absolutely, you’re spot-on. So these mutations that are tested in the abnormal plasma cells from the bone marrow, which the term used for that is somatic mutation, disease-related mutations in the disease cells, these are not mutations that we were born with or we inherited.

So if somebody was to take a sample from a healthy blood cell or a myeloma patient’s swab from the mouth or a spit sample that is not expected to carry these mutations, it is only the cancerous abnormal plasma cells from the bone marrow or a myeloma cell that have these mutations.

Tag Archive for: monosomy 13

What Is a FISH Test?

Related Resources:

Transcript:

Is Monosomy 13 a High-Risk Marker for Myeloma?

Related Programs:

Transcript:

CONNECT WITH US