In an Article in the blood journal (copyrighted in 2011), I read the following:
"Nowadays, cytogenetic evaluation is mandatory in all patients with newly diagnosed multiple myeloma, and should always include interphase FISH ..."
Does anyone know who mandates this and why? Does this presuppose mandatory cytogenetic testing and what would this consist of (bonemarrow biopsy?) ?
Kate
Forums
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Re: Mandatory cytogenetic evaluation?
Dear Kate,
Cytogenetic evaluation simply means looking for changes that occur in the chromosomes of the myeloma cells themselves (not anything inherited). Since cytogenetic evaluation looks at chromosome changes in myeloma cells, it does in fact require a bone marrow sample to do the analysis. There are 2 ways of looking for chromosome abnormalities in myeloma cells that are routinely used in clinical practice. There is what is known as conventional cytogenetics, in which the chromosomes of growing and dividing myeloma cells are looked at under a microscope and any abnormalities documented (extra chromosomes, missing chromosomes, 2 chromosomes that have been spliced together). Then there is FISH testing, in which fluorescent probes are used to screen myeloma cells for specific chromosome changes. FISH testing is a more sensitive way of screening for chromosome changes in myeloma cells than conventional cytogenetics.
Why is this important? There are specific chromosome changes that are associated with better risk myeloma and other changes that are associated with high risk myeloma. For example, extra copies of chromosomes in the myeloma cells (also called hyperdiploidy) is considered a good risk feature. Chromosomes 11 and 14 splicing together [often written as t(11;14)] is also considered good. A missing portion of chromosome 17 [often written as del(17)] is considered high risk as is extra copies of a portion of the long arm of chromosome 1 [often written as gain(1q)]. Chromosomes 4, 16 or 20 splicing with chromosome 14 [often written as t(4;14), t(14;16), or t(14;20)] is also considered higher risk.
The patient is always the boss and nothing is mandatory. The author was directing that statement at treating physicians. At the time of a biopsy to diagnose myeloma, a physician really needs to get this additional information to help inform treatment decisions and get a better sense about prognosis.
I hope this helps. Take care!
Pete V.
Cytogenetic evaluation simply means looking for changes that occur in the chromosomes of the myeloma cells themselves (not anything inherited). Since cytogenetic evaluation looks at chromosome changes in myeloma cells, it does in fact require a bone marrow sample to do the analysis. There are 2 ways of looking for chromosome abnormalities in myeloma cells that are routinely used in clinical practice. There is what is known as conventional cytogenetics, in which the chromosomes of growing and dividing myeloma cells are looked at under a microscope and any abnormalities documented (extra chromosomes, missing chromosomes, 2 chromosomes that have been spliced together). Then there is FISH testing, in which fluorescent probes are used to screen myeloma cells for specific chromosome changes. FISH testing is a more sensitive way of screening for chromosome changes in myeloma cells than conventional cytogenetics.
Why is this important? There are specific chromosome changes that are associated with better risk myeloma and other changes that are associated with high risk myeloma. For example, extra copies of chromosomes in the myeloma cells (also called hyperdiploidy) is considered a good risk feature. Chromosomes 11 and 14 splicing together [often written as t(11;14)] is also considered good. A missing portion of chromosome 17 [often written as del(17)] is considered high risk as is extra copies of a portion of the long arm of chromosome 1 [often written as gain(1q)]. Chromosomes 4, 16 or 20 splicing with chromosome 14 [often written as t(4;14), t(14;16), or t(14;20)] is also considered higher risk.
The patient is always the boss and nothing is mandatory. The author was directing that statement at treating physicians. At the time of a biopsy to diagnose myeloma, a physician really needs to get this additional information to help inform treatment decisions and get a better sense about prognosis.
I hope this helps. Take care!
Pete V.
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Dr. Peter Voorhees - Name: Peter Voorhees, M.D.
Beacon Medical Advisor
Re: Mandatory cytogenetic evaluation?
Hi Dr. Voorhees,
>>The patient is always the boss and nothing is mandatory. The author was directing that statement at treating physicians. At the time of a biopsy to diagnose myeloma, a physician really needs to get this additional information to help inform treatment decisions and get a better sense about prognosis.>>>
Well, I am glad it is still the patient's choice to decide whether to go for option 1, 2 or 3. But, being aware of the Cancer Registry, which mandates records be kept on each cancer patient and his/her treatment etc., I was wondering if congress or the Center for Disease Control (CDC), might have enacted something new that I missed
Thank you Dr. Voorhees for your elaborate reply on cytogenetics.
Kae
>>The patient is always the boss and nothing is mandatory. The author was directing that statement at treating physicians. At the time of a biopsy to diagnose myeloma, a physician really needs to get this additional information to help inform treatment decisions and get a better sense about prognosis.>>>
Well, I am glad it is still the patient's choice to decide whether to go for option 1, 2 or 3. But, being aware of the Cancer Registry, which mandates records be kept on each cancer patient and his/her treatment etc., I was wondering if congress or the Center for Disease Control (CDC), might have enacted something new that I missed
Thank you Dr. Voorhees for your elaborate reply on cytogenetics.
Kae
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Kate - Name: Kate
- Who do you know with myeloma?: myself
- When were you/they diagnosed?: Dec. 2012
3 posts
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