Mast Cell Disorders Forum

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http://mastcelldisorders.wallack.us/yabb/YaBB.pl General Mast Cell Disorders Discussion >> General Mast Cell Disorder Discussion >> Bone Marrow Test Results http://mastcelldisorders.wallack.us/yabb/YaBB.pl?num=1303768393 Message started by jbean on 04/25/11 at 10:53:13

Title: Bone Marrow Test Results
Post by jbean on 04/25/11 at 10:53:13

Hi. Just curious if anybody else has any knowledge of what percent of their mast cells are activated?

Apparently now I do have the ckit also.

Title: Re: Bone Marrow Test Results
Post by DeborahW, Founder on 04/25/11 at 12:20:49

So, what does that mean, Jill?

Title: Re: Bone Marrow Test Results
Post by jbean on 04/25/11 at 15:06:52

I have no idea! Not all that up on this. Maybe more "masto-ey" than before. I suppose I would be since it's been seven years since I had the last one done.

Title: Re: Bone Marrow Test Results
Post by Lisa on 04/25/11 at 17:07:22

As to the c-kit, I'm struggling over that myself Jilly. I believe that if it shows the mutation then yes, that's a major criteria for SM however, the percentage of reactive MCs I've no idea!!!!

Sorry!

My question is, with the C-kit marker, CD117, is that supposed to be negative or is it supposed to be positive with mastocytosis? I'm stuck on that one! :(

Title: Re: Bone Marrow Test Results
Post by Joan on 04/25/11 at 18:17:16

If you mean what percent of the bone marrow is made up of mast cells, then 25 percent or more is diagnostic for SM. The real significance is when a patient shows symptoms of organs not functioning properly, which will be recognizable on a routine CBC, and is rare.

There may not actually be a change in your condition, even though numbers have changed. Mast cells won't be as dense in all parts of the 8-)bone, so BMBs can have different results in different spots. The c-Kit defect isn't easy to find, and many labs miss it. You may have had it for a very long time.

I didn't like getting new results, but keeping those things in mind helped.

Title: Re: Bone Marrow Test Results
Post by Sandi on 04/25/11 at 18:21:46

Isn't the point of the C-Kit mutation is there are medications that don't work with it. I believe it was only patients with aggressive masto and the c-kit with gleevac or one of the other major medications. I could be wrong, Dr Akin I believe was the one that found out whatever med it was that did not work with patients with ckit. In fact not sure they could test for c-kit 7 years ago! Masto info has increased a ton over the last few years! Could be wrong on that too. I miss my brain that could retain everything I learned! Hope you are stable Jilly!

Title: Re: Bone Marrow Test Results
Post by DeborahW, Founder on 04/26/11 at 00:20:20

More than likely Jill's first bmb was with Dr. Akin at Univ of Mich, so I would say that the lab would have done it correctly then....

Title: Re: Bone Marrow Test Results
Post by jbean on 04/26/11 at 02:27:45

I probably should know more about this than I do, but I haven't actually read up all that much on it as I don't want to become obcessive about my disease. Believe me, that's an easy trap to fall into when you work in science for a living. You know just enough to get your worried, but not enough about that particular discipline to make you stop worrying! Very easy to overinterpret when you know too much. Hence the reason I don't dig into these things very often. Not a good idea for me to get to "into it".

I will ask some more questions, but here is what I do know. A biopsy is a "snapshot" of your disease, nothing more. Yes, it will depend on the sampling method, at what stage your disease is at the time of the "snapshot", the preparation of the sample, and finally, the huge variable of the interpretation of the person reading the slides and interpreting the information.

As Joan says above, the ckit is often present in masto patients (but not all) and they also look at how many activated mast cells are in the bone marrow. To tell if they are activated, they run other tests on them using a flow cytometry technique. Basically, they stain your cells with a stains that may recognize specific "markers" or proteins on your cells. One of these is CD25, which is a marker for this, another one they sometimes look at is CD117(this is just a marker for mast cells, doesn't tell you necessarily whether they are "good" or "bad", just tells you that you are actually looking at a mast cell). So you see, first, they have to identify the mast cells themselves. Another component of this process is to do a preparation of your biopsy on a slide and place it in the microscope. They use stains for this as well. The "bad" mast cells have a certain "morphology" or "appearance", and their are certain criteria for examining under the microscroscope. At different stages of division, activation, or abnormality, cells can appear different, and it is this appearance that also is used in classifying your condition.

So, as you can tell already from just this description, it is important to have somebody who is familiar with the disease take a look at all of this as they are used to seeing it and are familiar with how it looks.

And, as Joan says, it also depends on whether there is involvment of other organs and blood components. Yes, the CBC is a good indicator of whether other blood components are involved, which requires a different therapeutic approach. This is also why they often run liver tests also, as the liver can be involved as well if it starts to bother your other organs. So often, you will get a tryptase, CBC, and liver panel run when you have your checkups. They are getting another "snapshot" of your condition.

I was intitially diagnosed with this at the very earliest stages of the disease, only two months after I developed symptoms of it. Probably, more early than most of you. I was fortunate enough to get connected with an intake doc at Mayo who had a patient with this before, got straightaway connected with Dr.s Akin and Butterfield. I work in science and was familiar with what places to go to get good dianostics. I had very few activated cells, with only a modestly elevated tryptase. I met a couple of the minor criteria.

Since it has been so many years since my early "snapshot" I would not be surprised to see changes. And, as Sandi points out, the information about it has changed much since then. The markers that they look for can have information of some value, but it depends very much on the individual patient's presentation. One thing is for sure, we masto patients are all quite unique, which makes this disease a very challenging one to manage.

With the advent of new technology in molecular medicine, new medications are being developed that target specific genetic abnormalities in cells. This is a new line of targeted therapy that has been successful in treating some cancers. For example, the drug Gleevec (Imatinib) was developed to treat some types of blood cancer cells that have a specific mutation. As these drugs are developed, there may be "crossover" with other types of neoplasms that have the same genetic error or "mutation."

Whether or not a person would benefit from this type of therapy depends on several important factors. First, they need to have that kind of mutation, then, it would depend on whether or not they are managing the disease o.k. without the therapy, how many "bad" cells they have, whether or not they are affecting other organs, and whether the drug would really help get rid of it, or just hold it at bay as a "bandaid." The side effects of the drug or possible unknown bad effects would have to be balanced against the severity of the disease. And, for most people, masto won't actually kill you. As one hematologist aptly put it for me "Don't think of this as a cancer. It probably won't actually kill you, but it can make you awful miserable." :-/

So, in my case, we are trying to figure out if this is just a "flare up" where the cells are behaving badly, or if the cells have changed somehow, or if there are just more of the little guys in the body right now who have decided to throw a "hissy-fit" and fire off. This is kind of the umbrella of uncertainty we all live under, but that's the way it is.

Get's old doesn't it?

Title: Re: Bone Marrow Test Results
Post by Lisa on 04/26/11 at 02:42:26

jbean wrote on 04/26/11 at 02:27:45:

Get's old doesn't it?

Boy did you say a mouth full, Sister!! :P

Jilly, great lesson!! Thanks for a good class on this! I really appreciate it and I know the others do too! You just gave me the confirmation as to an email I just sent to the ONLY hematologist in Brazil who really knows masto. He's worked with Dr. Akin and taken a patient of his in the past and I've written to him asking for his support. We're going to redo a BMB to send to Dr. Escribano because the suspicion in my case is that I've got the MMAS form of masto. Everything lines up with this but due to how rare those MCs are within the bone marrow, this isn't done but in about 2 or 3 labs around the world. The NIH is one of them, Dr. Escribano's is another and I think over in Germany may be the 3rd with the 4th probably in Sweden. I was going to have my hematologist do the work since she got it right the last time, but I think that I'm being foolish! This hematologist is financially unaffordable - I have to pay for his consultation privately and in total it may cost up to a thousand dollars for him to do this, but to send a poor sample off to Dr. Escribano is absolutely a crime and I need to make sure it's PROPERLY done by someone who KNOWS what he's doing!!

So, thanks for that affirmation that I'm doing the right thing! :)

Lisa

Title: Re: Bone Marrow Test Results
Post by DeborahW, Founder on 04/26/11 at 04:14:32

Lisa, what is MMAS?

Title: Re: Bone Marrow Test Results
Post by Lisa on 04/26/11 at 05:57:34

There are two names for this actually - Monoclonal Mast Cell Activation Syndrome and Monoclonal-MCAD. It's a new form found by Dr. Akin I believe about 4 years ago. It shows pathological changes within the body that are typical to the neoplasm such as the lymphocytic aggregates within the bone marrow, but the mast cells are normal, what few can be found It has a normal tryptase, raised histamines or prostaglandines. This patient has no signs of angioedema or urticaria and yet has severe cardiovascular symptoms like syncope. It runs more with male patients than with female patients.

In order to diagnose these patients the bone marrow biopsy must be put through a very special flow cytometry process in which the marrow is very purified in order to find the few mast cells that are present so that then they can test these few mast cells.

Dr. Escribano put our a special article this year profiling the difference between the SM patient, the MMAS patient and the non-clonal MCAD patient. They consider this patient as belong to the SM category due to the fact that there are indeed clonal properties with these patients.

This describes my case to a T!

Title: Re: Bone Marrow Test Results
Post by Godsgal on 04/28/11 at 12:42:06

Quick question and sorry to but in but how do you get tested for the Ckit thing?

Title: Re: Bone Marrow Test Results
Post by DeborahW, Founder on 04/29/11 at 16:37:29

You test for ckit through the bone marrow biopsy. However, it has to be a lab that knows how to correctly test for it.

Title: Re: Bone Marrow Test Results
Post by Riverwn on 05/02/11 at 04:39:44

I always feel so honored to be friends with some of the brightest minds around--all of you!

Lisa, do you think its ok to post that new article from the German researchers here? I think its interesting to see them say that the mast cells exist sporadically in the bone in clumps and they will totally miss them in one out of six BMBs. Also that the CD117 seems to disappear then reappear again in some forms of masto so the results of neg on the CD117 should be retested again at a later time.

Hugs
Ramona

Title: Re: Bone Marrow Test Results
Post by Lisa on 05/02/11 at 12:36:30

YES!!!!!!!!!!!!