What genetic / genomic information does a BMB give that bloods don’t?

[Rachelthepotter]

Hi. I’ve been dipping getting in and out of this friendly and helpful group since I discovered it

I have PMF, diagnosed 5 years ago and am having a hard time getting accurate information about my mutation status.

The last two BMBs were poor samples - short or crushed cores. Only found out when I tracked down the results. I have the JAK 2 mutation, and at times TET2 , trisomy 8 and ASXL(?) have been mentioned on reports. Recent letters between consultants only mention JAK2

Can that information be obtained from blood samples, or is it only BMBs ?

I’d like to get an accurate update on my mutation status, and if an effective BMB is the only way to get it then I’ll see how I can arrange that.

As I’v shared here before, ruxolitinib gave me nasty skin cancers. Monitoring and surgery plus radiotherapy deals with them.

I’m also needing more frequent transfusions to maintain any kind of decent QoL. The haematologist I see whom I thought was prepared to try Fedratinib for me has changed his mind. ☹️

Its the anaemia ( which both the ruxolitinib and the MF contribute to) thats related to fatigue snd general grottiness. Some of the newer drugs don’t seem to cause so much anaemia. But as the posts here are informing us having the right genetic info is important.

Rachelthepotter

[katiewalsh]

Dear Rachel, I’m afraid I can’t answer your question but want to say how sorry I am about the troubles you’re having. Hopefully some bright soul on here can be helpful. Katie

[JP1952]

Hi Rachel,It certainly sounds like you're having a hard time. I am feeling for you. Unfortunately, I am not knowledgeable enough to offer any advice, although having had 2 BMB myself I was told very little about their results. I asked and was told there was no fibrosis.

Is it possible for you to request a second opinion? I hope somebody else on here can offer more.

[hunter5582]

I believe that you can get the same genomic information from blood work as you do from a BMB. There have been some reports of differences in allele burden comparing a BMB to blood samples. If you are looking for the complete profile including the non-driver mutations then this can be done with a blood sample. This is one example of that kind of study.files.labcorp.com/labcorp-d...

Dr. Mesa just reviewed treatment options for MF patients at the April 15 MPN conference.

healthunlocked.com/mpnvoice...

Ruxolitinib - Standard 1st line tx for MP

Fedratinib - for proliferative MF when RUX not effective/tolerated

Pacritinib - for cytopenic MF or 2nd line myeloproliferative MF

Momelotinib - will be for MF with anemia.

There are more current options and emerging options in clinical trials. A clinical trial is also an option if available where you live.

Hope you find something suitable and more tolerable soon.

[Rachelthepotter in reply to hunter5582]

Thanks Hunter. Can you explain what proliferative MF is? It’s a term I haven’t come across. I found the reading Mesa talk, and the synopses produced on this site very helpful. I am concerned at becoming transfusion independent, but it does seem as though at the moment, transfusions are necessary for me to have any kind of activity level.

I’ve got a face-to-face appointment with my haematologist booked for June or July and I’ll see if I can persuade him to talk me through what drugs might be available to me. He mentioned Fedratinib earliet , , but then backed off. Don’t know why.

[hunter5582 in reply to Rachelthepotter]

Myelofibrosis can be either proliferative (makes too many of one or multiple types of blood cells) or cytopenic (does not make enough blood cells). There are different meds that work better for different manifestations of MF. This is why the emerging treatment options are so important for treating MF. Pacritinib (for cytopenic MF) and Momelotinib (MF with anemia) will expand and improve treatment options for MF.

Hopefully you are seeing a MPN Specialist rather than a regular hematologist. It is important to see a doc who is up-to-date on MPN treatment options. Regardless, there is no need to persuade the doc to review options. This is a requirement in providing your care. Suggest you generate a list of the options you know about and insist on reviewing the risk/benefit profile for each of the choices. Ultimately, you are the one in charge of this appointment. It is your role to set the agenda. I always do this in writing and give the doc a copy at the beginning of the appointment.

All the best.

[gvibes]

Hi Rachel, Genetic testing can be done on either blood samples or bone marrow aspirate samples. The specific genetic test will be selected based on what the doctor is looking for. In my case like most MPN patients, a blood test was done to determine if I had v617f mutation when they first suspected I had an MPN. Since I was negative for the v617f mutation, a blood test was again performed for a "next generation sequencing 75-gene Heme panel" to get an understanding of other relevant mutations. In my case, this analysis found an exon 12 mutation that was consistent with a p-vera diagnosis. They also found a tet2 mutation that is of concern in MPN patients. A few weeks later I had a bone marrow biopsy, and the same test (75-gene panel) was performed on aspirate drawn from the bone marrow. What was interesting in my case, was the variant allele frequency (VAF) for the exon 12 mutation was 5% for the blood and 35% for the aspirate. Not sure what and why of this, but I will ask my MPN doc next time I see him. There is another posting about this. By the way, the 75 gene panel is expensive so you probably want preauthorization (I'm in US) because it has been denied by my health insurance.

The bone marrow biopsy also samples the bone marrow itself and a pathologist does a descriptive analysis of the bone marrow - not sure why the sampling is difficult in your case. In my case, this description was done by the hospital lab that my hematologist is employed by. My MPN doc, once he was on board, had me send the slides to his pathologist at a well known teaching hospital for another opinion - making me think there's a certain amount of subjectivity in all this. The 2nd opinion basically confirmed the first pathologist's interpretation.

I think you are correct going deeper in all this. I have gotten all the genetic reports and read them and interpreted them as best I could (new language).

I hope things work out for you. take care.

Steve

[Rachelthepotter in reply to gvibes]

Thanks, Steve. So it looks as tho the genetic info can be got from a blood test. When I’ve had bone marrow biopsies, there is no aspirate produced. I agree that there must be some subjectivity in interpreting the bone marrow results, because I understand that the amount of fibrosis and so forth will vary from place to place in the hip bone.