Can anyone interpret this bone marrow report?....

[Jacqui]

Hi, just wondering if this sounds like Aplastic Anaemia. MDs has been ruled out from a research study.

Bone marrow trephine - no megakarocytes seen, low amounts of all other cells

10% cellularity.

Bone marrow Aspirate - marrow blasts 2%
- megakaryocytes - reasonable number seen but showing low ploidy
- myelopoesis - reasonable activity but little maturation beyond myelocyte stage. Normal morphology.
- erythropoesis - reasonable number of precursors with mild dysplastic features.
- lymphopoesis - mainly normal but small lymphs
- abnormal cells - no abnormal population seen


My daughters blood counts at the moment are:
Platelets 17
Hb 11.1
Neutrophils 0.6
Lymphocytes 0.3

She also has autoimmune liver disease with cirrhosis and coeliac disease. Liver function tests are stable but blood counts steadily trending downwards. This has been going on for 5 yrs now, initially they thought it was hepatitis associated aplastic anaemia but because the counts were not severe initially, this was disregarded. Eltrombopag was looked at, but cannot be used as may cause fibrosis in marrow and also affect her liver. Drs are thinking about Atg, but again the worry is about affecting her liver. They said she will have to have a liver transplant first before thinking about a bone marrow transplant soon after.
She has just been enrolled on the 100000 genome uk project looking into rare diseases.

Anyone have any thoughts?...... The drs are at a loss on knowing what to do and what she has.


Thanks

[DanL]

Jacqui,

This is a really difficult biopsy result to interpret. The first appearance would be aplastic anemia or hypo-plastic mds, but could just as readily be something affiliated with the auto-immune liver disease. Anytime the marrow struggles, there is a possibility of generating dysplastic cells, which is one of the key criteria for MDS. Problem is that vitamin deficiencies may also cause some of these readings.

With the liver issues, I am not sure which treatments are applicable. Normally some form of immune suppression is utilized for aplastic anemia, and for hypo-mds. Bone marrow transplants are used as potential cures in both cases.

Prior to agreeing to any treatment though, I would suggest that a second opinion might be in order, especially if the doctors you are working with don't handle a lot of bone marrow failure diseases.

[Jacqui]

Thanks DanL for your reply.

There have been many opinions from various drs over the years, hopefully this genomics uk project will be able to shed some light on what's going on. It's very scary not knowing what to do next. The unknown is the worst thing. I just thought someone may have been able to clarify why the megakarocytes show low ploidy and the myeloid cells don't go past the myelocyte stage.

Really appreciate you taking time out to reply.


Jacqui - mum to Olivia aged 14

[Hopeful]

Originally Posted by Jacqui

Thanks DanL for your reply.

There have been many opinions from various drs over the years, hopefully this genomics uk project will be able to shed some light on what's going on. It's very scary not knowing what to do next. The unknown is the worst thing. I just thought someone may have been able to clarify why the megakarocytes show low ploidy and the myeloid cells don't go past the myelocyte stage.

Really appreciate you taking time out to reply.


Jacqui - mum to Olivia aged 14

Hi Jacqui,

I was going to comment that the low cellularity and low blood counts could be AA like. Some dysplasia in the erythroid line can also be seen with AA.

However, I have never seen reference to "ploidy" in AA BMB results (mine or others on this forum). I have never even heard that term before. Also, it is unusual to me that there is a "reasonable number" of megakaryocytes in the aspirate.

I hope you find some answers. I will keep my eyes/ears open to new research that may reference this.