Chromosomes-MPD

Date: Thu, 6 Mar 1997 09:47:05 -0500

From: Norm Freeburg <nfreeburg@CYBERUS.CA>

Subject: to Trish, Re: MYELOFIBROSIS

At 09:38 AM 03/03/97 -0800, you wrote:

>Hello everyone, This is my first attempt at sending a message - hope it

>works ok. My brother was recently diagnosed with myelofibrosis. He is

>58 and lives in Australia. I would like to find out as much as I can

>about this disease. Is it hereditary? Should the rest of the family be

>tested? My father (92 years - living in England) has also recently been

>diagnosed with a bone marrow "problem". They mentioned possible myeloma

>then lymphoma but have not given a definite diagnosis. Both my brother &

>father have had blood transfusions which seemed to help for a short time

>(my brother will be having another this week). Also does anyone know of

>any treatments (other than transfusions) which might help? My brother's

>doctor told him a BM transplant was not a good option due to

>complications which can arise with age. The other strange thing is that

>they have found he has a strange chromasone pattern which has literally

>stumped his doctors -- none of them have seen this pattern before.

>Wouldn't he have been born with that pattern? I did not think

>chromosone's could change! Anyway, I would appreciate any insight on MF.

> My brother's outlook is very positive. Thank you all....Trish.

>

>

Trish,

Welcome to the group and thank you for your note!! We have many

online with myelofibrosis (or AMM); some also in Australia. My husband has

polycythemia vera so I am not really current on MF/AMM. Hopefully some

others can give you more answers. Keep searching and asking lots of

questions. We do have some with MF online who are on interferon, others

erythropoietin, and others an androgen (or danazol) with a corticosteroid (like prednisone) -- all these have been used for MF/AMM - depending somewhat on how the disease presents in an individual (high or low platelets & white blood cells, etc.).

Autologous stem cell transplants is another "newer" therapy that some in the group have had. Dr. Silver in

New York (Cornell) has a new protocol using currettage and stem cell

"rescue" for MF/AMM. (We have a review of this on the webpage.) Also on the webpage

is an abstract of a Greek study using

a combination of some of the above. Some newer research involves

interleukins and gene therapy.

Chromosome abnormalities can appear as part of the progression of a

disease - acquired (or sometimes caused by an agent used to treat the

disease - such as chemo). The only consistent chromosome abnormality found

in the myeloproliferative disorders is the Philadelphia chromosome in

chronic myelogenous leukemia (CML) and even this has more recently been

found to not always be the case (now the actual DNA or RNA gene arrangement

has to be checked to rule out CML). There are other common chromosome

abnormalities that "pop up" consistently in the myeloproliferative

disorders, but none that show up, for example, in ALL MF patients, or ALL PV

patients, etc. Indeed, not that many MPD patients show any abnormalities

though this increases as the disease progresses. Myelofibrosis/myeloid

metaplasia DOES have the largest number who show chromosome abnormalities -

44 to 50%.

As technology continues to improve in this area - it may be that all

MPD patients WILL have abnormalities identified. This is very important in

the prospect of treating the disease - for example, with gene therapy. It is

already helping to identify HOW a patient's disease might progress and

respond to treatment. However, it also shows the complexity and difficulty

of treating & diagnosing the myeloproliferative diseases since the

abnormalites are not the same in each patient. Do you know, or you might

want to ask, just what abnormality was found in your brother's chromosomes??

Although we are all supposed to start out with 23 pairs of

chromosomes in each of our cells - as the DNA has to copy itself and

transfer this info to make new cells - and this occurs billions of times in

our body - the potential of an abnormality occurs. A portion or segment of

a gene (the genes contain the DNA on each chromosome) can be deleted or

transferred to a "wrong" location when it is copying itself to make new cells.

Please let us know if we can help in any way. Best to you and your

family.

Ruth