39 replies to this topic

[sarah1403989277]

any body out there that has cmlPH and mds. i am told im a rare case. i have been on tasigna gleevec before that now i am going on sprycel. hope something works. on tasigna i was in a holding pattern. im a little scared here. i was diagnosed 10/09.

[Trey]

What chromosome mutations or other symptoms show that you have MDS?

[sarah1403989277]

i just had a bone marrow aspiration and i had one a year ago. it shows i also have mds.they also did a fish test. the marrow shows dysmegakaryopiesis and dyserythropiesis consistent with mds.i hope this answered your question kind of. so far i have been on gleevec it quit working so they did my first bma and it showed i also have mds so i went to tasigna now it shows no change so i go on spyrcel, hope it works,

[Trey]

The reason I ask is that some Oncs do not understand that the TKI drugs cause "dysmegakaryopiesis and dyserythropiesis".  So unless you have an actual secondary chromosome mutation, it is very possible that your Onc is incorrect about the MDS.

[sarah1403989277]

i have had 2 differnt onc in 2 differnt states do the marrow test and both said i have it i am unsure as 2 how to read the report. and its the labs that r reporting the mds along with my cml+ph

[Trey]

If you have the lab reports, it would be interesting to know what it says.  This could help others in the future who read this.

[sarah1403989277]

how would i read it to get what u want. it is 5 pages long plus 4 pages of blood work. can u teall me what to look for.

[Skittles]

Sarah, I do not have much to offer except to say that you are the second person I have heard of this happening to just this last week.   A  man was diagnosed with MDS this past week.  I do not know him (friend of a friend) but apparently he became ill about 2 weeks ago and a BMB was done and thus the MDS diagnosis.  I know he has had CML for over 10 years now and I believe he also had to switch TKI's at some point.  Would you share what the treatment plan is for you now?  I am praying you will be ok and do well in whatever treatment plan is going to take place.  Please keep us all updated.  We have a very supportive and caring group here. 

Blessings, Skittles

[Trey]

The important part would be the bone marrow biopsy report.  There would be a paragraph that states the findings that led to their diagnosis conclusion, and would include the "dysmegakaryopiesis and dyserythropiesis" wording and list the issues found in the bone marrow (including the might include things like a 46XX;t(9;22)...... in it. 

[sarah1403989277]

at this point i will be starting sprycel 100 once daily. i was on tasigna 200 a day. i could not tolerate more as my counts went way down. but it was not working to get into remission. so my onc thinks this new med might just do it. i am thinking maybe i need to go to a cancer center. my onc is a blood cancer

[Skittles]

If I were you I would definitely seek out the opinion of a cancer center.  Having the CML diagnosis is bad enough but with MDS thrown in as well I would want to be sure it was treated promptly and correctly from the start.  I hope you will continue to share with us what is happening as we are all here to support each other.  Wishing you the best. Skittles

[sarah1403989277]

iam going to ask my dr to refer me to either portland oregon or seattle wash

[Skittles]

Good luck Sarah!  Skittles

[sarah1403989277]

thank you

[sarah1403989277]

hey trey just fyi i was dx with mds way b4 i was put on tasigna or started sprycel. i was on gleevec when they found with a bone marrow test

[Trey]

I think it would be helpful for others to know what the docs said in your report that confirmed the diagnosis

[sarah1403989277]

ok trey i will try and do this!

cbc-wbc 2.8,rbc3.27,hgb 12.6,hct 36.6 mcv 111.9,mch 38.5,mchc 34.4,rdw 15.4 plt 73,mpv 13.2 manual differential segemented neutrophils 31% band neutrophils 1%lymphocytes 61% monocytes 4% eosinophils 3%

bone marrow differential blasts<1%promyelocytes 4%myelocytes 12%metamyelocytes 8% neutrophils 12% segemented neutrophilis 6% monocytes 2% eosinophils 7% lymphocytes 14% plasma cells 1% erythroid precursors 34% myeloid to erthroid 1.5;1

abnormal fish result for variant bcr-abl gene rearrangement

of a total 600 interphase nuclei 10% showed an abnormal 2r 2g 1f 2a fushion positive signal pattern.the abnormal result confirms the cytogenetic finding and is consistent with the presence of a bcr-abl1 fushion positive cell clone as a result of a three way translocation between 9q 22q and 15 p

history of cml and mds

result

47,xx+8[12] /46,xx,t[9,22,15][q34;q11.2;p11.1][8]

pathologic findings

peripheral bloob red cell macrocytosis,leukopenia with mild absolute neutropenia,moderate thrombocytopenia

bone marrow ,normocellular bone marrow with dysmegakaryopoisis and dyserythropoiesis consistent with mds,mild eosinophilia,adequate storage iron

comment=the morphologic findings of dysmegakaryopoiesis and dyserythropoiesis in this bone marrow specimen are compatible with this patients reported history of mds

[Trey]

I am glad you posted the information, since I doubt your Onc has adequately described your diagnosis to you.  You have an unusual Philadelphia Chromosome that is a 3-way translocation, not the "normal" 2-way translocation.  Most CML cases have the translocation between chromosomes 9 and 22, but you also have chromosome 15 involved.  So for you, the Philadelphia Chromosome has swapped pieces of 9, 15, and 22 as shown by the 46,xx,t[9,22,15][q34;q11.2;p11.1][8].  The [8] at the end shows that  8 of the roughly 20 cells examined from the marrow under a microscope had this Philadelphia Chromosome.  Your FISH shows 10% of these same leukemic cells.  You also have Trisomy 8, as shown by the 47,xx+8[12].  The 47 means you have an extra chromosome (should normally read 46), and the +8 says it is an extra copy of chromosome 8 that is added.  So most have 2 copies of chromosome 8, but you have 3 of them in some cells (the [12] shows it was found in 12 out of 20 cells examined).  Otherwise, your Eosinophils are rather high. 

The Trisomy 8 occurs in some who take TKI drugs, and may possibly be caused by the drug in some cases.  So although a person would prefer to not have it, by itself it is not always necessarily a serious issue.  But the 3-way translocation is another matter.  The involvement of chromosome 15 in the CML Philadelphia Chromosome is very rare.  There is no data that I could find to show the expected outcome for this complex translocation.  Because of this, you should only be treated by a true CML specialist.  So the 3-way translocation Philadelphia Chromosome is an issue that requires watching carefully.  Sometimes the TKI drugs can overcome this anomoly, but sometimes it takes more drug or a stronger form (such as Sprycel).  The good news is that you have shown at least some response to TKI drugs, or your FISH would be much higher.

The MDS issue is unclear.  This says you have a history of MDS, but this report does not have anything that clearly shows such a diagnosis.  The reason I have been asking about the MDS issue is that some Oncs would see the side effects from the CML + TKI drug and conclude that these is MDS involved.  That is not the case with most, but rather simply the effects of the CML + TKI drugs on the blood production and blood "quality" (i.e., the "dysmegakaryopoiesis and dyserythropoiesis" which simply means low production and poor quality pre-platelet cells and RBCs).  So, if MDS is diagnosed based solely on these factors, it could easily be a wrong diagnosis.  For the diagnosis to be MDS, one might expect to see chromosome 17 involvement along with the blood quality issues, but for your case, there is none reported.  But if there are other factors from previous BMBs, that could possibly lead to a different interpretation.  I would ask the Onc to explain precisely what led to the MDS diagnosis, and if it is only the issues described here, I would personally doubt the diagnosis.  Please understand that I simply don't want you to needlessly worry that you have two serious issues.  Maybe you do, but very possibly maybe you do not.

I see that you are planning to ask for a referral to OHSU for a second opinion.  That is absolutely necessary in your specific case.  Personally I would pefer Dr Talpaz at Univ of Michigan, but OHSU is good if closer.  This is not meant to bring distress to you, but you must realize that your case requires very close monitoring and a highly trained CML specialist to understand your treatment needs.  You should have been put on Sprycel from the beginning.

Additional information:

http://www.medscape....warticle/463870

[sarah1403989277]

trey is tasigna a tki. cos i was taking it for a year and have only taken 2 tabs of sprycel. and it was 2 weeks abter the bone marrow test that i was started on sprycel

[sarah1403989277]

cytogenetic analysis shows the presence of 2 abnormal cell clones.the first clone contains a copy of an extra copy of chromosone 8[trisomy8]in 12 of 20 cells examined.the second clone shows what appears to be a 3-way translocation between chromosomes 9,22,and 15[ 8 of 20 cells examined ] resulting in a phialdelphia chromosone rearragement.normal metaphases were not found during the course of analysis.

trisomy 8 and translocation between 9qand 22q are consistent with the patients clinacal history of cml and mds.

gating is preformed on lymphocytes id by cd45 expression and side scatter representing approx 15 % of the events.no abnormal or restricted antigen expression is identified,t cells [cd3,4/8,5, 7 positive] represent 85% of the lymphhs,with a cd4;cd8 ratio of 1.3;1 b cells [cd19,20 positive] represent 10% of the lymphs,no kappa or lambda light chain restriction is identified.true killer cells [cd3 negative,cd 16,56 positive]represent approx 5% no increase in immature cells identified