14 replies to this topic

[Erin]

My brother has just been diagnosed with Philadelphia-Negative Chronic Myeloid Leukemia.  We are devastated because we know it is the rarest and most deadly.  They retested just in case.  Does anyone know if they ever make a mistake on the tests?  I can find very little about this disease.  Maybe three or four hits on the internet and that's it.  The doctor was so sure that it would come back positive he was stunned when it didn't.  He immediately ordered new tests.  The first one he sent to Indianapolis.  Now we are waiting for Mayos to read it.  Then he sent more blood work to Indianapolis.  Any information would be appreciated.

[Trey]

Ph- CML is rarely diagnosed.  Since there is no Philadelphia Chromosome and therefore no BCR-ABL (which are the hallmarks of Ph+ CML) diagnosing it is tricky.  Some would even say it is not even CML but rather is a form of some other leukemia similar to CML but in its own category under Myeloproliferative Diseases (MPDs).  Our CML drugs do not work for this since they target BCR-ABL which is produced by the Philadelphia Chromosome.

I realize you came for answers but this subject requires some more information before any useful information can be given.  So pardon the questions so we can hopefully provide some more useful information. 

I would first ask how it was diagnosed.  For Ph+ CML a Bone Marrow Biopsy (BMB) reveals the Philadelphia Chromosome, and a FISH and/or PCR will confirm CML.  But in Ph- CML a BMB does not show a Philadelphia Chromosome, and FISH and PCR do not work for Ph- CML.  What did his BMB report say -- were there any chromosome abnormalities?  If not, what was the basis for the diagnosis other than high white blood count?  It is very important to understand why the Onc believes this is Ph- CML since it can be misdiagnosed.

So if you can let us know what the tests showed, and why the Onc concluded this is Ph- CML, we can help further. 

[cousineg]

In Canada, there is a link: Atypical chronic myelogenous leukemia

Ce message a été modifié par : Survenant

[cousineg]

Story of the unexplained healing of a aCML patient   A diocesan investigation was opened in France, by the Bishop of Créteil, Bishop Michel Santier on unexplained healing occurred near asking the intercession of Blessed Jerzy Popieluszko Polish priest, revealed the Cross.    A man hospitalized Albert Chenevier Hospital Créteil , near Paris , was reached eleven years of " atypical chronic myeloid leukemia ." The prognosis was now engaged. A priest who returned from Poland and confided to the intercession of Fr Jerzy Popieluszko gave him the sacrament of the sick . He left with the image of a dying P. Jerzy and prayed for his canonization with the wife of the patient and a religious chaplaincy .   The patient came out of the coma and the hospital cured. The medical team at Henri Mondor Hospital noticed later that the cancer followed for a decade had disappeared a medically inexplicable phenomenon.   This healing occurred September 14, 2012 , the anniversary of the birth of Blessed martyr , and the anniversary of the priest who gave the sacrament of the sick . Moreover, a year ago , back in Poland , Mgr Santier had entrusted his diocese to prayer P. Jerzy , according to the same source.    http://www.cite-cath...hp?f=93&t=28870

Mais en novembre 2011, c'est la descente vertigineuse. Marc ne peut plus marcher, il subit trois chimiothérapies et reçoit une greffe de moelle. En août 2012, le verdict des médecins est sans appel?: il n'y a plus rien à faire, les cellules cancéreuses ont envahi tout son corps. Extract of http://www.la-croix....3-12-19-1078518

Ce message a été modifié par : Survenant

[cousineg]

In my case, the BCR/ABL test was negative in August 2004. I had high platelets. The doctors told me that I didn't have CML but ET (Essential thrombocythemia)    In June 2005, the BCR/ABL test became positive. So the diagnostic changed to CML  and I started Gleevec. Your brother needs to repeat the BCR/ABL test to be sure that it's Ph- CML. In this case, I will prefer a FISH test rather than a PCR test. Sometimes, there are some false results in PCR tests. I will redo the Bone Marrow Biopsy (BMB)  by another laboratory if possible

[Erin]

This may be a duplicate reply--stil getting familiar with the site.  I know my brother had the FISH test if that's the one with the bone marrow.  The doctor said something about using probes.  Indiapolis said it was Phil. Negative so he sent it to Mayos.  We still haven't heard.  Then he took more blood work and sent it to Indianapolis.  His heart has been acting up at the hospital so the heart doctor said it was mild and probably caused by the high white blood cells.  he had 130,000 wbc when he was first tested.  They went up to 150000 and they doubled his hyperia (not sure if this is spelled right).  He said he felt better today.  I am keeping a list of your suggestions for him when he meets with doctor again.  Thank you and everyone so much.

[Trey]

The high WBC  shows he has a myeloproliferative disease (MPD).  The definitive test for which MPD disease he has is the bone marrow biopsy (BMB).  If he had to lie on his side while someone poked a big needle into his hip, that is a BMB.*  If not, it needs to be done.  There are many types of FISH, and I assume he had a BCR-ABL FISH and it was negative, although tests can fail and may need to be re-accomplished (you said a re-test was done, but did not say which test(s).  A negative FISH is not sufficient to properly diagnose a patient.  He must absolutely have a BMB done. 

You mentioned a drug he is taking.  It would actually be Hydroxyurea (Hydrea).  It is used temporarily to lower WBC until a longer term therapy is decided upon. 

Here are a few questions for his Onc:

1) Was a BMB done?  If so, what was the result?  (Ask for a copy of the report.).  If not, insist on having a BMB.

2) What other tests and re-tests were done?  Results?  (get copies).

3) What led to the conclusion this is Ph- CML?  How sure is the Onc about this?  What else might it be?

I would suggest a bit of caution about the preliminary diagnosis so far.  The Onc just doesn't know at this point, so neither do you.  We can help since we have seen most everything here. 

BMB info:

http://www.webmd.com...tion-and-biopsy

[acb]

Erin,

I noticed you said they are sending the blood to Indianapolis. Is your brother in the hospital now somewhere in Indiana? Are you close to Louisville? If possible, I would suggest that your brother actually visit in person an experienced and reputable oncologist from Indianapolis or Louisville rather than getting second hand information. I would think he could benefit from a second opinion. Dr. Roger Herzig at James Graham Brown Cancer Center in downtown Louisville has many years of experience with CML and other forms of leukemia. I would suspect there are experienced oncologists at IU Medical Center in downtown Indianapolis as well. Obviously, Mayo has a great reputation but I think an in-person visit would be best (rather than sending off blood and getting results second hand).

Also, is the doctor giving him allopurinol along with the Hydrea? It is usually needed with higher white blood counts.

[Erin]

My brother did have the bone marrow test.  He has been hospitalized only two days and that was two weeks ago.  They put him on hydrea and alupurinol.  My question is can they identify the mutant gene that is only found in Phil. Chrom. negative cml?  I didn't realize they were looking for that, too. If they identify that mutant gene, is that for sure that he has the negative kind?  They keep waiting for these tests but it seems like we are losing time.  I have no power over what he does but am trying to glean as much info as possible.  We are pretty close to Louisville so that was very helpful.  I had never heard of that center.  Thanks for the doctor name, too.  Because his doctor has only dealt th one case of this in ten years, I just don't feel comfortable with him staying in Evansville, Indiana.  Thanks again.

[Trey]

The issue with trying to diagnose Ph- CML is there is no mutant gene or chromosome translocation as with Ph+ CML.  Ph- CML is a controversial subject, with many saying there is no such disease, but rather the testing does not properly categorize it, so they invented a name.  By that I mean the tests are specific for certain mutant genes or chromosomes, which Ph- CML does not have, or else existing tests do not properly categorize it.  So it is a myeloproliferative disease (MPD) of undefined origin.  It has an origin, but it is not understood in some cases. 

Your brother needs to have more specific tests looking for the origin of the disease.  Calling it Ph- CML will not be useful in the long run because the origin would not be defined, so a treatment cannot be offered except for bone marrow transplant. 

A test which needs to be done next is a JAK2 mutation test.  This looks for a mutation in the JAK2 gene, which occurs in some of these cases.  But it is a specific test which must be ordered.  You are probably beginning to see that blood testing can be a hit or miss proposition.  Trial and error often are required to reduce the unknowns until a proper diagnosis can be made.  Because of this the Onc should be ordering every test he can think of in hopes of finding the root cause.

One thing is certain, he MUST have a specialist Onc.  The current one seems to be doing his best, but is unqualified for the job.  Your brother's condition is rare, so only the best trained Oncs should be  treating him.  Finding a specialist should be the top priority.  This is very important.

[cousineg]

New link: Atypical CML Distinct From Related Myelodysplastic/Myeloproliferative Disorders -   - May 07, 2014

Ce message a été modifié par : Survenant

[cousineg]

See also Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic/myeloproliferative neoplasms http://bloodjournal....23/17/2645.full

[Erin]

Thank you Trey and cousineg so very much.  My sister-in-law is 100% in agreement with you, Trey.  She is already making plans to contact Houston and a center in New York.  She says that once the tests come in from Mayos they are leaving for a center.  It isn't that she dislikes his doctor--she wants to gosomewhere where they have at least seen more cases of this than one.  cousineg, I am so thankful you are leading me to these articles.  I seem to keep coming back to the same ones over and over.  You are such fighters on this forum and so generous --we appreciate it so much.  I am replying to your emails andhope you have received my answers.

[Trey]

If he goes to Houston MD Anderson I would recommend Dr Jorge Cortes:

http://faculty.mdand...ault.asp?SNID=0

Sloan Kettering in New York has some good Onc specialists:

http://www.mskcc.org...ute-and-chronic

But if it were me I personally would prefer Dr Talpaz at Univ of Michigan:

http://www.mcancer.o...bout/leadership

[Trey]

Erin,

You posted another question in a location we cannot normally see (NOTE: L&LS Monitor please move the post to Living with CML)

http://community.lls.org/thread/20377

Also, your LLS email inbox is full.  I tried to respond to your email but you can only have 5 total emails, which includes sent mail.  You would need to delete some before I can reply.