The Leukemia & Lymphoma Society - Fighting Blood Cancers
6 Replies Last post: Nov 4, 2009 11:01 PM by Trey  
  37 posts since
Oct 29, 2009
Currently Being Moderated

Oct 30, 2009 4:34 PM

5q- chromosomal deletion?

Anyone experiencing this?  When I was first diagnosed, the oncologist thought that it was AML or CML.  He then learned that I had an abscent Philadelphia chromosome AND found a 5q- deletion (spontanous mutation).  Just wondering.  My diagnosis is Atypical CML (Gleevec does not work - I am on Revlimid - if that stops working my only option is a transplant)  Just curious because my first oncologist had to refer me elsewhere because he had never dealt with this type of CML... The best "expert" in the field of the 5q- is in Tampa, FL (Dr. List) which my oncologist here consults with often. 


Jacquelyn

http://www.caringbridge.org/visit/jacquibuckley

Trey   600 posts since
Mar 27, 2009
Currently Being Moderated
1. Nov 4, 2009 6:41 PM in response to: Leukemia_Stupemia
Re: 5q- chromosomal deletion?

The 5q deletion would more likely be asociated with either myelodysplastic syndrome or AML leukemia than CML.

http://atlasgeneticsoncology.org/Anomalies/ClassifMDSID1239.html

There is another potential medication coming along:

http://clinicaltrials.gov/ct2/show/NCT00004997

Trey   600 posts since
Mar 27, 2009
Currently Being Moderated
3. Nov 4, 2009 7:41 PM in response to: Leukemia_Stupemia
Re: 5q- chromosomal deletion?

Just to make sure I understand, I believe you said that you do NOT have the Philadelphia Chromosome.  The Philadelphia Chromosome is NOT a normal chromosome, but rather the mutant CML chromosome.  So if you do not have it, that means you do not have regular CML.  But it does not mean you do not have MDS or AML, either.  Am I understanding you correctly?  The fact that Revlimid is working seems to indicate MDS rather than CML, but I am not trying to diagnose you, just providing inputs for you to discuss with your Onc.  "Atypical CML" is a very tricky diagnosis, and some even say that there is no such thing.

Trey   600 posts since
Mar 27, 2009
Currently Being Moderated
6. Nov 10, 2009 9:40 AM in response to: Leukemia_Stupemia
Re: 5q- chromosomal deletion?

There are certainly definitions provided for "aCML", but there is still controversy about its existence as a disease.  A key phrase in the definition you provided is "similar to chronic myelogenous leukemia (CML)".  Also, the "10-20% of immature granulocytes" means that blasts (immature WBCs) are 10-15% of the WBCs.  I would ask the Onc if you actually had 10-15% blasts at diagnosis, and if you did, I could understand why they would apply the "aCML" label because they could not classify you otherwise.  Also, was your red blood cell count low at diagnosis (possibly refractory anemia).  I know that your blog says you had moderately elevated WBC count.  Again, my inputs are only meant to help you ensure a proper diagnosis.  From my discussions with those who were told they had aCML, it was usually a cop-out by the Onc because they were stumped and could not provide an accurate diagnosis.  But the good news is that Revlimid is helping with the -5q issue.

 

"Myelodysplastic syndrome associated with an isolated del(5q) chromosome abnormality: There are too few red blood cells in the blood and the patient has anemia. Less than 5% of the cells in the bone marrow and blood are blasts. There is a specific change in the chromosome."

http://www.nci.nih.gov/cancertopics/pdq/treatment/myelodysplastic/patient/

 

http://tampabay.bizjournals.com/tampabay/stories/2005/12/26/daily27.html

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