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
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:
Thanks for the info
Yes, it was associated with the MDS/MPD but they found the missing Philly chromosome, etc. also. It has been classified as Atypical CML. In the beginnings they felt that it would turn into AML, but we began Revlimid and it the 5q- has since went from 85% down to 7.9% so thankfully it is working
Thanks for the info!!
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.
Yes, you are correct. There is NO Philadelphia chromosome. It was also found that the 5q- deletion (hence the MDS diagnosis). In the beginning (before the BMB) they thought that it was CML or AML - after the bone marrow, they saw the lack of philly chromosome and the deletion. The way that they came to the conclusion of the aCML and MDS diagnosis was from an expert at Moffit Cancer Center (Dr. List) who is an expert on the chromosome deletion as well as medical records being looked at by Princeton, Mayo, and a hospital in Colorado (my dad wanted to make sure. haha) The regime that they are treating me is by ways of MDS but they also noted during my BMB Leukemia but was not the "typical" CML findings. Hope that helps!
Found this too
It may help! aCML is usually found in elderly (70-80) and there isnt really much they do other than "supportive care until death" in which my oncologist and Dr. List said that was not a possibility considering I was only 26. They were attempting the Revlimid to kill the 5q- and praying that a stem cell transplant is not necessary!
| aCML is a chronic myeloproliferative disorder with a clinical and hematological picture similar to chronic myelogenous leukemia (CML) but lacking Philadelphia chromosome and BCR - ABL or PDGFRBeta rearangements. Atypical CML is characterized by the combination of: 10-20% of immature granulocytes; marked granulocytic dysplasia and both less than 2% of basophils and less than 10% of monocytes. |
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