Sunday, May 8, 2016

Philadelphia chromosome?

This is the Philadelphia steak sandwich, not to be confused
with the abr/bcl rearrangement in the Philadelphia chromosome.
The sandwich is, however, quite messy to eat.
Researchers have used the Philadelphia chromosome to help nail down the diagnosis for ET for many years, though I just heard about it last week. The short story is that those who appear to have all the symptoms of ET but are carrying the Philadelphia chromosome with a certain abnormality should be diagnosed with chronic myeloid leukemia instead. Here's more info.

The Philadelpha chromosome abnormality is called "the abr/bcl rearrangement." And, yes, like so many things related to essential thrombocytosis (including its acronym, ET), the ABR/BCL Rearrangement sounds like a science fiction story about teleportation gone horribly wrong.

It is recommended that even those who are JAK2 positive be tested for the Philadelphia chromosome; Making the distinction between CML and ET is critical because CML responds to different drugs than ET. Imatinib (Gleevec) is used to treat CML rather than hydroxyurea (Hydrea) or anagrelide (Agrylin). Moreover, CML is not a death sentence; with appropriate treatment 89 percent of patients have long-term survival rates.

The American Cancer Society has an interactive fact sheet about CML. You might notice that it accounts for only 10 percent of all leukemias, and that it seems to affect men slightly more than women, whereas more women than men have ET.

But let's not all stampede on down to the nearest hematologist asking for Philadelphia chromosome testing because it's likely your doc has already covered that base. It might be something you'd want to ask about on your next visit, however.

Valuable tip about asking the doctor questions: There is nothing a doctor hates more than hearing you say, "I read on the internet that ..." And, in my experience, pissing off your doctor is usually a bad idea. So when you are asking your doctor about stuff you read on here or elsewhere, playing dumb is sometimes a good ploy. Something like, "Um, I heard about this Philadelpha chromosome thing from this other ET patient I know? What's that?"

The right answer, of course, is, "You tested negative for the Philadelphia chromosome." An answer like, "Whaa? I never heard of THAT," would send me looking for a second opinion.



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ET is a serious disease that requires specialist care. Discuss anything you read here with your doctor. No comments promoting "alternative" or "natural" cures (yes, this includes Rick Simpson's Oil) will be published.