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Fish results-a little help?

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#1 lindacarriere


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Posted 19 June 2012 - 06:13 PM

Just got my husbands initial FISH test results.  I already knew the results, but didn't have the full report.  Just need a little help deciphering them.  I tried to look up the breakpoint on Trey's blog, but couldn't find a reference to my husbands (e13/a2). 

The other question is they refer on the report to the translocation of the Chromosomes and then have some other numbers.  (q34.1;q11.2)  What does that refer to?  All the reports are in french, and although my french is pretty good, I don't think it would help me to understand what these mean.

On a side note, we went to see the Onc yesterday and after a month on Gleevek, hubby has already reached CHR.  Great news so early in the game (DX April 24, 2012), but we are still cautiously optimistic.  We hope for the best, but expect the worst!

Thanks for any and all help!

#2 Trey


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Posted 19 June 2012 - 07:31 PM

The e13a2 breakpoint (formerly b2a2) is one of the two most common types.  The other is e14a2 (formerly b3a2).  95% of all CML cases are one or the other.  So very common for CML.

The (q34;q11) or (q34.1;q11.2) shows the breakpoint in another way, and is the latter part of the nomenclature for the Philadelphia Chromosome translocation, which is normally written as t(9;22)(q34;q11), but is the same as the longer form written as t(9;22)(q34.1;q11.2).  So there is no difference between the two, since one is just the short version of the other.  The "q" is for "long arm of a chromosome", as opposed to the short arm "p".  The piece of chromosome 9 breaks off at quadrant 34 (which is the ABL) and the piece of chromosome 22 that it connects to is at quadrant 11 (which is the BCR).  The joined pieces make the BCR-ABL gene on the new mutant chromosome 22, which is called the Philadelphia Chromosome.  The broken off piece of chromosome 22 connects to the broken end of chromosome 9, but the new mutant chromosome 9 is believed to be non-reactive. 



#3 lindacarriere


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Posted 19 June 2012 - 08:45 PM

Thanks Trey, it is very clear now.  The links were extremely helpful.  They actually answered questions I hadn't even thought of yet!  lol

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