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Extra signal for IGH/14q (?)

Can anyone tell me what this is. Just got the new FISH results and this was mentioned. Can't tell if it's good or bad or just weird.


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Hi Virginia

This is something you need to have fully interpreted by your haematologist, since this deletion or translocation is very complex and size of deletion or addition, single or double allele etc. matters...

Usually the deletion is at the very tip of the long arm of chromosome 14 at position 14q32.3, but how large the deletion is and how effected the IGH gene is can only be determined from a full pathology report...



Thanks - I have an appointment scheduled


I was diagnosed three years ago and had a FISH test done. I also have the extra signal of IGH / 14q. I also have 13q-. The 13q- clone is a much smaller clone 12//200 as opposed to the IGH/14+clone - 60/200.

While I understand that 13q- is considered a positive, the fact of having the 14+ changed my prognosis designation to "neutral" . I read that as "we have no idea ;)

Anyway, I also had the same question as you do VaCooper63. What does this mean?

I asked my doctor who dismissed it as nothing and was unwilling to answer anything further. He was one of the "you'll be fine forever" guys who didn't seem open to my concerns. I have a new hematologist now (not my doing) but I still haven't been able to find out much more.

There is quite a bit online about research into the extra 14+. Having a second abnormality seems to matter (do you have any other chromosome errors indicated on your FISH test?) Also, if it is translocation (switching pieces of unrelated chromosomes) it matters who the "partner" is. If it is chromosome 11 (mine is not) that is not good. The other two more often seen are chromosome 18 or 19. Can't remember now, but one is better than the other, but most of what I found what pretty old research.

Like you, I would love to have more clarity on this but would not know where to start. I am interested in Chris's comment about needing a full pathology report from hematologist, but I thought that was what a FISH test was? What more can be done? Also, Chris, wondering what you mean "very complex.....size matters"... (sorry, that is what he said-)

Is that for deletions or translocations? These are not the same thing and I understood that an extra signal would be the result of trisomy or translocation not a deletion.

I am with VaCooper 63....wondering.


Size matters for deletions...sorry I should have been clearer... positioning matters for additions... if it is a translocation it might have come from chromosome 11 or 2 both are sometimes seen...

FISH is a 'dumb' test... in effect... it depends on the probes used and can miss things it is not probed for...

Clinically they are unlikely to go much further... but you need an accurate diagnosis from your doctor...



Dear CLLcanada, maybe you can help/guide/answer me with the following question(s):

Does knowing the clonal IgVH gene gives one to look already into the crystal ball without having done the actual FISH test?

step 1) "Based on the sequence analysis the clonal IgVH gene belongs to VH3-48 family"

step 2) Genomic Location for IGHV3-48 Gene


Start:106,537,810 bp from pterEnd:106,538,344 bp from pter

Size:535 basesOrientation:Minus strand

Genomic View for IGHV3-48 Gene

Genes around IGHV3-48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:

14q32.33 by Ensembl 14q32.33 by Entrez Gene 14q32.33 by HGNC

IGHV3-48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)


step 3) According to fig 1: 'Variable Prognosis' (14q32.33)



step 4) According to the above article (step 3) put into category 'Variable Prognosis': Due to IGHV3-48 being a 'gene-defined stereotyped subset' ? Because it's association with biased lambda light chain restriction ??

Do I follow a logic here? (preparing for 2nd opinion appointment with hematologist)

in advance thank you so much

PS: 'gene-defined stereotyped subset' a.k.a. 'stereotyped B cell receptor (BCR)' : medscape.com/viewarticle/71...

PS: 'biased lambda light chain restriction': lrjournal.com/article/S0145...


IGHV@ stererotype doesn't have any prognostic bearing CLINICALLY, except for perhaps VH4-39 which carries a high number of Richter's transformations, and is associated with T12

IGHV3-48 is very rare , tends to be female and has a shorter than average LDT if my memory serves.

Wait for your FISH results which do have a prognostic value.

You may have a translocation... not sure it matters to much...

The late Dr. Hamblin wrote a bit about this...


Also see the work of Dr. Kostas Stamatopoulos from Greece.

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thank you!

what do you mean by LTD ??

yes, FISH test be the next step ... (depending who can and will give the blood test order. We'll figure out next week)

I understand that FISH test is used for an indicator to the 'correct treatment' (what medication / treatment can be used and which not, due to genetic deletions, aberrations etc) and one can have the test already done as a baseline when just diagnosed (since FISH test results do change over time..)

I gather hematologists/oncologists are specialized with 'CLL behavior' treatment and CLL specialists on top of that are also involved into 'analyzing the CLL behavior' to pinpoint / refine the best treatment for each unique CLL case/behavior.

Am I seeing this correctly?


thank you for recommending Dr. Hamblin's blog and the work of Dr. Kostas Stamatopoulos from Greece


Sorry.. LDT.. lymphocyte doubling time...

I could blame my rituxan and Methylprednisolone ..but that must wait until tomorrow evening... ๐Ÿ˜

We aren't at the point of individualized treatments yet... it is just starting in a few CLL research hospitals, but it is still a few years away...

There is a need for advanced genome sequencing... in the clinic first.

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thanks .. that's what I figured! thought could be the British Canadian abbreviation for 'lymphocyte doubling time' ??!!

I read somewhere that TTT (time to treat) be shorter/quicker with 14q32.33 ...

I have no clue what Rituxan is, neither any idea what Methylprednisolone stands for, but I assume that's the medication you take / treatment you are currently on. Wishing you all the best !


Rituxan is a monoclonal antibody, man made, half human, half Chinese Hamster, often called mouse juice... it kills B cells... and it common to many CLL combo treatments...

Methylprednisolone is a corticosteroid used to hammer B cell counts down... often refered to as HDMP .

My third treatment component is idelalisib a PI3K delta small molecule...

Now you have your homework assignment for the weekend...


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cheers! :-)


yes.. I am aware of that ('not at the point of individualized treatments yet' etc. etc.)

cancer always be around though.

Evolution etc.

Just ordered the book 'Genomics and Personalized Medicine: What Everyone Needs to Knowยฎ 1st Edition' by Michael Snyder



Its a decent read... but my advice is focus on CLL only...its a life long study in its own right, extremely complex and actually not very much is known about it... and what we knew 5-10 yeas ago rarely applies today...


thank you for the advice and I agree with you. But to understand CLL I need to see it from the 'big picture' perspective to stay strong, and 'down to earth'; not to succumb to fear and break down in tears.

'immune systems' is what we are ..

Life ..

Hope is to be found in one's own strength and capacity (immune system), with the help of current and future Medicine, and pure luck (environment)

To fix the immune system, to extend Life ..

the hematologist explained to us in December 2016, paraphrased : "there are many many many different CLL cases, all unique - but there are just a handful treatments available"

My understanding is that CLL is not a death sentence. ..It's the breaking down of an immune system. Slowly


To fix the immune system, to extend Life ..


(google: immunogenetics and cll / tools: past year)


I hope all goes well with your treatment tomorrow, Chris.

Wishing you well,



My oven needs cleaning... so you know what I will be doing at 3am with my toothbrush...


Paraskevidekatriaphobia...to boot..

Thanks Paula ๐Ÿ˜€


I had to look up Paraskevidekatriaphobia. Interesting. I'd forgotten today was Friday 13th till you mentioned it!

I'll never remember such a long word, but at least I'll know there is such a word. :-)


good luck with your treatment! you appear to have a good sense of humor and keep up the spirit !

thank you so much for your help, advice and feedback. Very much appreciated !


Thanks Chicago- That was more than I found anywhere. The FISH test says - The significance of the IGHV findings is unclear though may represent aneuploidy for 14/14q or a rearrangement of the igH locus. That all means nothing to me.

I have an appointment with my onc next week. I am considering switching to another medical center here as they have a CLL specialist and it is a research hospital. But the idea fills me with agita!

I am Zap 70+ CB38+ Trisomy 12. Sigh



Good luck Virginia with your appointment. I have learned in three years on W and W that few things I was anxious about were really worth the worry. This is not true for everyone I understand, but I am stage 0 for now. Hope this remains true for you as well.

My source of anxiety is more about clarity. I am a person who needs information and clarity. When it comes to the 14+ clone I haven't had much luck.

*aneuploidy just indicates an abnormal number of copies (more than two) and rearrangement means some switching places of pieces of chromosome. My FISH test remarked that a more specific prognosis would be possible if the translocation partner was known. This would indicate they suspect a translocation.

If you find out more about this please post again.

Warm regards


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I think what really is important here is the know if your gene is mutated or unmutated !


I have translocations which I think is different from mutations. We need a cll dictionary!


I have a CLL glossary on my website... top menu right cllcanada.ca

Also you can refer to the NIH dictionaries


And I think Brian has a dictionary of CLL on his website cllsociety.org

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Wonderful website. One of my bookmarks now! Thanks you for the work you do.


Hi Virginia,

A genetics dictionary is good :)

A translocation is when a piece of one chromosome becomes attached to a second, non-matching chromosome.

All chromosomes ...(except the X and Y) have a matching partner and can exchange pieces with no problem. However, when a piece of an #11 (for example) exchanges with a piece of a #14, that is not generally good. Some translocations are considered "reciprocal" in that they both get a piece of the other. Some are unequal in that one gets extra and one gets less or nothing. No trading of "nonmatching chromosomal" pieces is usually a very good idea :)

These types of chromosomal errors are still considered "mutations" but unlike an error in the copying of DNA, these are considered chromosomal mutations. For example, a reciprocal (mutual) translocation between chromosome 9 and 22 is frequently seen in Chronic Myelogenous leukemia. Chromosomal breakages and "fusions" seen in translocations frequently do a lot of damage to the DNA sequencing at the break points. Hence the problems.

As you mentioned, you are thinking you have a translocation since you have an extra piece of chromosome #14 somewhere in the FISH picture. The question is always "which chromosome traded places with the 14?" That seems to be the unknown unless they specifically "probe" to see what other chromosome has an extra (or missing) piece. The partner matters.

Since switching with chromosome 11 is bad, some FISH test include a probe to see if #11 is the partner. My FISH test showed mine was not a switch with #11. Do you know if they included a #11 probe in your FISH test?

Hope this was more helpful than confusing :)



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The only thing I see mentioning 11 is a probe CCND!/IGH-t(11;14) which shows as Not Detected. I have no idea what it means.

I moved my oncologist/hematologist appoint up a week!


Thats the translocation probe t(11:14) it looks at a switch between chromosome 11 and 14 as Chicagogirl mentioned...

So, the translocation did not come from chromosome 11... it came from somewhere else, perhaps chromosome 2, but you are unlikely to get that tested for in the clinic.

There are many unknowns in CLL unfortunately...


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I am constantly amazed by the complexity!


Hello Virginia,

The CCND1/IGH is the probe I also had done on my FISH. Mine was negative,as is yours and that is good. The "CCND1" is the problem area (gene) on chromosome #11 and you don't have a translocation disruption in that area.

Finding out who the translocation partner is doesn't seem to be a priority and I take that to mean it is not a big deal. Ask at your next appointment and I would like to hear what they have to say.

Take care



Thank you so much Chicago!


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