I received my latest FISH back. I have had 4 over the years. My first FISH came back 13q deleted, 53%. Second one was 13q deleted 87%. Third FISH was 13q normal after treatment. The latest FISH is for getting ready for treatment again and 13q deleted 89%. On my last FISH test, I have ATM deletion 56%. I know that the ATM deletion indicates a poor prognosis and speeded up relapse, which has been borne out as my ALC is doubling every 3 months. Can anyone give me the role ATM plays in the human body function? Thanks.
FISH ATM what does it mean?: I received my... - CLL Support
FISH ATM what does it mean?
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Big_Dee
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Big_Dee, the diagram below is one of the best I've seen simplifying the cellular functions of the ATM protein. The protein is involved in the repair of double stranded DNA breaks (DSBs) and has a role in controlling cell replication, but it is complicated and not fully understood.
Many substrates, many functions:
ATM is a protein kinase that seems to have many substrates. Because numerous cellular processes are affected by ATM, when this protein is missing the result is a varied disease phenotype. Several targets participate in DNA-damage-response pathways and account for some of the checkpoint abnormalities seen in ATM-deficient cells.
nature.com/articles/3504305...
Diagram of the cellular function of the ATM protein.
Hello gardening-girl
Thank you, that was exactly what I was looking for.
Big_Dee, you provide very little data, which does not allow to interpret your "modestly" presented results. I see that you live in the USA, where you probably had FISH analysis done at the time of diagnosis.
A brief but important description of the role of ATM in CLL"
ATM/del(11q)
Deletions in the 11q22-23 locus (commonly referred to as 11q-) are recognized in a range between 11% and 18% in the non-biased CLL cohort, but it increases with the Binet stage. This aberration is generally associated with the IGHV unmutated phenotype and is expressed in heterozygosity. The deletion of this portion of chromosome 11 is associated with the loss of ataxia telangiectasia mutated (ATM) gene. ATM is a serine/threonine protein kinase acting as a tumor suppressor gene. It dictates cellular responses during DNA damage [27]. The lack of ATM is associated with the development of genomic instability and therefore a more aggressive phenotype. Del(11q), often associated with extensive lymphadenopathy, disease progression, and shorter median survival (≈40% of cases alive at 10 years), is an adverse factor that identifies a group of patients with intermediate-risk disease.
This from the Italian brothers from here: mdpi.com/2072-6694/12/3/629....
Hello Yalokin
The ATM was the only item i needed additional infomation on. Thanks
When the Next Gen Sequencing report says you have ATM gene damage, is that the same as CLL 11q?
Abnormalities of the ATM gene are common in patients with chronic lymphocytic leukemia (CLL) and represent an important predictive and prognostic factor. Defects in ATM are usually assessed by monitoring deletion of 11q (11q-) using I-FISH. However, there are two aspects that may prevent the correct separation of affected patients: (i) the deletion of 11q does not imply inactivation of ATM if the other allele remains intact (ii) there are patients who carry an ATM mutation without accompanying 11q-. Mutational analysis of ATM is complicated by the extreme size of the gene and the lack of preferential (hotspot) mutations
Summary and Conclusions. Our data confirms that ATM mutations do not automatically overlap with 11q- in CLL patients and are rare in TP53-defected subgroup.
from here:
linkos.cz/lekar-a-disciplin... harboring-deletion-11q-or-tp53-defec/
Thank you Yalokin. That is exactly what I needed to know.
Wow, I tried to open the Czech link because I would be able to read it in original if it was in Czech, but it says the page is missing. What gives? Thank you for the summary.
Stránka nebyla nalezena
Yes🙂. Page could not be found.
Ona je preč!😄
Big brother is watching your posts 🙂
At present, if you edit a reply, any links in the reply are lost. I think that's what's happened here. HU is aware of the issue and hopefully can fix it. For the time being, though, you will need to re-enter the correct url link before saving any edited post.
Yalokin, what's happened here now, after your last correction, is that the HU code parsing your reference link (URL) couldn't do it correctly. You can see the trailing "harboring-deletion-11q-or-tp53-defec" didn't make it into the blue text link. This happens typically when there are several consecutive punctuation characters in the URL.
Unfortunately the work around in these situations is to use a URL shortening service like bit.ly. I say unfortunately, because URL shortening services are a security concern - readers have no idea where the link is taking them, so we prefer not to see them used in this community unless there's no other option - as in this case. 
Neil
I have no idea why exactly things went wrong here. The link must work for at least a few hours. I always personally check that every link I post "works". This is the first time this has happened. Maybe they downloaded it from the Czech site or they have technical problem. It will be very difficult for me to find this post again, but I will try.
Greetings!
Some links, like the HU post links, have built in redundancy. They have a unique number early on, followed by further text including the title of the article. These links can still work when part or all of the title is lost. I can't work out your correct link, sorry.
MUTATION STATUS OF ATM GENE IN CLL PATIENTS HARBORING DELETION 11Q OR TP53 DEFECT
Konference: 2012 17th Congress of the European Hematology Association - účast ČR
Kategorie: Maligní lymfomy a leukémie
Téma: Chronic lymphocytic leukemia - Biology 1
Číslo abstraktu: 0128
Autoři: Mgr. Veronika Navrkalová; RNDr. Ludmila Šebejová; Mgr. Jana Zemanová; PharmDr. Jana Lochmanová; MUDr. Barbara Kubešová; prof. MUDr. Michael Doubek, Ph.D.; MUDr. Yvona Brychtová, Ph.D.; prof. MUDr. Jiří Mayer, CSc.; prof. RNDr. Šárka Pospíšilová, Ph.D.; Doc. MUDr. Martin Trbušek, PhD
Sborník
Background. Abnormalities of ATM gene are frequent in chronic lymphocytic leukemia (CLL) patients and represent important predictive and prognostic factor. ATM defects are commonly assessed through monitoring of 11q deletion (11q-) using I-FISH. However, there are two aspects which may hamper setting aside affected patients properly: (i) 11q deletion does not mean ATM inactivation if the other allele remains intact (ii) there are patients who harbor ATM mutation without accompanying 11q-. Mutation analysis of ATM is complicated due to the extreme gene size and lack of preferential (hot-spot) mutations. Nevertheless, knowledge of ATM mutation status should significantly improve patient stratification. Aims. The aims were to establish an efficient and convenient system to detect ATM mutations and assess their frequency in high-risk CLL patients. Methods. We used the following complementary methodologies: (a) resequencing microarray (Affymetrix platform), which was designed to detect 1-nt substitutions (i.e. missense mutations, nonsense mutations, and substitutions in splicing sites) (b) western blotting (WB) to disclose patients with null ATM protein (c) functional testing based on induction of CDKN1A (p21) and BBC3 (PUMA) genes after treatment of CLL cells with fludarabine and doxorubicin in parallel; in case of ATM mutation, the former drug leads to the gene expression induction, while the latter does not. Results. The resequencing on microarray was performed in 107 CLL patients. We detected 16 ATM mutations (13 missense, 2 nonsense, and 1 splicing) in 15 patients (14%). In parallel analysis, 11 out of 107 patients (10%) showed null ATM protein on WB; among these patients, there were six with mutation detected on microarray, two patients with three mutations together identified by direct Sanger sequencing only (two short deletions, one missense), and in remaining three patients a suspect mutation is still under investigation by direct sequencing. In total, there were 20 patients (19%) with demonstrable ATM defect (presence of mutation and/or null protein level). Our third test consisting of the ATM functional assessment (see Methods) indicated mutation in 12 patients; in 9 cases the mutation has already been identified. Not all identified mutations in our study, however, resulted into “ATM dysfunctional status”. Proportions of patients with ATM defect in subgroups divided according to the presence of high-risk genetic features were following: 6 % (3/49) in patients having TP53 mutation and/or deletion 17p; 32 % (13/41) in patients with 11q-; 24% (4/17) in patients without any adverse genetic defect. This observation confirms the previous data showing an exclusivity of ATM and TP53 defects (although not strict) and suggests that the frequency of ATM mutations may not be dramatically different between the subgroups with or without 11q-. Summary and Conclusions. Our data confirms that ATM mutations do not automatically overlap with 11q- in CLL patients and are rare in TP53-defected subgroup. Several complementary methodologies should preferably be used to effectively assess ATM status. The work was supported by grants NS 9858-3, MUNI/A/0784/2011, and CZ.1.07/2.3.00/20.004
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