Are there any other cml patients in Ayrshire and Arran area that are unable to receive pcr testing because the health board will not sanction this are present.
We are very grateful to Dr Eynaud (Ayr hospital) and Professor Tessa Holyoake at the Beatson in Glasgow that Brian is now going to Glasgow in future for his pcr tests. First one was carried out last week. We have been asked to contact our local MP to get support for Ayrshire and Arran to get this funding in the near future. Obviously the more people involved in asking for this help would be very beneficial in pressing the case for this.
If you are interested please e-mail me at christinemurphy56@btinternet.com
Thank yo
Chris
You are here
No PCR tests in Ayrshire and Arran - help needed
Hi Chris,
this article is quite technical but I have cut and pasted the relevant paragraph dealing with PCR/FISH etc. Basically it says that FISH is a very good diagnostic tool but for detecting BCR/Abl and other mutational analysis it is essential that PCR testing is provided.
This article may help you in the future if you are to take on the Arran and Ayrshire health board.
For the full article follow this link
Best wishes,
Sandy
snip from medscape article:
Molecular Genetics: Recent Advances
The recent advances in molecular genetics have an important impact on the field of hematology and oncology.[18,19] As mentioned before, there are many karyotypes and molecular characteristics that can help the diagnosis, treatment, and prediction of prognosis. This progress is mainly due to the current technologic improvement. The conventional karyotype still remains the basic screening technique. It can detect multiple abnormalities. The new techniques become applicable only when the basic abnormality is known. The Southern blotting technique was a significant breakthrough in the identification of clonality in lymphoid tumors by demonstrating the immunoglobulin gene and T-cell receptor gene rearrangements.[15] However, it is time-consuming, and in some cases the endpoint is not clear-cut.
The polymerase chain reaction (PCR) greatly enhances the sensitivity of gene rearrangement analysis and markedly shortens the study time. The function of PCR is to amplify DNA extracted from the tumor tissue and subject it to electrophoresis for DNA fractionation. The recent use of capillary electrophoresis to replace gel electrophoresis further improves the sensitivity and accuracy of this technique.[15] Besides receptor gene rearrangement, PCR also can identify oncogenes, chromosomal translocation, and gene mutations. The detection of JAK2 mutation by this technique is very important for the diagnosis of polycythemia vera, chronic idiopathic myelofibrosis, and essential thrombocythemia.[20] FLT3 thrombocythemia mutation can be demonstrated in about 30% of AML cases by PCR and help the therapeutic strategy.[21] The use of reverse-transcriptase to convert RNA to DNA for PCR analysis is designated RT-PCR, which further enhances the sensitivity and makes it an ideal tool for the detection of minimal residual disease.
However, it is the FISH technique that has revolutionized the field of cytogenetics.[19] Because of its sensitivity, many cryptic cytogenetic abnormalities that are not demonstrated by karyotyping have been demonstrated by FISH in various disease entities. The principle of FISH is the use of fluorochrome-labeled DNA probes to identify the abnormal genes or oncogenes in the tumor cells. With the increasing numbers of accurate probes, FISH has become an indispensable tool for an early and accurate diagnosis of many tumors. As mentioned before, the detection of BCR/ABL and PML/RARalpha provides a definitive diagnosis of CML and APL, respectively, and the patient can be treated promptly. However, for the follow-up of CML, the more sensitive RT-PCR technique should be used.[2]
The latest development in the field of molecular genetics is the technique of gene expression profiling.[18] With the microarray technique, hundreds of genes can be screened. After the expression data are collected, they are presented in a matrix in which each row represents a particular gene and each column represents a specific tissue sample. Further computer manipulation (clustering program) produces a specific pattern for each neoplasm studied, which is designated the signature of the particular tumor. The great potential of this technique has already been demonstrated for the diagnosis, classification, prediction of prognosis, and guidance of treatment of hematologic neoplasms. The outstanding examples include CLL, BL, diffuse large B-cell lymphoma, and precursor B-cell lymphoma/leukemia, just to name a few.[4,5,18,22] Gene expression profiling can also help to discover and identify important genes in various neoplasms. New gene products can be used to generate new antibodies for immunophenotyping. The interaction between immunology and molecular genetics certainly will push these techniques into extremely high versatility in the near future.
[Editor's Note: Dr. Mary Lowery Nordberg co-directed the workshop entitled "Current Topics in Flow Cytometry and Molecular Genetics."]
Hi Sandy
Once again you come to my aid. Thank you very much for all the info. I haven't had any response from other cml patients in this part of the world, perhaps there are very few.
We will however follow this up.
Thanks again
Chris
Chris
I think you may have difficulty getting support just because of patient numbers - there may simply not be many people with CML in your healthboard. My consultant is in Edinburgh and even though this is one of the larger centres my consultant still does not deal with a lot of people with CML. Fully support your argument - Ayrshire Health board seem to be out on a limb with this and I am so glad you have sorted it out via Tessa Holyoake at Glasgow. The small numbers of patients could be turned to your advantage though - the costs of PCR testing for a small number of individuals surely can not be material to the Health board.
For your information we have recently moved from Edinburgh to Fife - I was keen to keep seeing my consultant in Edinburgh - she is happy with this - there appear to have been no cost or treatment implications from moving from Edinburgh to Fife - consultant couldn't see any problems as it was all still 'Scotland' - I have regular PCR testing every time i go to see my consultant in Edinburgh - now every three months or so but on a monthly basis for a number of years - never had any issue of costing raised. Unaware of any problems with healthboards elsewhere in Scotland. Hope you get this sorted out and best of luck.