HUM-MOLGEN archive: DIAG: intl. list QA progr. in genetic tests/ reply 9p21 del in

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 3 submessage(s): 1) Molecular genetic QA programs 2) Reply to: del 9p21 in pediatric ALL 3) CK2 in H&N cancer; req. for a paper in Mol.Med. Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** Dear Colleague, I have tried to identify QA programs in Molecular Genetics around the world, and have listed the replies to date. I understand that there are QA programs in Fragile X and myotonic dystrophy in Germany, but have no details. The cost and style of the programs vary widely. The UK and Australian programs tend to send out a number of DNA samples and place emphasis on the quality of the comment/interpretation on the report from the laboratory. For example, in the Australian CF module we are sending 4 DNA samples to 10 laboratories in Australia and New Zealand. Each sample has a suitable request form from a general practitioner, paediatrician, or clinical geneticist. The lab is asked to report the result of the sample in their usual fashion. The report is then scored according to the time taken to issue the report, accuracy of clerical details, accuracy of the genotype, and the quality of the report's comment. Walter Noll of Dartmouth (Chairman of the ACMG/CAP program) kindly sent me copies of their recent QA module. It appears that there is less DNA analysis and more emphasis on interpretation of data eg genotypes in the context of prenatal diagnosis. I have not detailed costs on this list and suggest that you contact the nominated people if you have questions about specific programs. LIST OF MOLECULAR GENETIC QA PROGRAMS UNITED KINGDOM Duchenne/Becker muscular dystrophy cystic fibrosis fragile X syndrome myotonic dystrophy Huntington disease familial adenomatous polyposis spinal muscular atrophy Angelman/Prader-Willi Contacts: Dr R Mountford Regional Molecular Genetics Laboratory Institute of Child Health Alder Hey Children's Hospital Liverpool L12 2AP ENGLAND tel int-44-151-228 4811 ext 2467 fax int-44-151-228 2024 Dr Scott Higgins Department of Medical Genetics Yorkhill Hospital Glasgow G3 8SJ SCOTLAND tel int-44-141-201 0377 fax int-44-141-357 4277 ----------------------------------------------------- UNITED STATES OF AMERICA bcr/abl beta-thalassaemia cystic fibrosis Duchenne/Becker muscular dystrophy Contact: College of American Pathologists 325 Waukegan Rd Northfield IL 60093-2750 USA tel int-1-708 446-8800 fax int-1-708 323-3563 ----------------------------------------------------- AUSTRALIA: cystic fibrosis Contact: Graeme Suthers gsuthers@medicine.adelaide.edu.au ----------------------------------------------------- GERMANY Huntington disease Contact: Dr Olaf Reiss riessoby@rubc.rz.ruhr-uni-bochum.de Yours sincerely, Graeme Suthers ---------------------------------------------------------------------- Dr Graeme Suthers tel (int)-61-8-204 7375 Department of Medical Genetics fax (int)-61-8-204 6088 Women's & Children's Hospital North Adelaide SA 5006 AUSTRALIA ---------------------------------------------------------------------- <<< email: gsuthers@medicine.adelaide.edu.au >>> ---------------------------------------------------------------------- *************************************************************************** *************************************************************************** The finding of a 9p21 deletion in childhood ALL blasts at diagnosis does not necessarily confer a "poor prognosis". However, children with this clonal abnormality often present with high white counts and bulky disease ("lymphomatous" presentations with, eg, large lymph node, mediastinal mass, etc), features in many studies that are associated with a poor prognosis. The type of treatment administered can affect the impact of some prognostic variables. Independent of the 9p21 abnormality, relapse so early ("on therapy") suggests a poor long-term prognosis, but depending on how she was treated previously, there are several approaches that one could consider. How was she treated the first time and what agents did you use for the second induction? What are you using for "consolidation" of this remission? Robert Chilcote, MD, Pediatric Oncologist. rrc@IX.NETCOM.COM *************************************************************************** *************************************************************************** Hi I'm interested in the following article in TOC Mol Medicine Sep: Association of Elevated Protein Kinase CK2 Activity and Aggressive Behavior 659 of Squamous Cell Carcinoma of the Head and Neck M. Gapany, R.A. Faust, S. Tawfic, A. Davis, G.L. Adams, and K. Ahmed Submitted by P. Leder but we do not get the journal Molecular Medicine here in our library. Is there some way I could obtain the article or an abstract? I am interested in casein kinase II and wonder if that is the CK2 in this article. Thanks very much. Agnes Tay, MD PhD Singapore mcbtayhn@LEONIS.NUS.SG