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  Carlo Gambacorti: DIAG: intl. list QA progr. in genetic tests/ reply 9p21 del in ALL/ CK2in H&N ca, req. for a paper.  
   

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: intl. list QA progr. in genetic tests/ reply 9p21 del in ALL/ CK2in H&N ca, req. for a paper.
From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>
Date: Fri, 18 Aug 1995 09:47:36 MET-DST

**************************************************************
           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


   
 
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