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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 3 messages
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Thu, 29 Feb 1996 09:24:12 +0000

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 3 submessage(s):


2)      Cystic Fibrosis

3)      Colon Adenomas vs. DALM (Dysplasia Associated Lesion or Mass);
        req. for a diagnostic test

  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics network
  Diagnostics/Clinical Research Section


We have a family that appears to have autosomal dominant familial
omphalocele with variable expression.  Family members are interested in
donating DNA for research into OMPHALOCELES.  If anyone is doing research
in this area, please feel free to contact us.
N Leonard
Medical Geneticist
University of Alberta
Edmonton, AB, Canada

We are exploring the nature of phenotypic heterogeneity associated with some
of the mutations that cause cystic fibrosis.  One mutation, 3849+10kb C>T, was
first described by our group at the University of North Carolina at Chapel Hill
(NEJM 331:974-80, 1994).  Although this mutation is typically associated with
mild lung disease, pancreatic sufficiency and normal sweat chloride values,
disease expression can, in fact, be variable, including pancreatic insufficiency
and elevated sweats.  We are interesting in other loci within the CF gene that
might modulate disease expression seen with this mutation.  Toward this end,
we are seeking anonymous DNA samples from CF patients with this mutation,
preferably from patients representing different ethnic groups and a range of
disease severities.

Additionally, we are studying the ~2% of CF men who have fathered children, and
are seeking anonymous DNA samples to genotype.

Potential collaborators should contact:

Kenneth J. Friedman
Genetics Curriculum
University of North Carolina
1071 East Wing - UNC Hospitals
Chapel Hill, NC 27514   USA
(919) 966-0713 (voice)
(919) 966-0717 (FAX)
bluemold@med.unc.edu (E-mail)


One of my surgical pathology colleagues has come to me with a very
practical question, for which I am seeking the group's input.  The end
result would be a molecular test that can indicate whether the correct
treatment is colectomy or simple endoscopically-monitored removal of a
colonic mass by cauterization.  Obviously, the medical, financial, and
quality of life implications of such a test are large.  An ongoing problem
for surgical pathologists, and one that generates much pressure on them
from the gastroenterologists who are usually attending on these cases, is
to differentiate between colonic adenomas (usual type) and DALM lesions
(DALM is Dysplasia Associated Lesion or Mass).  DALM lesions are polyploid
dysplastic lesions arising in a patient with inflammatory bowel disease.
Adenomas progress to colon cancer over the course of many years.  When
found during endoscopy, the simple treatment is to remove them by
cauterization.  Unfortunately this ruins the histology and makes
pathologic categorization as DALM or adenoma by morphologic examination
difficult.  On the other hand, DALM is a very serious condition that has a
high rate of coexistent adenocarcinoma and can quickly progress to
invasive neoplasia; it is best treated by colectomy.  If a molecular test
was available that could be done on colonic biopsies and could
differentiate between adenomas and DALM, it would be a great boon to
medicine, in that the right treatment could be administered.  The right
molecular test would be highly specific for one or the other (adenoma vs.
DALM).  Obtaining specimens is not a problem; we have many PEFFT specimens
available on which to do the testing.  The question is: does anyone know
of a molecular difference, at the gene, transcript, or gene product level,
between these two conditions that we could exploit?  Has anyone done any
work in this area or can you steer us to the correct papers?  We thought
we'd tap the group's collective knowledge before hitting the library.
Please e-mail me your thoughts (including any offers of collaboration) and
thank you.

Dan Farkas, PhD,
Co-Director, Molecular Probe Laboratory, William Beaumont Hospital, Royal
Oak, Michigan, USA; (810) 551-5077

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