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a INSERM U434, 27 rue
Juliette Dodu, 75010 Paris, France, b CEPH, Paris, France, c CHU Saint-Antoine, Service de Chirurgie
Digestive, Paris, France
Correspondence to: Dr Olschwang, olschwang{at}cephb.fr
Revised version received 14 March 2001;
Accepted for publication 15
March 2001
INTRODUCTION
Germline mutations of the
STK11/LKB1 tumour suppressor gene (19p13.3)
are responsible for Peutz-Jeghers syndrome (PJS), a rare genetic
disorder, which is dominantly inherited. In addition to the typical
hamartomatous gastrointestinal polyps and perioral pigmented lesions,
PJS is also associated with the development of tumours in various
sites. No specific follow up has yet been evaluated for gene carriers.
Furthermore, genetic heterogeneity has been reported, which makes
genetic counselling difficult.
METHODSWe report here the analysis
of the STK11/LKB1 locus in a series of 34 PJS families, combining the search for mutations and rearrangements in
the coding sequence, allele specific expression tests, and linkage studies.
RESULTSGermline deleterious
mutation of the STK11/LKB1 gene were
identified in 70% of cases. The hypothesis of a second PJS locus was
reinforced and PJS families could be divided into two groups on the
basis of the presence or absence of an identified
STK11/LKB1 alteration. Analysis of clinical
data indicates that the cancer associated risk is markedly different in
the two groups. PJS patients with no identified
STK11/LKB1 mutation are at major risk for
proximal biliary adenocarcinoma, an infrequent tumour in the general population.
CONCLUSIONUp to 30% of PJS
patients are caused by mutation in an unidentified gene that confers
high susceptibility to cancer development.
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