F. Canzian et al., A gene predisposing to familial thyroid tumors with cell oxyphilia maps tochromosome 19p13.2, AM J HU GEN, 63(6), 1998, pp. 1743-1748
Citations number
25
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Familial nonmedullary thyroid cancer (FNMTC) is a clinical entity character
ized by a phenotype more aggressive than that of its sporadic counterpart.
Families with recurrence of nonmedullary thyroid cancer (NMTC) have been re
peatedly reported in the literature, and epidemiological data show a very h
igh relative risk for first-degree relatives of probands with thyroid cance
r. The transmission of susceptibility to FNMTC is compatible with autosomal
dominant inheritance with reduced penetrance, or with complex inheritance.
Cases of benign thyroid disease are often found in FNMTC kindreds. We repo
rt both the identification of a new entity of FNMTC and the mapping of the
responsible gene, named "TCO" ((t) under bar hyroid tumors with (c) under b
ar ell (o) under bar xypihilia), in a French pedigree with multiple cases o
f multinodular goiter and NMTC. TCO was mapped to chromosome 19p13.2 by lin
kage analysis with a whole-genome panel of microsatellite markers. Interest
ingly, both the benign and malignant thyroid tumors in this family exhibit
some extent of cell oxyphilia, which, until now, had not been described in
the FNMTC. These findings suggest that the relatives of patients affected w
ith sporadic NMTC with cell oxyphilia should be carefully investigated.