Artigos Nacionais - Resumo

A missense TCF1 mutation in a patient with mody-3
and liver adenomatosis.
Autores: Lerario AM, Brito LP, Mariani BM, Fragoso MC, Machado MA, Teixeira R
Clinics 2011; 65(10):1059-60.



RESUMO - Since the 1970s, some reports observed the co-segregation
of familial autosomic-dominant diabetes mellitus and LA,
suggesting that a common genetic factor may be associated
with both conditions.4,5 Biallelic somatic TCF1 inactivation
has been observed in about 50% of hepatocellular adenomas,
suggesting that this gene act as a tumor suppressor in
liver.6 Recently, germline TCF1 mutations have been
described in five familial cases of LA. In four of these
families, a co-segregation of LA and diabetes could be
clearly established. Interestingly, in all of these cases, the
identified germline TCF1 mutations were nonsense or frameshift.
6-8 In this report, we describe a MODY-3 patient with
LA associated to a TCF1 missense germline mutation.
DESCRITORES – Hepatectomia. Hepatopatias, cirurgia. Adenoma hepatocelular