RESUMO
AIM: To describe the case of metachronous gastrointestinal stromal tumors in a proband with familial adenomatous polyposis (FAP), carrier of APC gene mutation in codon 1309. MATERIAL AND METHODS: The physical examination, genealogical analysis and molecular genetic analysis of peripheral blood in 15-years-old girl with FAP and her sister, were carried out. Macroscopic, standard histological and immunohistochemical study of surgical specimens - intraintestinal tumors of the small intestine in proband was performed. RESULTS: Extraintestinal manifestations, including congenital abnormalities of facial skeleton, typical for Gardner's syndrome, were observed in the sisters with FAP as the addition symptoms of the disease. Frameshift mutation in codon 1309 in the APC gene was detected in these patients. A rare neoplasia - metachronous gastrointestinal stromal tumor was found in proband 15 months after total colectomy for FAP. This is the third case described in the accessible medical literature. CONCLUSION: The possible role of APC gene mutation in the development of mesenchymal neoplasms is discussed. The study of stromal tumors is important for understanding of their pathogenesis that will enable to develop effective targeted therapy.
Assuntos
Polipose Adenomatosa do Colo/genética , Tumores do Estroma Gastrointestinal/diagnóstico , Genes APC , Mutação , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/terapia , Adolescente , Biomarcadores , Códon , Feminino , Síndrome de Gardner/diagnóstico , Síndrome de Gardner/genética , Tumores do Estroma Gastrointestinal/metabolismo , Tumores do Estroma Gastrointestinal/terapia , Testes Genéticos , Humanos , Imuno-Histoquímica , Linhagem , Adulto JovemRESUMO
Physical examinations, genealogic analysis and genetic consulting were done for 14 probands and their family members with most frequent syndromes of hereditary polyposis of large bowel during 4 generations. These syndromes include familial adenomatous polyposis, Gardner syndrome and Peutz-Jeghers syndrome. 46 relatives of probands with the same pathology were affected (from 1 to 9 of affected relatives within families). We have found the congenital abnormalities in 13 (28.2%) patients with syndromes of hereditary polyposis. 29 (63%) patients have malignant neoplasia. In families with high risk for hereditary polyposis we recommend regular medical and genetic consultation for early prophylaxis of illness and for genetic risk of possible complications in their members.
Assuntos
Polipose Adenomatosa do Colo/complicações , Polipose Adenomatosa do Colo/diagnóstico , Aconselhamento Genético , Polipose Adenomatosa do Colo/epidemiologia , Polipose Adenomatosa do Colo/genética , Adulto , Neoplasias do Colo/diagnóstico , Neoplasias do Colo/epidemiologia , Neoplasias do Colo/etiologia , Neoplasias do Colo/genética , Feminino , Humanos , Masculino , Linhagem , Prognóstico , RiscoRESUMO
Microbiocenoses of 47 patients with tumor processes of colon and 18 persons of control group have been researched. The increase, in comparison with control of inoculation frequency of hemolytic Escherichia and Escherichia with lowered biochemical activity, partial replacement of the resident microflora on commensal microorganisms is registered. Isolation of opportunistic Enterobacteria (genus Citrobacter and Klebsiella) was observed more often. The increase of frequency of Bacteroides and Clostridium isolation is marked for patients of this group. Differences in specific composition of Bacteroides in patients with tumors in comparison with the control group are marked.
