RESUMEN
Cytogenetic and p53 mutation analysis in two cases of severe dysplasia of the bronchial epithelium in lung cancer patients and p53 immunostaining in a third one are reported. The finding of both chromosomal deletions of 17p and p53 mutation indicates that these changes may take place early in the process of lung carcinogenesis.
Asunto(s)
Carcinoma in Situ/genética , Carcinoma de Células Escamosas/genética , Deleción Cromosómica , Cromosomas Humanos Par 17 , Genes p53/genética , Neoplasias Pulmonares/genética , Lesiones Precancerosas/genética , Secuencia de Bases , Humanos , Datos de Secuencia MolecularRESUMEN
A family of growth arrest specific (Gas) genes was operationally defined on the basis of the strategy utilized to isolate them e.g. differential expression in quiescent and growing cells. Our interest in the Gas-3 gene was prompted by our previously reported localization of the gene on the mouse chromosome 11.44 +/- 1.9 cM proximal to the Trp53 locus and by the finding, by others, that it codes for a myelin protein and that a point mutation in its fourth putative transmembrane region is associated with the trembler mutation. We have isolated the human homologous of the mouse Gas-3 gene and utilized the cloned sequences as a probe to localize the gene on human chromosomes both by analysis of human-rodent somatic cell hybrids and in situ hybridization of human metaphases. We have now localized the human Gas-3 gene on chromosome 17p12-13. Its possible role in both the development of neoplasia in neurofibromatosis patients and in the myelin degenerative disease as the Charcot-Marie-Tooth is discussed.
Asunto(s)
División Celular/genética , Cromosomas Humanos Par 17 , Proteínas de la Mielina/genética , Secuencia de Aminoácidos , Animales , Enfermedad de Charcot-Marie-Tooth/genética , Mapeo Cromosómico , Humanos , Hibridación in Situ , Ratones , Datos de Secuencia Molecular , Neurofibromatosis 1/genética , Ratas , Homología de Secuencia de Aminoácido , Especificidad de la EspecieRESUMEN
The first case of synovial sarcoma in a patient with Turner's syndrome (45,X) is reported. Cytogenetic analysis of the tumor cells showed that the only X chromosome was involved in the t(X;18)(p11;q11) characteristic of synovial sarcoma.
Asunto(s)
Cromosomas Humanos Par 18 , Sarcoma Sinovial/genética , Translocación Genética , Síndrome de Turner/genética , Cromosoma X , Adolescente , Femenino , Humanos , Cariotipificación , Articulación de la Rodilla/patología , Síndrome de Turner/complicacionesRESUMEN
A combined cytogenetic and molecular analysis was performed on 11 cases of papillary thyroid carcinoma. A simple karyotypic abnormality was detected in five tumors, whereas six had no apparent chromosome change. In four of five rearranged cases the presence of a specific chromosomal abnormality involving chromosome 10 (cases 1 and 2) and chromosome 1 (cases 3 and 4) was associated with the rearrangement of two protooncogenes: RET and NTRKI (formerly trk), respectively, with different donor genes. Moreover, the chromosomal localization of the involved genes and the type of chromosomal change observed suggested that RET and NTRKI activation occurred by intrachromosomal rearrangements. The six cases with normal karyotype did not show RET or NTRKI activation. These findings suggest that a combined cytogenetic and molecular approach would be useful in understanding the pathogenesis of thyroid neoplasia.