RESUMEN
OBJECTIVE: To detect novel mutations in the fibrillin 1 (FBN1) and transforming growth factor beta receptor type II (TGFBR2) genes by screening the genes from 14 patients with Marfan syndrome. METHODS: Denaturing high performance liquid chromatography (DHPLC) was introduced to screen for FBN1 and TGFBR2 mutations exon-by-exon. The DNA amplification fragments which DHPLC elution profiles showed different from the corresponding normal elution profile were sequenced to identify the positions and types of mutations. Restriction fragment length polymorphism (RFLP) was employed to further prove the mutations when needed. RESULTS: Two gene mutations of the FBN1 were found in the patients with Marfan syndrome. They were a novel substitutional mutation (Intron29 +4A > T) of FBN1 and a recurrent nonsense mutation (8080C >T) of FBN1. CONCLUSION: Intron29 +4A > T and 8080C > T of FBN1 are possibly the pathogenesis of the MFS patients.
Asunto(s)
Síndrome de Marfan/genética , Proteínas de Microfilamentos/genética , Mutación , Proteínas Serina-Treonina Quinasas/genética , Receptores de Factores de Crecimiento Transformadores beta/genética , Adolescente , Secuencia de Bases , Análisis Mutacional de ADN , Femenino , Fibrilina-1 , Fibrilinas , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Receptor Tipo II de Factor de Crecimiento Transformador betaRESUMEN
Lipomatous ganglioneuroma (LG) is a rare variant of ganglioneuroma that is histologically characterized by a mature adipocytic component admixed with a conventional ganglioneuroma. We report the clinicopathological and immunohistochemical features of an LG in a 44-year-old Chinese male; additionally, we review the literature regarding this type of tumor. Magnetic resonance imaging revealed a left paravertebral soft-tissue mass at the T11-L3 levels. Grossly, the encapsulated neoplasm had a white to yellowish cut surface and rubbery consistency. Microscopic evaluation revealed an encapsulated lesion that consisted of areas of ganglioneuroma admixed with areas of mature fat. By immunohistochemistry, the ganglion cells were positive for chromogranin and synaptophysin, whereas the Schwann cells were positive for vimentin, S-100 protein, and glial fibrillary acidic protein (GFAP). This is the second known report of a retroperitoneal LG. The patient was well and without evidence of disease at 2 years' follow-up.