RESUMEN
OBJECTIVE: Endometrial cancer is the second most frequent neoplasm in women with Lynch syndrome (LS). We sought to assess whether analyzing women with endometrial cancer would identify families with LS not identified with current clinical criteria. METHODS: We included women diagnosed with endometrial cancer younger than 50 years and also older if they had a family cancer history associated with LS. In blood samples obtained, we analyzed mutations in mismatch repair (MMR) genes, as well as protein expression by immunohistochemistry and microsatellite instability (MSI) in tumour tissue. RESULTS: A total of 103 patients were enrolled. We detected 14 pathogenic mutations and 4 genetic variants of unknown clinical significance in MMR genes. We found MSI in 41.66% of the women with a pathogenic mutation. In this group, 76.92% showed loss of at least one MMR protein. Women with mutations were younger at diagnosis, but all of them had a family history compatible with LS. CONCLUSIONS: Analysis of the MMR genes, in particular MSH6, seems to be appropriate in women with endometrial cancer and a family history of tumours associated with LS.
Asunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Reparación de la Incompatibilidad de ADN/genética , Neoplasias Endometriales/genética , Inestabilidad de Microsatélites , Adulto , Factores de Edad , Proteínas de Unión al ADN/análisis , Proteínas de Unión al ADN/genética , Neoplasias Endometriales/química , Femenino , Humanos , Persona de Mediana Edad , Homólogo 1 de la Proteína MutL/análisis , Homólogo 1 de la Proteína MutL/genética , Proteína 2 Homóloga a MutS/análisis , Proteína 2 Homóloga a MutS/genética , Mutación , Estudios Prospectivos , Estudios RetrospectivosRESUMEN
El adenosarcoma mülleriano de cérvix es un tumor muy poco frecuente que aparece generalmente en mujeres jóvenes, como un pólipo cervical sangrante, con tendencia a la recurrencia local debido a su bajo potencial de malignidad. No está claro cuál es su tratamiento óptimo, pero en casos seleccionados se puede realizar tratamiento conservador para preservar la fertilidad de la mujer, destacando la importancia del seguimiento clínico prolongado. Presentamos el caso de un adenosarcoma mülleriano de cérvix en una mujer de 19 años tratada con una conización extensa (AU)
Müllerian adenosarcoma of the cervix is a rare tumor that usually presents in young women as a bleeding cervical polyp. There is a tendency for local recurrence due to their low malignant potential. The optimal therapy for these tumors is uncertain but conservative treatment can be provided in selected patients to preserve female fertility. Long-term follow-up is of paramount importance. We present the case of a 19-year-old girl who was diagnosed with a Müllerian adenosarcoma of the uterine cervix treated with a wide cervical conization (AU)