RESUMEN
MAML2 rearrangements have been previously described for hidradenomas and muco-epidermoid carcinomas (MEC). However, one report showed EWSR1 rearrangement in both tumours. In this study, EWSR1 and MAML2 translocation were investigated in hidradenomas and MECs. Specimens from thirteen MECs of the salivary glands and twenty hidradenomas of the skin were evaluated. Fluorescence in situ hybridisation (FISH) studies with EWSR1 and MAML2 break-apart probes were used. Forty percent of hidradenomas and 84.6% of MECs showed a positive MAML2 break signal. EWSR1 break signal was absent in hidradenomas. Only two MECs showed positive EWSR1 signal and were, thus, reclassified as clear cell carcinoma (CCC). A statistically significant relationship was also observed between clear cells containing hidradenomas and the FISH status. Despite the previous study, EWSR1 translocations could not be established in hidradenomas and MECs. The study further suggests that evaluation of EWSR1 might be obligatory for the correct diagnosis of MAML2-negative MECs to exclude the chance of CCCs. The present study also supports the notion that MAML2 can be used as a marker for hidradenomas and MECs.
Asunto(s)
Acrospiroma , Carcinoma Mucoepidermoide , Neoplasias de las Glándulas Salivales , Carcinoma Mucoepidermoide/genética , Proteínas de Unión al ADN , Humanos , Proteínas Nucleares , Proteína EWS de Unión a ARN/genética , Neoplasias de las Glándulas Salivales/genética , Glándulas Salivales , Neoplasias de las Glándulas SudoríparasRESUMEN
Objective: 5-Hydroxymethylfurfural (HMF) is formed when sugars are heated in the presence of amino acids. HMF is naturally present in many foods. To investigate the toxic effects of HMF on the reproductive system of peripubertal rats. Methods: In the study, 24 immature female Wistar rat were divided into three groups: control (CT) fed with no HMF; low dose fed with 750 mg/kg/day of HMF and high dose (HD) groups fed with 1500 mg/kg/day of HMF. All groups received these diets for three weeks from postnatal day (PND) 21. The vaginal opening (VO) was monitored daily and euthanasia occurred on PND 44. Gonadotropin, estradiol (E2), progesterone and anti-Müllerian hormone (AMH) concentrations were measured. Reproductive organ weights and ovarian follicle counts were compared. Results: The HD HMF group had earlier VO. Higher mean luteinising hormone (2.9±1.2 vs 1.3±0.3 mIU/mL) and mean E2 (34.7±8.8 vs 21.2±3.9 pg/mL) and lower mean AMH (2.7±0.5 vs 4.7±0.7 ng/mL) concentrations were found in the HD compared to the CT group. The HD group also had increased number of secondary atrophic follicles. Conclusion: These results indicate that peripubertal exposure to HMF at HD result in precocious puberty and decreased AMH levels in female Wistar rats.
Asunto(s)
Dieta/efectos adversos , Furaldehído/análogos & derivados , Pubertad Precoz/inducido químicamente , Maduración Sexual/efectos de los fármacos , Animales , Hormona Antimülleriana/metabolismo , Modelos Animales de Enfermedad , Estradiol/metabolismo , Femenino , Hormona Folículo Estimulante , Furaldehído/administración & dosificación , Furaldehído/efectos adversos , Hormona Luteinizante/metabolismo , Pubertad Precoz/metabolismo , Ratas , Ratas WistarAsunto(s)
Enfermedad de Darier/complicaciones , Cejas/anomalías , Síndrome LEOPARD/diagnóstico , Anomalías Múltiples/diagnóstico , Adulto , Enfermedad de Darier/diagnóstico , Asesoramiento Genético , Pruebas Genéticas , Humanos , Síndrome LEOPARD/complicaciones , Síndrome LEOPARD/genética , MasculinoRESUMEN
Porokeratosis includes a group of heterogenous disorders that represents distinct clinical subtypes of the same genetic pattern. Although entire pathogenesis of porokeratosis still remains unknown, certain factors including ultraviolet radiation and immunosuppression are suggested to be some of the factors inducing this disorder. Eruptive disseminated porokeratosis is a recently described form of porokeratosis, which frequently occurs in the presence of immunosuppresion or malignancy. The authors report here a unique case with sudden onset eruptive disseminated porokeratosis associated with diabetes mellitus.