RESUMEN
Secretory carcinoma of salivary gland origin is a recently described tumor that harbors a characteristic ETV6-NTRK3 translocation that is identical to secretory carcinoma of the breast. The majority of tumors were located in the parotid gland and other major salivary glands, while the minority occurred in a minor salivary gland. We present a case of a 71-year-old female who was diagnosed with low-grade salivary gland cancer presenting in the soft palate accompanying lymph node metastasis. Peroral wide excision, selective neck dissection, reconstruction with radial forearm free flap was performed. The final pathology report indicated secretory carcinoma of the soft palate. The patient was followed-up without evidence of recurrence for one year. At present, it is difficult to accurately assess prognosis and treatment for the secretory carcinoma of the minor salivary gland origin. Continuous follow-up with various cases is needed further.
RESUMEN
Secretory carcinoma of salivary gland origin is a recently described tumor that harbors a characteristic ETV6-NTRK3 translocation that is identical to secretory carcinoma of the breast. The majority of tumors were located in the parotid gland and other major salivary glands, while the minority occurred in a minor salivary gland. We present a case of a 71-year-old female who was diagnosed with low-grade salivary gland cancer presenting in the soft palate accompanying lymph node metastasis. Peroral wide excision, selective neck dissection, reconstruction with radial forearm free flap was performed. The final pathology report indicated secretory carcinoma of the soft palate. The patient was followed-up without evidence of recurrence for one year. At present, it is difficult to accurately assess prognosis and treatment for the secretory carcinoma of the minor salivary gland origin. Continuous follow-up with various cases is needed further.
RESUMEN
Asunto(s)
Humanos , Discriminación en Psicología , Métodos , Odorantes , Medicina de Precisión , Prevalencia , Estudios Prospectivos , OlfatoRESUMEN
Septooptic dysplasia is a rare anterior midline anomaly considered to be a mild form of lobar holoprosencephaly. We describe a case with unilateral optic nerve hypoplasia and the absence of a septum pellucidum.
Asunto(s)
Holoprosencefalia , Nervio Óptico , Displasia Septo-Óptica , Tabique PelúcidoRESUMEN
Several mtDNA mutations have been reported in Leber's hereditary optic neuropathy (LHON) associated with dystonia since it was identified as having the 14459 mutation. We report a patient with LHON and dystonia and his family. The patient presented with a slowly progressive bilateral visual loss and generalized dystonia. Brain MRI showed abnormal signal changes in both putamina. The 11778 mutation was confirmed by a Sfa I restriction digestion test. We found, in the literature, only one case of the 11778 mutation associated with dystonia, although it is one of the most common mutations in LHON. Our case suggests that the 11778 mutation should be taken into consideration in the pathogenesis of LHON associated with dystonia.
Asunto(s)
Humanos , Encéfalo , Digestión , ADN Mitocondrial , Distonía , Imagen por Resonancia Magnética , Atrofia Óptica Hereditaria de LeberRESUMEN
Cervical endonetriosis with cystic change is extremely rare lesion. We experienced onecase of cervical endometriosis in 33 year old woman, who had no symptoms, so we reprot thecase and brief review of literatures.