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Carcinoma NUT da glândula parótida : um caso clínico
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Resumo(s)
J.C, sexo masculino, 34 anos, não fumador, com antecedentes familiares de neoplasias malignas, é referenciado ao IPO por massa na região parotídea esquerda, com sete meses de evolução, dolorosa, de consistência sólida, contornos regulares e móvel em relação aos planos superficial e profundo. A ressonância magnética e a biópsia aberta realizadas revelaram características sugestivas de malignidade. No seguimento da biópsia aberta, a lesão fistulizou à pele. O doente foi submetido a parotidectomia total e celulectomia esquerda e o resultado histológico, complementado por estudo genético por FISH, determinaram o diagnóstico de Carcinoma NUT da glândula parótida. A PET-scan não detectou outros focos suspeitos. Apesar da falta de evidência acerca deste tipo raro e agressivo de carcinoma, caracterizado pela translocação t(15-19), envolvendo o gene NUT, com apenas dois casos descritos na glândula parótida, o doente realizou quimioterapia e radioterapia adjuvantes. A TAC pós-tratamento não detectou doença residual. Desafiando o reservado prognóstico característico deste carcinoma, com sobrevida tipicamente inferior a 1 ano, o doente continua vivo 13 meses depois do diagnóstico, sem evidência de doença residual.
JC, male, 34 years old, non-smoker, with a well-documented family history of cancer, is referred to the IPO for evaluation of a painful left parotideal growth. This mass had been detected 7 months earlier, was tender to palpation, showed a solid consistency, regular contours and was mobile against the adjoining tissues. Signs suggestive of malignancy were found in both MRI and open biopsy. The open biopsy was complicated by formation of fistula to the skin. The patient was submitted to total left parotidectomy and cellulectomy. The pathological exam of the operatory piece, complemented by FISH technique revealed a NUT parotid carcinoma. PET-scan showed no evidence of disease in other locations. Considering the lack of evidence on this rare and aggressive Carcinoma subtype, characterized by a karyotype containing a t(15-19) translocation involving the NUT gene, and the exceptionally atypical location (only 2 cases of NUT involving the parotideal area have been reported thus far), the patient underwent adjuvant chemio and radiotherapy. Post-treatment CT scan revealed no signs of disease. After 13 months, the patient is still alive and showing no signs of disease, thus defying the grim prognosis of this condition, that most frequently carries a less-than-a-year survival rate.
JC, male, 34 years old, non-smoker, with a well-documented family history of cancer, is referred to the IPO for evaluation of a painful left parotideal growth. This mass had been detected 7 months earlier, was tender to palpation, showed a solid consistency, regular contours and was mobile against the adjoining tissues. Signs suggestive of malignancy were found in both MRI and open biopsy. The open biopsy was complicated by formation of fistula to the skin. The patient was submitted to total left parotidectomy and cellulectomy. The pathological exam of the operatory piece, complemented by FISH technique revealed a NUT parotid carcinoma. PET-scan showed no evidence of disease in other locations. Considering the lack of evidence on this rare and aggressive Carcinoma subtype, characterized by a karyotype containing a t(15-19) translocation involving the NUT gene, and the exceptionally atypical location (only 2 cases of NUT involving the parotideal area have been reported thus far), the patient underwent adjuvant chemio and radiotherapy. Post-treatment CT scan revealed no signs of disease. After 13 months, the patient is still alive and showing no signs of disease, thus defying the grim prognosis of this condition, that most frequently carries a less-than-a-year survival rate.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2017
Palavras-chave
Carcinoma NUT Parótida Biópsia Parotidectomia Quimiorradioterapia