Résumé
El sarcoma de Ewing forma parte de una familia de tumores que se caracterizan por presentar translocaciones que involucran al gen EWS y algún miembro de la familia ETS que posee un dominio de unión al ADN. Se presenta el caso de un paciente de dos años de edad con una masa cervical de crecimiento rápido que por compresión local comprometió estructuras nerviosas manifestándose inicialmente con un retardo en el neurodesarrollo. Se diagnosticó Sarcoma de Ewing/Tumor neuroectodérmico primitivo por biopsia. Este es un tipo de tumor raro con una presentación inusual a nivel cervical; el cual debe tenerse en cuenta al momento de evaluar pacientes con masas cervicales en especial las de crecimiento rápido con el fin de dar un tratamiento preciso y oportuno.
Ewing's sarcoma is part of a family of tumors that is characterized by translocations that involve the EWS gene and a member of the ETS family that has a DNA binding domain. The case of a two-year-old patient who was admitted in our institution because of a rapidly growing cervical mass associated to neurodevelopment setback and functional gradual loss due to nerve compression. Ewing's sarcoma / primitive neuroectodermal tumor was diagnosed by biopsy. This is a rare type of tumor with an unusual presentation in this location; which should be taken into account when assessing a patient with cervical masses, especially those of rapid growth in order to provide an accurate and opportune treatment for improving outcomes.
Sujets)
Humains , Sarcome d'Ewing , Tumeurs des tissus mous , Tumeurs neuroectodermiques primitives périphériques , Tumeurs de la tête et du couRésumé
Objective To analyze MRI features of peripheral primitive neuroectodermal tumor (pPNET) in comparison with pathological findings. Methods The clinical manifestation, pathological features and the MRI appearances of 7 patients with pathologically proved pPNET were analyzed retrospectively. Results Among 7 patients, 2 patients located in intracalvarium, 2 in lower extremities, 1 in vertebral canal and extended outside of vertebral canal, 1 in cavitas pelvis and involved sacrum, and the rest 1 in the retroperitoneal space. The lesions in soft tissue manifested as iso-intensity on T1WI, slight hyper-intensity on T2WI with cystic degeneration and hemorrhage. Pseudo-capsule was seen in 1 patient. The solid parts of pPNET enhanced markedly after the contrast agent was injected. The adjacent bones were usually involved. pPNET in bone presented as osteolytic destruction of bone with large soft tissue mass. Immunohistochemical examination showed CD99 expression in all 7 patients, synaptophysin (Syn) expression in 4, Chromogranin (CgA) expression in 3, neuron specific enolase (NSE) expression in 2, vimentin (Vim) expression in 2 and EMA in 1 patient. Conclusion MRI has important reference value in diagnosis of pPNET, but final diagnosis still depends on the pathological and immunohistochemical examination.
Résumé
Objective To analyze the clinical and pathological features of the adrenal primitive neuroectodermal tumors(PNET). Methods Four cases of PNET were analyzed.Of them,2 were males and 2 females,aged from 21 to 30 years old with a mean age of 24.No significant abnormal data was found in routine laboratory and endocrine examinations.The CT scan showed a soft tissue mass with unclear boundary and cystic changes in adrenal area.The tumor diameter was 8-17 cm. Results One patient refused treatment alter diagnosed by biopsy and died 6 months later.Another one received palliative operationand died after 8 months.The third patient was found distant metastasis 1 month after operation and had radiotherapy and chemotherapy.The fourth patient was found local tumor recurrence 1 month after operation,and started chemotherapy.All patients were diagnosed by pathology.At HE staining,tumor was consisted of even,uniform small round cells;the cells distributed diffusively or formed lobulated structures (Homer-Wright rosette).Immunohistochemical staining showed CD99 positive in all 4 patients. Canclusion The adrenal PNET is a rare disease originated from primitive neuroectodermal,mostly occurs between 20 and 30 years old,and has non-specific clinical and imaging findings.Histopathologieal examination is the key point for diagnosis.Rapid progression,highly malignant,poor prognosis are the characteristics of this disease.
Résumé
Sarcoma de Ewing é um câncer ósseo, de pequenas células circulares, que corresponde a cerca de 4 a 6% dos tumores ósseos primários. É diagnosticado na segunda década de vida, predominante no gênero masculino e raro na população negra. É originado na cavidade medular e encontrado nas epífises dos ossos. Dor e febre são sintomas freqüentes que levando ao falso diagnóstico de osteomielite. Geralmente há relato de trauma prévio. Radiograficamente observam-se rarefação óssea, reação periostal, e neoformação óssea (casca de cebola). A finalidade desse estudo foi o de levantar dados sobre essa patogenia e apresentar um caso clínico.
Ewing's sarcoma is a bone tumor, with small round-cell, comprising 4 to 6% of primary bone tumors. It is diagnosed in the second decade of life, with men predominance and it is rare in black population. It originates in the marrow cavity and is found in bone's epiphyses. Pain and fever often lead to a false diagnostic of osteomyelitis. Normally there is a report of previous trauma. Radiographically there are areas of bone rarefaction, periostal reaction and bone neoformation (onion layers). The aim of this study was to raise some data about the pathogeny, and present a clinical case.