Pineoblastoma en el adulto. A propósito de un caso

Fundamento: Los pineoblastomas son tumores cerebrales infrecuentes dentro del grupo de los tumores primitivos neuroectodérmicos. La presentación clínica por lo general está relacionada con la obstrucción del acueducto de Silvio, lo que ocasiona hidrocefalia e hipertensión intracraneal. Objetivo: Describir las características clínicas e imagenológicas de un paciente adulto con diagnóstico de pineoblastoma. Presentación de caso: Masculino, 33 años, que comenzó con disminución de la agudeza visual que evolucionó a la amaurosis bilateral y trastorno de la marcha. Se diagnosticó hidrocefalia obstructiva triventricular, por lo cual se realizó tercer ventriculostomía endoscópica. Se decidió un abordaje supracerebeloso infratentorial a la lesión tumoral, con apoyo endoscópico en posición semisentado; se logró la resección parcial. En estudio inmunohistoquímico se encontró Ki-67 mayor de 50 % de las células, neurofilamento y sinaptofisina positiva. Se concluyó como pineoblastoma. Recibió radioterapia convencional con Co-60, fraccionada, con un total de 30 dosis diarias de 2 Gy. La evolución del paciente a los 6 meses de operado fue satisfactoria. Conclusiones: El tratamiento combinado de cirugía y radioterapia constituye un esquema terapéutico ideal en este tipo de lesiones tumorales. La endoscopia es una herramienta de gran valor en los abordajes quirúrgicos a la región pineal.

Background: Pineoblastomas are infrequent brain tumors among the neuroectodermal primitive tumors. Clinical presentation is usually related to Silvian aqueduct obstruction, which causes hydrocephalus and intracranial hypertension. Objective: To describe the clinical and imagenological characteristics in an adult patient diagnosed with pineoblastoma. Case presentation: Male, 33 years old, who started with visual acuity decline that evolved to bilateral amaurosis and gait disorder. Triventricular obstructive hydrocephalus was diagnosed, therefore, an endoscopic third ventriculostomy was realized. It was decided to use an infratentorial supracerebellar approach to the tumor lesion, with endoscopic support in semi-seated position; partial resection was achieved. In immunohistochemical study, Ki-67 was found to be higher than 50% of the cells, neurofilament and synaptophysin positive. It was concluded as pineoblastoma. He received fractionated Co-60 conventional radiotherapy, with a total of 30 daily doses, 2 Gy. The evolution of the patient 6 months after surgery was satisfactory. Conclusions: The combined treatment of surgery and radiotherapy constitutes an ideal therapeutic scheme in this type of tumor lesions. Endoscopy is a tool of great value in surgical approaches to the pineal region.

DWI in differential diagnosis between dysembryoplastic neuroepithelial tumors and low-grade glioma / 中华全科医师杂志

Clinical and imaging data of 11 patients with dysembryoplastic neuroepithelial tumors (DNET) and 15 patients with low-grade glioma (LGG) admitted in Northern Jiangsu People's Hospital were analyzed retrospectively.Routine MRI scan,diffusion weighted imaging (DWI) and enhanced scan were performed.The workstation automatically generated apparent diffusion coefficient (ADC) maps and then to obtain ADC values of the tumor parenchymal area and the contralateral normal reference area.Relative tumor/reference ADC values (rADC) were also calculated.The ADC values of parenchymal regions of tumor and contralateral normal reference areas and the rADC between DNET and LGG were compared.There was significant difference in age distribution between the two groups [(16.6± 13.1) vs.(43.0± 19.2) years,t=3.938,P＜0.01].Six out of 11 DNET cases and none of 15 LGG cases were cuneiform or fan-shaped (P＜0.01);5/11 DNET and 0/15 LGG showed circular high signal in fluid attenuated inversion recovery-T2 weighted imaging (T2FLAIR) sequence (P＜0.01),while there no significant differences in intracapsular segmentation,peritumor edema and mass effect,enhancement,and skull compression between two groups (all P＞0.05).The ADC values of tumor parenchymal regions in both groups were significantly higher than those in contralateral reference regions (both P＜0.01),the rADC of DNET was significantly higher than that of LGG (P＜0.01).It is difficult to identify DNET and LGG by conventional image morphology,however the rADC value of DNET in DWI is significantly higher than that of LGG,and can provide important reference for differential diagnosis between them.

A Case of Long-term Survival in a Patient with Primary Primitive Neuroectodermal Tumor of the Lung / 고신대학교의과대학학술지

Primitive neuroectodermal tumor (PNET) arising primarily in the lung is an extremely rare and aggressive malignancy with poor chances of patient survival. We present a case of long-term survival by a 29-year-old woman with PNET diagnosed after a hertological and immunohertochemical examination of a biopsy specimen obtained by performing video-assisted thoracic surgery. The patient underwent a left lower lung lobe lobectomy and 6 cycles of adjuvant chemotherapy. The patient has been free of any symptoms of the recurrence of the disease for 6 years after treatment completion.

Sarcoma de Ewing extraesquelético de rápido crecimiento en paciente de 2 años: Reporte de caso / Fast growing extraskeletal Ewing sarcoma in a 2 year old patient: Case report

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.

Renal Ewing's sarcoma/primitive neuroectodermal tumor: a case report and literature review / 北京大学学报(医学版)

Ewing's sarcoma/primitive neuroectodermal tumor (EWS/PNET) in the kidney is a rare but high-grade malignant tumor that affects predominantly elder children and adolescents.Patients mostly present with nonspecific symptoms such as abdominal pain and gross hematuria.Since EWS/PNET has a rapid clinical progression with early metastasis and death,it is essential to make an accurate and early diagnosis.Once diagnosed,multimodality treatment,including radical surgery combined with adjuvant chemotherapy,and radiotherapy if necessary,is recommended.Unfortunately,there are no characteristic signsthat have been described in ultrasonography or any other imaging modalities so far.The diagnosis of EWS/PNET is now based on a classical histological and immunohistochemical investigation complemented by a demonstration of specific chromosomal changes.Strong immunoreactivity to CD99 is ubiquitous,and t(11;22) translocation is seen in approximately 90％ of EWS/PNET.Herein,we report a patient with such condition.The patient was a young woman,and she presented with sudden right flank pain clinically.Ultrasonography revealed a large heterogeneous mass in the lower pole of her right kidney.The tumor compressed the renal pelvis and led to upper pole caliectasis.Color Doppler demonstrated blood flow with a pulsatile arterialized waveform within the mass.The patient received radical nephrectomy with right renal vein and vena cava thrombectomy.A search for other sites of tumor involvement yielded negative results.And six cycles of chemotherapy were sequentially performed.The diagnosis of EWS/PNET was confirmed based on primitive small round cell histology and characteristic immunohistochemical results.She was still alive with no evidence of recurrence five years after initial diagnosis.We would like to point out that ultrasound is still a useful method for initial assessment,and ultrasound-guided fine needle aspiration may play an important role in determining preoperative diagnosis.

Primitive neuroectodermal tumor of the maxillary sinus in an elderly male: A case report and literature review

Primitive neuroectodermal tumor (PNET), which belongs to the Ewing's sarcoma (ES) family of tumors, is mainly seen in children and young adults. PNETs are extremely rare in the maxilla. Here, we report a case of PNET of the left maxillary sinus in an elderly male. Magnetic resonance imaging (MRI) revealed a slightly enhanced solid mass occupying the left maxillary sinus and infiltrating into the retroantral space. A partial maxillectomy was performed. Despite postoperative chemotherapy, follow-up computed tomography (CT) and MRI revealed a nodal metastasis in the submandibular space. Neck dissection was performed. However, the patient died 10 months after the second surgery because of distant metastasis to the liver. MRI and CT were particularly useful in detecting the extent of the tumor, recurrence, and metastasis. Further, a literature review of the previously reported PNET cases of the maxilla was carried out. In this paper, we also discuss the current approach for the diagnosis and management of these tumors.

Clinical outcomes of 36 children with peripheral primitive neuroectodermal tumor receiving comprehensive therapy / 肿瘤

Objective: To investigate the clinical features of children with peripheral primitive neuroectodermal tumor (pPNET) and the efficacy of comprehensive therapy in these patients. Methods: The medical records and the follow-up information of 36 children with pPNET were collected and reviewed. All these patients received surgery, chemotherapy and radiotherapy between January 2002 and January 2013 in Tianjin Medical University Cancer Institute and Hospital. The therapeutic effect, recurrence rate and 1-, 3- and 5-year overall survival rates were analyzed. Results: At the end of the comprehensive therapy, 30 cases achieved complete remission, 2 cases achieved partial remission, 2 cases were in stable disease, one case had progressive disease, and one died of pPNET; the response rate reached 94.4%. By the end of the follow up, 14 (46.7%) cases had tumor recurrence; sixteen cases had a disease-free survival, 4 cases survived with tumor, while 12 cases died of recurrence and 4 cases died of tumor progression. The median survival time was 29 months. The 1-, 3- and 5-year overall survival rate of all 36 cases were 94.4%, 50.0% and 30.6%, respectively. The median survival time of cases who were initialy diagnosed of metastatic pPNET was poorer than that of the cases who were initialy diagnosed of pPNET without metastasis (10 months vs 33 months, P = 0.001). Conclusion: Children with pPNET have very poor prognosis. Those who are initialy diagnosed of pPNET without metastasis have a better clinical outcome, while those who develop the recurrence or metastasis have a poor prognosis.

Supratentorial primary neuroectodermal tumor (PNET) inside the third ventricle in adult: an rare case report / Tumor neuroectodérmico primário (PNET) supratentorial no terceiro ventrículo em adulto: um raro relato de caso

The PNET of CNS are considered malignant undifferentiated tumors, and it represents about 2,8% of all tumors found on infants and teenagers, more rarely found on adults. In the present article will report the case of a patient, male, 23 years-old, with nodular lesion inside the third ventricle, admitted on emergency room with acute intense headache, drowsiness, vomiting and visual clouding, started three days before. Although there have been advances in diagnosis and treatment of PNET in children, few publications were found on the efficiency of available treatment options on adults. In our patient the lesion was completely removed by a anterosuperior interhemispheric transcallosal craniotomy, and subsequently diagnosed as PNET by anatomopathological. Postoperative hydrocephaly was installed and reverted with a ventriculoperitoneal shunt, with clinical and neurological status improvement. The patient died 18 months after diagnosis, due to respiratory hospitalar infection...

Os PNET do SNC são considerados tumores malignos indiferenciados e representam cerca de 2,8% de todos os tumores encontrados em crianças e adolescentes, sendo mais raramente encontrados em adultos. Neste presente artigo, relatamos o caso de um paciente, do sexo masculino, com 23 anos de idade, com lesão nodular dentro do terceiro ventrículo, que foi admitido na emergência com cefaleia intensa e aguda, sonolência, vômitos e turvação visual, iniciados três dias antes da admissão. Embora tenha havido avanços no diagnóstico e tratamento de PNET em crianças, poucas publicações foram encontradas sobre a eficiência de opções de tratamento disponíveis em adultos. No nosso paciente a lesão foi completamente removida por uma craniotomia ântero-transcalosa inter-hemisférica; posteriormente, ele foi diagnosticado como PNET por meio do exame anatomopatológico. A hidrocefalia instalada no pós-operatório foi revertida com uma derivação ventrículo-peritoneal, com melhora do quadro clínico e neurológico. O paciente morreu 18 meses após o diagnóstico, em decorrência de uma infecção hospitalar respiratória...

Ewing's Sarcoma of the Lesser Sac Masquerading as a Pancreatic Tumor

Extraosseous Ewing's sarcoma/primitive neuroectodermal tumor (ES/PNET) is an uncommon, aggressive, and malignant tumor with a poor patient outcome. Its occurrence in the lesser sac is a rare event and to the best of our knowledge, has not been previously described. The present case was clinically and radiologically misdiagnosed as a pancreatic tumor/gastrointestinal stromal tumor. Histopathology revealed a tumor with "small round cells" that were positive for CD99, confirming the diagnosis of ES/PNET. This report highlights the importance of considering Ewing's sarcoma in the differential diagnosis of intraabdominal, extraintestinal masses.

Diagnosis and treatment of primitive neuroectodermal tumor / 国际肿瘤学杂志

Primitive neuroectodermal tumor (PNET) is a kind of malignant tumor, which most often affects children and adolescents. The incidence of PNET has risen recently. PNET has low early diagnosis rate and poor treatment effect. With the application of RT-PCR and FISH in pathological diagnosis, and MRI and PET-CT in imageological diagnosis, as well as the implementation of target treatment and multidisciplinary integrated treatment concept in the treatment, the pathogenesis, diagnosis technology and treatment means of of PNET have made remarkable progress.

MRI and pathological features of peripheral primitive neuroectodermal tumors:Analysis of 7 cases / 中国医学影像技术

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.

Clinical and pathological analysis of primitive neuroectodermal tumor of adrenal / 中华泌尿外科杂志

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.

Derrame pleural incomum: metástase pleuropulmonar de tumor neuroectodérmico primitivo / Uncommon pleural effusion: pleuropulmonary metastasis from primitive neuroectodermal tumor

O tumor neuroectodérmico primitivo é uma neoplasia com diferenciação neural de comportamento invasivo que origina metástases para diversos órgãos. Relatamos um caso de tumor neuroectodérmico primitivo primário em axila com metástases para pulmão, pleura, osso, músculo ilíaco e medula óssea. Enfatizamos o achado incomum da análise citológica do líquido pleural.

Primitive neuroectodermal tumor is an invasive neoplasm with neuronal differentiation, which frequently results in metastasis in various organs. We report the case of a patient with primitive neuroectodermal tumor whose primary site was the axilla. The patient presented with metastases in the lung, pleura, bone, iliac muscle and bone marrow. We highlight the uncommon finding in the pleural fluid cytology.

Sarcoma de Ewing / Ewing's Sarcoma

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.