Esophageal subepithelial lesion diagnosed as malignant gastrointestinal neuroectodermal tumor

A 21-year-old male visited our hospital with a complaint of aggravating dysphagia and odynophagia for a few days.Esophagogastroduodenoscopy showed huge bulging mucosa with an intact surface causing luminal narrowing at 35 cm from the incisor teeth.Endoscopic ultrasonography showed an about 35 mm sized irregular margined in-homogenous hypoechoic lesion with an obscure layer of origin.Endoscopic ultrasonography fine needle aspiration revealed spindle cell proliferation without immunoreactivity for CD117,SMA,and cytokeratin.The patient underwent excision of the subepithelial lesion at the distal esophagus.On pathologic examination of the specimen,the tumor was composed of short fascicles of oval to spindle cells with eosinophilic and clear cytoplasm and vesicular nuclei.The tumor cells were positive for S-100 and SOX10and negative for CD117,SMA,HMB-45,melan-A,cytokeratin,and CD99.The split-apart signal was detected in EWSR1 on FISH,suggesting a malignant gastrointestinal neuroectodermal tumor.At the time of writing,the patient is on radiation therapy at the operated site of esophagus and doing well,with no recurrence for three months.Malignant gastrointestinal neuroectodermal tumor is a rare gastrointestinal tumor with features of clear cell sarcoma,without melanocytic differentiation,and shows a poor prognosis.This is the first reported case of malignant gastrointestinal neuroectodermal tumor arising as subepithelial lesion in the esophagus.

Peripheral primitive neuroectodermal tumor of the kidney presenting with pulmonary tumor embolism: A case report

Peripheral primitive neuroectodermal tumor(PNET) of the kidney is a rare, aggressive tumor known for its recurrence and metastatic potential. Despite the frequency of venous extension to the renal veins and inferior vena cava, pulmonary tumor embolism at the initial presentation is not common. We report a case of 22-year-old female with PNET of the kidney who presented with tumor embolism in the inferior vena cava(IVC) and bilateral pulmonary artery. The patient underwent surgical resection and histopathological analysis confirmed the presence of tumor within the IVC and pulmonary arteries. The patient received adjuvant chemotherapy and is currently doing well on follow-up.

Huge peripheral primitive neuroectodermal tumor of the small bowel mesentery at nonage:A case report and review of the literature

Extraskeletal Ewing's sarcoma/peripheral primitive neuroectodermal tumor(E-EWS/pP NET) is a rare aggressive malignant small round cell tumor. In this report, we present the case of a 15-year-old boy who suffered from acute abdominal pain accompanied by hematemesis and melena, and was eventually diagnosed with E-EWS/p PNET. To date, there have been only five reported cases of E-EWS/pP NET of the small bowel including the patient in this report. To the best of our knowledge, this is the first documentation of a pP NET of the small bowel mesentery at nonage. All these have made this report rare and significant.

Long-term survival of a patient with a large adrenal primitive neuroectodermal tumor: A case report

BACKGROUND Adrenal primitive neuroectodermal tumor(PNET) is an extremely rare malignant tumor with poor prognosis and of neural crest origin. Herein, we report a case of adrenal PNET and summarized its clinical and pathological characteristics on the basis of 16 patients reported recently.CASE SUMMARY A female patient aged 25 years presented with right lumbago for 12 mo, and preoperative computed tomography showed a huge right adrenal mass. She received tumorectomy, and post-operative pathological examination showed adrenal PNET. After surgery, she underwent adjuvant chemotherapy and was followed up 31 mo after surgery. She received brachytherapy for right paracolic and hepatic metastases. She was alive and followed up for 60 mo. In available studies, only 57.14%(4/7) and 44.44%(4/9) were positive for the expression of neuron-specific enolase and synaptophysin, respectively, although CD99 expression was found in all the patients(100%; 10/10).CONCLUSION It is concluded that adrenal PNET is very rare and highly malignant, and histology is a golden standard in its diagnosis. Surgery and adjuvant therapy is the main treatment.

Primitive neuroectodermal tumors of the abdominal wall and vulva in children: Report of two cases and review of the literature

BACKGROUND Primitive neuroectodermal tumors are rare,highly malignant small round cell tumors belonging to the Ewing sarcoma family.The purpose of this article is to present clinical manifestation,histology,treatment,and prognosis of two primitive neuroectodermal tumors(PNETs)in extremely rare anatomic locations,the abdominal wall and vulva.CASE SUMMARY Case 1 was a 66-month-old girl with lesions on the abdominal wall;tumor size was about 3.4 cm×6.1 cm×2 cm.The patient underwent radical resection of the tumor.After the operation,an alternating vincristine,doxorubicin,and cyclophosphamide/ifosfamide and etoposide(IE)regimen was given for eight cycles,and the patient survived for 66 mo without progression.Case 2 was a 40-month-old girl,with a vulvar lesion;tumor size was about 3.3 cm×5 cm×2.5 cm.The tumor was partially resected by surgery.The family left treatment after two cycles of vincristine,pirarubicin,and cyclophosphamide/IE chemotherapy,and the patient died at home six months after surgery.CONCLUSION PNET is a rare,fast-growing,highly malignant tumor that requires histologic and molecular analyses for exact diagnosis,and multimodal treatment is required to achieve a good prognosis.

MRI Features of Intracranial Primitive Neuroectodermal Tumors in Adults:Comparing with Histopathological Findings

The MRI appearances of 7 adult patients with pathologically proven intracranial primitive neuroectodermal tumors (PNET) were retrospectively analyzed. The MRI features were compared with findings in pathology and surgery. In this group, the tumor masses were most commonly found in the semisphere of cerebrum and in the vermis of cerebellum. They were relatively large and 4 were in lobulated shape. All of them had well defined margins. MR images showed the tumors to be mildly or obviously hypointense on T 1 weighted images and hyperintense on T 2 weighted images. Most masses had heterogeneous appearances with some cystic and necrotic areas. Intratumoral haemorrhage and focal calcification were occasionally seen. Mostly, there was no or only mild surrounding edema. Marked inhomogeneous contrast enhancement on MRI was seen in 6 cases except one. Two patients with multiple intracranial metastases were revealed on MR images. In this series, there was good correlation between MRI features and findings in pathology and surgery. These results showed that certain MRI features might suggest the diagnosis of intracranial PNET in adults. MRI is an effective technique to detect these tumors and is helpful to treatment planning and follow up.

Primitive Neuroectodermal Tumor as the Second Malignant Neoplasm in a Long-Term Survivor Child of Acute Lymphoblastic Leukemia: A Case Report

Acute lymphoblastic leukemia(ALL)is a common pediatric cancer.The second malignant neoplasms(SMNs)in long-term survivors of pediatric ALL are relatively rare.Herein we report a 10-year-old girl who was diagnosed as primitive neuroectodermal tumor(PNET)5 years after the initial diagnosis of ALL with radiotherapy・free treatment.PNET is an exceedingly rare neoplasm in SMNs of survivors of childhood ALL.It is predisposed to be misdiagnosed and the pathogenesis is unclear.The outcome is poor.Long-term follow-up is necessary for the survival children of ALL.

Primary primitive neuroectodermal tumor in the pericardium-a focus on imaging findings:A case report

BACKGROUND Primitive neuroectodermal tumors(PNETs)are rare,sporadic malignant tumors of the peripheral nervous system,bone,or soft tissues.However,to the best of our knowledge,only three cases of PNET in the pericardium have been reported in the English literature,and their magnetic resonance imaging findings have not previously been described.CASE SUMMARY A 3-year-old boy was hospitalized with a 1-wk history of recurrent vomiting and weakness.Detailed history-taking revealed no evidence of heart disease.Computed tomography demonstrated a soft tissue mass in the left pericardial cavity with heterogeneous contrast enhancement.The border between the mass and the heart was poorly defined.Thoracotomy revealed a mass invading the left ventricle,with a high risk of bleeding.The mass was considered inoperable.A biopsy was performed,and the histological and immunohistochemical findings confirmed the diagnosis of primary PNET of the pericardium.The patient received four cycles of standard chemotherapy.Chest magnetic resonance imaging 3 mo after the initiation of chemotherapy revealed that the tumor in the pericardium still existed,but its volume had slightly decreased.The patient was lost to follow-up,and the final outcome was therefore unknown.CONCLUSION Medical imaging plays an important role in defining the pericardial origin of PNET and understanding its characteristics.Magnetic resonance imaging can provide more information on the tumor than computed tomography and may thus aid therapeutic planning.

Total pelvic exenteration and a new model of diversion for giant primitive neuroectodermal tumor of prostate: A case report and review of the literature

The present study reports a rare primitive neuroectodermal tumor (PNET) of prostate.A 27-year-old male was admitted to Harbin Medical University Cancer Hospital (Harbin,China) for dysuria and dyschezia. Magnetic resonance imaging (MRI) revealed a large mass thatmay involve the bladder and rectum next to the prostate. Histopathological analysis of biopsyof prostate indicated mesenchymal origin tumor, and immunohistochemistric stainingconfirmed diagnosis of PNET of prostate. En bloc total pelvic exenteration and double barrelsigmoidostomy were performed. Double stomas in the skin incision were used for fecal andurinary diversion, respectively. Short-term outcome is satisfactory, while long-term efficacyremains to be poor. Clinical features of PNET of prostate should be paid much more attentionand radical surgery and adjuvant chemotherapy should be recommended.

Primitive neuroectodermal tumor of the prostate in a 58-year-old man:A case report

BACKGROUND Primitive neuroectodermal tumor(PNET),especially located in the prostate,is a rare tumor that mainly occurs in young men.Bladder or rectum invasion and distant metastasis are strongly associated with a poor prognosis.Combination therapy,including radical surgery,adjuvant chemotherapy,and radiotherapy,is available.We present a case of prostatic PNET and a review of 17 cases identified in the literature.CASE SUMMARY A 58-year-old man was admitted complaining of dysuria for 2 years.Computed tomography and magnetic resonance imaging showed a large cystic-solid mass in the pelvic cavity compressing the surrounding bladder and rectum.The mass was iso-to hyperintense on T1-weighted imaging(WI)and heterogeneously hyperintense on T2WI.Cystic degeneration and necrosis were seen in the tumor,and solid tissues within the mass enhanced on contrast-enhanced scan.The patient underwent robot-assisted laparoscopic pelvic tumor resection.Histologically,the presence of many small round cells that were positive for expression of CD99,vimentin,and synaptophysin established the diagnosis of PNET in the prostate after surgery.The patient underwent adjuvant chemotherapy.During 34 mo of follow-up,the patient had no signs or symptoms of recurrence or residual disease.CONCLUSION We present the case of the oldest prostatic PNET patient,who has a good prognosis.This illustrates how older men with prostatic PNET may also benefit from the combination therapy,like younger adults,and achieve a long-term survival.As always,PNET should be considered in the differential diagnosis of aggressive prostatic tumors in young men.

Melanotic Neuroectodermal Tumor of Infancy —A Rare Case of an Encapsulated Tumor

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare benign, locally invasive neoplasm afflicting the infant more often in the craniofacial region. The current understanding is that this tumor’s origin is neural crest cells. The typical presentation is that a rapidly growing non-ulcerated anterior maxillary mass occurs in an infant usually less than six months old. This tumor may involve other areas including the ovaries, epididymis, femur, mandible, and brain. We present that an 8-month-old infant with a maxillary lesion of MNTI appeared encapsulated, which is a hitherto unreported feature. Investigations leading to the diagnosis and the management of the case are also presented. The need to report cases of this rare entity cannot be overemphasized as this will go a long way in adding new knowledge about its biological nature.

Detection of EWS-FLI1 fusion transcripts in paraffin embedded tissues of peripheral primitive neuroectodermal tumors by nested reverse transcription polymerase chain reaction

Objective: To assess the feasibility and significance of detecting EWS-FLI1fusion transcripts in paraffin embedded tissues of peripheral primitive neuroectodermal tumors (PNETs) by nested reverse transcription polymerase chain reaction(RT-PCR). Methods: Twelve formalin-fixed and paraffin-embedded (FFPE) samples of PNET were retrieved from archive and consultation materials, together with eight cases of controlled tumor. EWS-FLI1 fusion transcripts were detected by nested RT-PCR. Home-keeping gene β-actin was used to detect the quality of mRNA. Results: β-actin mRNA was detected in 9 of the 12 tumor cases. EWS-FLI1 fusion transcripts were detected in 6 cases, among which 4 had a “type 1” fusion transcript and 2 had a “type 2” fusion transcript. None of the controlled tumor was detected the fusion gene. Conclusion: RT-PCR is a feasible method for the detection of EWS-FLI1 fusion transcripts in FFPE tissues in PNET and the result is meaningful in differential diagnosis and prognostic evaluation.

Ewing sarcoma/primitive neuroectodermal tumor of the ureter:A case report and literature review

Ewing sarcoma/primary neuroectodermal tumors are rare,invasive,and small round blue cell tumors.There are few reports of its occurrence in the urinary system.Here,we present the first middle-aged female patient whose Ewing sarcoma primary site was in the ureter.The main clinical manifestation was intermittent hematuria.She was in good health after complete surgical resection and adjuvant radiotherapy.To date,there has been no recurrence or metastasis.Accurate early diagnosis and appropriate treatment can help prolong survival.18F-fluorodeoxyglucose positron emission tomography/computed tomography is expected to be an effective means of evaluating treatment effects and detecting metastasis and recurrence.In this article,besides introducing a case of Ewing sarcoma/primitive neuroectodermal tumor of the ureter,we review the literature to discuss the current status of diagnosis and treatment.

Peripheral Primary Neuroectodermal Tumour of the Ileum: A Case Report and Review of the Literature

Background: Ewing’s Sarcoma (ES)/peripheral Primitive Neuroectodermal Tumor (pPNET) is a rare aggressive malignant small round cell tumour. Most of them arise in bony sites, and they represent the second commonest primary osseous malignancy in adolescence and young adults. The localization of the small bowel is very rare, to our knowledge only 35 cases of ES/pPNET of the small bowel have been reported in the literature. Case Presentation: We report a case of pPNET of the ileum in a 26-year-old female, presented abdominal pain with a transit disorder. The clinical examination was unremarkable. The histological and immunohistochemical study confirmed the diagnosis of peripheral primary neuroectodermal tumours. The patient was treated by tumor resection followed by adjuvant chemotherapy. The evolution was good, without recurrence with a follow-up of 12 months. Conclusion: PNET of the ileum is very rare. We report this case to enrich the database of this rare clinical entity and to improve the management of patients with PNET of the ileum.

Ewings Sarcoma-Primitive Neuroectodermal Tumour-Rare Extraosseous Presentation

Introduction: Ewings sarcoma is uncommon in extra osseous locations. They belong to Ewings family of tumours and the primitive neuroectodermal tumour is often diagnosed based on immuno histochemistry and molecular genetic studies. Discussion: A 50-year-old gentleman presented with complaints of a swelling in the right thigh. With a diagnosis of soft tissue sarcoma, the patient underwent a wide local excision of the tumour. We review literature of the small round blue cell tumour. Conclusion: Extraosseous Ewings sarcoma presenting as a thigh swelling is uncommon. The sarcoma was vimentin positive and CD99 membrane positivity.

Malignant Extragastrointestinal Neuroectodermal Tumor Located at Right Cervical Region

Malignant Gastrointestinal Neuroectodermal Tumor (GNET) is a recently described rare malignant neoplasm, resembling “clear cell sarcoma of tendons and aponeuroses” morphologically, immunohistochemically and molecular pathologically. We will describe a case of soft tissue sarcoma located at right cervical region of a 9-year-old male patient, mimicking malignant GNET, which can be considered as extragastrointestinal counterpart of this tumor. These tumors have poor prognosis. This is unique, possibly the first case of a soft tissue sarcoma resembling GNET.

Clinical pathologic analysis of urologic primary primitive neuroectodermal tumor

Objective To explore clinico-pathological features,immunophenotype,treatment and prognosis of urologic primary primitive neuroectodermal tumor ( PNET) . Methods The clinical data of 3 patients with urologic PNET were analyzed retrospectively. All patients were male,aged 29,32 and 75 years respectively.

Diagnosis and treatment of spinal primitive neuroectodermal tumor

Objective To sum up the clinical experience in diagnosis and treatment of spinal primitive neuroectodermal tumor(PNET). Methods Thirteen patients with spinal PNET were included in the study from 1999 to 2009.There were 8 males and 5

Primary Ewing sarcoma of the kidney mimicking cystic papillary renal cell carcinoma in an older patient:A case repor

BACKGROUND Ewing’s sarcoma(ES)is a neuroectodermal tumor that typically occurs in the bones and soft tissues of children and young adults.Primary renal ES is rare;only a few cases and a small case series have been documented,and only four cases involved primary renal ES in older people(>65 years old).CASE SUMMARY Herein,we describe the radiological and pathological features of primary renal ES in an older person.A 76-year-old man complained of poor oral intake and was found to have a large cystic renal mass with indistinct margins on computed tomography.Ultrasound-guided biopsy revealed that the tumor contained small round blue cells.The patient underwent a right radical nephrectomy.The tumor cells showed diffuse membranous CD99,and nuclear friend leukemia integration 1 transcription factor and NK2 Homeobox 2.Fluorescence in situ hybridization revealed EWSR1 translocation.Postoperatively,18F-fluorodeoxyglucose positron emission tomography revealed no evidence of metastasis.The patient was diagnosed with primary renal ES.Six months following the surgery,local recurrence and distant metastasis were observed.Primary renal ES is rare and often lethal in older individuals.The specific imaging findings are unknown,and treatment protocols have not been standardized.CONCLUSION This case report describes the radiological and pathological features of primary renal ES in an older person.

Primary Ewing＇s sarcoma/primitive neuroectodermal tumor of the urogenital tract in children

Background Primary Ewing＇s sarcoma/primitive neuroectodermal tumor （ES/PNET） of urogenital tract is a rare condition with non-specific clinical presentations, which can make it difficult to diagnose. In this study, we summarize the clinical presentation, pathological features, therapeutic strategies, and prognosis of ES/PNET.