Peripheral primitive neuroectodermal tumor of the posterior mediastinum: A case report

Peripheral primitive neuroectodermal tumor(pPNET) is an extremely rare disease entity of malignant tumors belonging to the Ewing sarcoma family that usually occurs in children and adolescents. We describe a 41-year-old female who presented with right upper abdominal pain. Surgical resection and biopsy revealed small round-cell tumor. Combined with immunohistochemical analysis, pPNET was diagnosed. No evidence of recurrence was noted at 18 months postoperatively. Even thought pPNET is a highly malignant tumor, Wide tumor-free resection and multi-agent chemotherapy can also obtain good clinical outcomes.

Peripheral primitive neuroectodermal tumors:a rare case report

We aimed to explore the diagnosis and treatment of peripheral primitive neuroectodermal tumors （pPNETs）. We retrospectively analyzed the diagnosis and treatment process of a patient who was diagnosed with pPNETs by pathology. This case was a man with soft masses arising from the left chest wall near the armpit and left supraclavicular of a 47-year-old man. The patient mainly presented with the masses which increasing gradually with obvious pain. Needle biopsy showed that they were both metastatic adenocaroinoma. Ultrasonography B revealed blood flow of these two low density placeholders can be seen in the signal, not oppression axillary and vein. Radical resection of the masses were performed. Histopathologic study and immunohistochemistry （IHC） confirmed the masses to be peripheral primitive neuroectodermal tumors, pPNETs is a rare malignant small round cell tumor. CT and MRI examination can estimate the resectability of the tumor; Ultrasound B can make sure its inside blood supply and the positional relationship between the mass and the surrounding vasculature. The diagnosis of pPNETs is based primarily on histopathologic study and IHC, especially those with the characteristics of the Homer-Wright and neuroendocrine markers. Radical resection of the tumor is the most effective therapeutic method. The effect of adjuvant chemo-radiation is worth affirmation. Autologous stem cell rescue besides adjuvant chemotherapy has been associated with prolonged survival.

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.

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.

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.

Epithelioid malignant peripheral nerve sheath tumor of the bladder and concomitant urothelial carcinoma: A case report

BACKGROUND Epithelioid malignant peripheral nerve sheath tumor(EMPNST)of the bladder is a rare entity with devastating features.These tumors are thought to originate from malignant transformation of pre-existing schwannomas of pelvic autonomic nerve plexuses,and unlike the conventional malignant peripheral nerve sheath tumor(MPNST),are not associated with neurofibromatosis.The tumor has dis-tinctive morphological,immunohistochemical and molecular features.Addi-tionally,it tends to be more aggressive and have a higher mortality.This is the first case that presents with a synchronous urothelial carcinoma of the bladder and the epithelioid variant of MPNST in the literature.It’s also the second re-ported case of EMPNST originating from the bladder wall.CASE SUMMARY In this case report,we present the detailed clinical course of a 71-year-old patient with EMPNST of the bladder alongside a literature review.CONCLUSION During the management of EMPNST cases,offering aggressive treatment moda-lities to the patient,such as radical cystectomy,is appropriate for the best chance to contain the disease,regardless of the tumor stage and the extent of local disease at initial diagnosis.

Peripheral nerve tumors of the hand: Clinical features, diagnosis, and treatment

The majority of the tumors arising from the peripheral nerves of the hand are relatively benign.However,a tumor diagnosed as malignant peripheral nerve sheath tumor(MPNST)has destructive consequences.Clinical signs and symptoms are usually caused by direct and indirect effects of the tumor,such as nerve invasion or compression and infiltration of surrounding tissues.Definitive diagnosis is made by tumor biopsy.Complete surgical removal with maximum reservation of residual neurologic function is the most appropriate intervention for most symptomatic benign peripheral nerve tumors(PNTs)of the hand;however,MPNSTs require surgical resection with a sufficiently wide margin or even amputation to improve prognosis.In this article,we review the clinical presentation and radiographic features,summarize the evidence for an accurate diagnosis,and discuss the available treatment options for PNTs of the hand.

Molecular detection of EWS-Ets fusion transcripts and their clinicopathologic significance in Ewing’s sarcoma/peripheral primitive neuroectodermal tumor

Background Ewing＇s sarcoma/peripheral primitive neuroectodermal tumor （ES/pPNET） is often difficuh to distinguish from other small round cell tumors. The EWS-Ets gene fusions that result from chromosomal translocations in this tumor provide potential molecular diagnostic markers. To apply these molecular markers to commonly available archival materials, we evaluated the feasibility of detecting EWS-Ets including EWS-Flil and EWS-ERG fusion transcripts in paraffin-embedded tissues and its diagnostic value for detecting ES/pPNET. Methods Thirteen paraffin-embedded samples of ES/pPNETs were retrieved from archives. Thirteen cases of other tumors with small round cell features （including rhabdomyosarcoma, neuroblastoma, lymphoma, small ceil carcinoma, and desmoplastic small round cell tumor ） were used as negative controls. β-actin and β2- microglobulin were used as internal controls. A nested reverse transcriptase-polymerase chain reaction （RT- PCR）-based assay was performed to detect the EWS-Flil and EWS-ERG fusion transcripts. Results β-aetin and β2-mieroglobulin were detected in 10/13 and 13/13 ES/pPNETs, respectively. EWS- Flil fusion transcripts were detected in 11 of 13 （85%） ES/pPNETs. Three chimeric transcripts, all EWS-Flil, were detected in ES/pPNET samples. Among 11 EWS-Flil-positive cases, 7 eases had a type Ⅰ fusion transcript involving fusion of EWS exon 7 with Flil exon 6, 2 eases had a type Ⅱ fusion transcript involving EWS exon 7 with Flil exon 5, and 2 eases expressed fusion transcripts involving EWS exon 7 and Flil exon 8. Type Ⅰ EWS- Flil fusion predominated over other types. Fusion types could not be distinguished in the remaining 2 eases. Thirteen negative controls did not show detectable chimeric messages. There was a significant relationship between EWS-Flil fusion transcripts and CD99 expression. Conclusions Molecular detection of EWS-Flil fusion transcripts in formalin-fixed paraffin-embedded material by nested RT-PCR is feasible and is useful for the diagnosis and differential diagnosis of ES/pPNETs.

Effect of tumor necrosis factor inhibitors on rheumatoid arthritis-induced peripheral neuropathy A cohort study

In this historical cohort study, 236 patients with primary rheumatoid arthritis were treated with the tumor necrosis factor inhibitors, etanercept or infliximab （n = 80）, or by conventional methods （n = 156）. Results revealed that 11 patients developed varying types of peripheral neuropathy at 1-2 years post-treatment （mean 16 months）. The incidence of peripheral neuropathy in the tumor necrosis factor inhibitors treatment group was 8.8% （7/80）, which was significantly higher than the conventional treatment group （2.6%; 4/156）. The relative risk of developing peripheral neuropathy in the tumor necrosis factor inhibitors treatment group was 3.41 （95% confidence interval： 1.03 11.31）. Comparison of the tumor necrosis factor inhibitors revealed that etanercept and infliximab had no significant difference in terms of inducing peripheral neuropathy. Experimental findings indicate that tumor necrosis factor inhibitors may increase the risk of peripheral neuropathy.

Huge primitive neuroectodermal tumor of the pancreas:Report of a case and review of the literature

Primitive neuroectodermal tumor (PNET) of the pancreas is an extremely rare tumor that usually occurs in children or young adults. We report a case of a 33-year-old male patient with an 18 cm × 18 cm × 16 cm mass arising from the pancreatic body and tail with a one- day history of abdominal pain. Initial CT scan showed no signs of metastatic tumor spread. The tumor caused intrabdominal bleeding and the patient underwent primary tumor resection including partial gastrectomy, left pancreatic resection and splenectomy. Diagnosis of PNET was confi rmed by histology, immunohistochemistry and FISH analysis. All neoplastic cells were stained positive for MIC2-protein (CD99). Approximately one month after surgery, several liver metastases were observed and the patient underwent chemotherapy according to the Euro- Ewing protocol. Subsequent relaparotomy excluded any residual hepatic or extrahepatic abdominal metastases. Although PNET in the pancreas is an extremely rare entity, it should be considered in the diffential diagnosis of pancreatic masses, especially in young patients. This alarming case particularly illustrates that PNET in the pancreas although in an advanced stage can present with only a short history of mild symptoms.

Malignant peripheral nerve sheath tumor of proximal third tibia

A 16-year-old man had aswelling over the anterior aspect of the proximal third of the tibia for 1 year, which was peanut size initially and progressively increased to its present size of 10 cm × 8 cm. He underwent fine needle aspiration cytology(FNAC) twice during this period and reported aspindle cell sarcoma. Malignant peripheral nerve sheath tumor(MPNST) is a malignancy of the connective tissue surrounding the nerves. Previously, MPNST was also known as neurofibrosarcoma, malignant schwannoma, andneurogenic sarcoma. We are reporting this case for its rarity and peculiar mode of presentation. FNAC/core biopsy can be used as an effective tool to achievethe correct pathological diagnosis.

Primitive neuroectodermal tumor of uterus——A rare entity

Primitive neuroectodermal tumor (PNET) of uterus is the rare of the rarest among the tumors of female genital tract. We herein reported a 32 years old female operated for lower abdominal lump,which was diagnosed,as PNET later confirmed by immunohistochemistry (IHC). She was lost to follow-up and presented 10 months later with recurrence. She was treated with cyclical combination chemotherapy followed by definitive surgery and is in complete remission at present.

The prognostic value of C-X-C motif chemokine receptor 4 in patients with sporadic malignant peripheral nerve sheath tumors

Background: Recent studies indicate that C-X-C motif chemokine receptor 4(CXCR4) and its ligand, C-X-C motif chemokine ligand 12(CXCL12), stimulate expression of the cell cycle regulatory protein Cyclin D1 in neurofibromatosis 1-associated malignant peripheral nerve sheath tumor(MPNST) cells and promote their proliferation. In this study, we measured the expression of CXCR4, CXCL12, and Cyclin D1 proteins in sporadic MPNST tissues from Chinese patients and investigated their prognostic values.Methods: CXCR4, CXCL12, and Cyclin D1 protein expression in samples from 58 Chinese patients with sporadic MPNST was assessed with immunohistochemical staining.Their prognostic values were evaluated with Kaplan-Meier analysis and a log-rank test. Multivariate Cox regression analysis was used to identify independent prognostic factors.Results: High expression of CXCR4, CXCL12, and Cyclin D1 was observed in 19(32.8%), 32(55.2%), and 16(27.6%)samples, respectively. CXCR4 expression was positively correlated with CXCL12 expression(r = 0.334, P = 0.010) and Cyclin D1 expression(r = 0.309, P = 0.018). Patients with high CXCR4 expression showed longer overall survival than those with low CXCR4 expression(χ~2 = 4.642, P = 0.031).Conclusion: High CXCR4 expression may define a specific subtype of sporadic MPNST with favorable prognosis.

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.

Application of Circulating Tumor Cells in Peripheral Blood in Judging the Prognosis of Patients with Renal Cancer and Related Indexes of Blood Coagulation

Objective: To investigate the value of the number of circulating tumor cells (CTC) in peripheral blood in the prognosis and coagulation-related indicators of patients with renal cancer. Methods: 65 patients with renal cell carcinoma (RCC) confirmed pathologically were divided into CTC positive group and CTC negative group according to the CTC count (5 pcs/3.5 ml). Compare the age, gender, tumor location, TNM (clinical stage), pathological grade, tissue type, lymph node metastasis, distant metastasis, prognosis and prothrombin time (PT), fibrinogen (FIB), partial coagulation of the two groups of patients The correlation between the results of zymogen time (APTT) and D-dimer (DD) and the number of CTC. Results: There were significant differences in TNM, lymph node metastasis, and distant metastasis between the two groups (P < 0.05). The number of CTC in patients was correlated with FIB and D-D levels (P < 0.05). Conclusion: The number of CTC in patients with renal cell carcinoma is correlated with some clinical phenotypes (TNM, lymph node metastasis, distant metastasis) and some coagulation indexes (FIB, D-D), and can jointly predict the prognosis of renal cancer.

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.

Reconstruction using a pedicled upper arm fillet flap after excision of a malignant peripheral nerve sheath tumor: A case report

Non-salvageable extremities have been utilized for harvesting fillet flaps as part of the "spare parts" concept in traumatic and oncologic settings. Here we report on the use of a pedicled fillet flap of the upper arm for chest wall reconstruction after excision of a malignant peripheral nerve sheath tumor in a patient with neurofibromatosis. Pedicled flaps as part of the "spare parts" concept provide the advantage of reduced donor-site morbidity, immediate closure, intact vasculature, and adequate soft tissue coverage of large defects. Malignant peripheral nerve sheath tumor is a rare aggressive tumor with a poor prognosis that may result in large defects post resection. Limited data describes the use of pedicled fillet flaps of the upper extremity. We report the use of a pedicled fillet flap of the upper arm as a viable option that can be successfully used for coverage of soft tissue defects of the shoulder and chest wall post complex resections in an oncologic setting.

Expressions of matrix metalloproteinase-9 and tissue inhibitor of metalloproteinase-1 in malignant peripheral nerve sheath tumor

BACKGROUND： Matrix metalloproteinase-9 （MMP-9） can degrade collagen IV （the main structural ingredient of basilar membrane）, and it also plays an important role in tumor vascularization, tumor cell progression, formation of metastatic focus, etc. Tissue inhibitor of metalloproteinase-1 （T1MP-1） can bind with MMP-9 to form 1 ： 1 compound and inhibit its activity, and can negatively regulate the tumor progression and metastasis. OBJECTIVE： To analyze the relationship of MMP-9 and T1MP-1 expressions with the pathological grade, metastasis and prognosis of malignant peripheral nerve sheath tumor （MPNST）. DESIGN： An observational comparative experiment. SETTING： Heze Medical College. PARTICIPANTS： Fifty-eight surgical pathological samples, which were clearly diagnosed to be MPNST, were collected from the pathological laboratory archives in the Department of Pathology, Heze Municipal Hospital from January 1988 to December 2003. The MPNST pathological types were common tumor in 53 cases, malignant triton tumor in 2 cases, epithelial MPNST in 2 cases and MPNST with gland differentiation in 1 case. The pathological grade was grade 1 in 11 cases, grade 2 in 24 cases and grade 3 in 23 cases. Besides, the resected tumor samples of 20 patients with benign peripheral nerve tumor （10 cases of nerve sheath tumor and 10 cases of neurofibromatosis） and the normal peripheral nerves （by-products of some surgeries） of 5 patients were also collected. The samples were used with the approval of the patients. Rat-anti-human MMP-9, TIMP-1 monoclonal antibody and S-P kit were purchased from Fuzhou Maixin Biotechnology, Co.,Ltd. METHODS： The documented paraffin blocks were again prepared to sections of 5 lJ m. The expressions of MMP-9 and TIMP-1 in the samples were detected with mmunohistochemical S-P method. The relationships of the MPNST severity, recurrence, metastasis and survival rate with the expressions of MMP-9 and TIMP-1 were analyzed. MAIN OUTCOME MEASURES： Relationships of MMP-9 and TIMP-1 expressions with the MPNST severity and prognosis. RESULTS： ①Expressions of MMP-9 and TIMP-1 in three tissues： MMP-9 and TIMP-1 stainings were mainly observed in cytoplasm. Among the 58 MPNST patients, the MMP-9 expression was significantly higher than those in normal peripheral nerve and benign tumor （P 〈 0.05）, while the TIMP-1 expression in MPNST was lower than those in normal peripheral nerve and benign tumor （P 〈 0.05）. ②Relationship of MMP-9 and TIMP-1 expressions with the severity and prognosis of MPNST： The expressions of both proteins were observed in the four subtypes. The positive expression of MMP-9 in the MPNST patients of grades 2 - 3 was significantly higher than that in the MPNST patients of grade 1 （P 〈 0.05）, while the expression of MMP-9 was significantly lower than that in the MPNST patients of grade 1 （P 〈 0.05）. The metastatic rate was positively correlated with MMP-9 expression （r =1.696, P 〈 0.05）, but negatively correlated with TIMP-1 expression （r = - 2.125, P 〈 0.05）. CONCLUSION： MMP-9 and TIMP-1 are associated with MPNST pathological grades and metastasis, and can be used as the indicators for judging the severity and orognosis of MPNST.

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.

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.