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 ...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.展开更多
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 polymer...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.展开更多
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 f...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.展开更多
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-ol...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.展开更多
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 translocat...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.展开更多
文摘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.
文摘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.
文摘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.
文摘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.
文摘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.
