Primary Ewing sarcoma/peripheral primitive neuroectodermal tumors in the cranial bone and mobile spine: what is the difference?

Background Primary Ewing sarcoma (ES)/peripheral primitive neuroectodermal tumors (pPNETs) are aggressive bone tumors that rarely occur in the axial skeleton, including the cranial bone and mobile spine. The purpose of this study was to investigate whether there were any differences in patient characteristics, treatment strategies, and outcomes between patients with ES/pPNETs of the cranial bone and those with ES/pPNETs of the mobile spine. Methods A retrospective study was performed on 33 patients with ES/pPNETs who had been surgically treated and pathologically confirmed at our institution between 2010 and 2020. Patient characteristics were compared using Fisher exact tests or independent t tests. Survival rates were estimated via Kaplan–Meier survival analysis and compared using log-rank tests. Results Thirteen patients had ES/pPNETs of the cranial bone (39.4%), while 20 patients had ES/pPNETs of the mobile spine (60.6%). Patients with ES/pPNETs of the cranial bone had a younger mean age (14.8 vs 22.6 years; p = 0.047) and longer mean disease duration (2.5 vs 1.9 months; p = 0.008) compared with those of patients with ES/pPNETs of the mobile spine. Kaplan–Meier analysis showed that gross total resection (GTR) and radiotherapy resulted in a longer median survival time. The overall survival rates and progression-free survival rates of patients with ES/pPNETs of the cranial bone versus those of the mobile spine were not significantly different (p = 0.386 and p = 0.368, respectively). Conclusions Patients with ES/pPNETs of the cranial bone were younger compared to patients with ES/pPNETs of the mobile spine. There was no significant difference in the prognosis of patients with ES/pPNETs of the cranial bone versus those of the mobile spine. Taken together, our findings suggest that GTR and radiotherapy offer the best prognosis for improved long-term survival.

Primary intracranial peripheral primitive neuroectodermal tumor in an adult patient with aphasia: a rare case report

Primary intracranial primitive neuroectodermal tumors (PNETs) are extremely rare malignancies, affects children and adolescents with only 10 cases has been reported over 33 years old. we present a case of PNET in a 36 years old female patient with the chief complaint of aphasia for the first time

Glioblastoma multiform with primitive neuronal component, radiological and histology features: a case report

Background Glioblastoma multiform with primitive neuronal component (GBM-PNC) has been recently defined as a rare variant of glioblastoma multiform (GBM), which shows characteristically pathological pattern of less differentiated areas with small blue cell morphology and neuroectodermic immunophenotype. New studies emphasize its characteristics and differences, which have become vitally important due to the changes in therapeutic management. Case presentation We present the case of 57-year-old male patient who onset symptoms were secondarily widespread partial seizures and expression aphasia. Brain magnetic resonance imaging (MRI) reported left enhanced temporal infiltrating lesion, requiring surgery twice throughout two years. At first surgery, pathological samples revealed embryonic tumor of the central nervous system (grade IV, WHO 2016), so PACKER protocol consisting of CSRT (craniospinal radiation) plus weekly vincristine followed by 8 cycles of cisplatin, lomustine and vincristine usually used for medulloblastomas or other primitive neuroectodermal tumors was started. However, due to reappearance of symptoms and progression in MRI, reoperation was performed with definitive diagnosis of GBM-PNC (Grade IV, WHO 2016) and switched to STUPP protocol. Conclusions It is important to take into account the chance of this entity when histological, radiological and intraoperative findings orient toward a primitive neural tumor since the presence of GBM could be overlooked leading to mistakes in diagnosis and the therapeutic orientation.

Primitive Neuroectodermal Tumor of Axilla in an Adult: A Rare Entity

Primitive neuroectodermal tumors (PNETs) are poorly differentiated small round cell neoplasms which mainly affect children and are not commonly seen in adults. Superficial primitive neuroectodermal tumors are rare and have a favourable prognosis compared to conventional deep seated tumors. We report a case of a 62 year old gentleman with a primitive neuroectodermal tumor arising from the subcutaneous tissue of the right axilla. He was treated with multimodal treatment including surgery and radiotherapy. He is alive and disease free at 2 year follow up.

Primitive Neuroectodermal Tumor of Axilla in an Adult: A Rare Entity

Primitive neuroectodermal tumors (PNETs) are poorly differentiated small round cell neoplasms which mainly affect children and are not commonly seen in adults. Superficial primitive neuroectodermal tumors are rare and have a favourable prognosis compared to conventional deep seated tumors. We report a case of a 62 year old gentleman with a primitive neuroectodermal tumor arising from the subcutaneous tissue of the right axilla. He was treated with multimodal treatment including surgery and radiotherapy. He is alive and disease free at 2 year follow up

Salvage Radiosurgery for Recurrent Supratentorial Primitive Neuroectodermal Tumors: A Single Institutional Series and Review of the Literature

<b><i>Introduction:</i></b> Supratentorial primitive neuroectodermal tumor is a rare, aggressive intrinsic brain tumor with limited treatment options for recurrent disease. SRS as a treatment modality in the recurrent setting was investigated. <b><i>Methods:</i></b> A retrospective review of 8 patients treated with SRS for local or distant recurrence of supratentorial PNET from 1999 to 2014 was conducted. <b><i>Results:</i></b> Thirty-six tumors were treated in 15 sessions in 8 patients. The median patient age was 22.5 (interquartile range [IQR], 14.75–43.5 years) with a median 21-month period from diagnosis until SRS (IQR, 16–23.75 months). The median prescription isodose volume was 1.85 cm³ (IQR, 1.85–7.02 cm³); median tumor margin dose was 18 Gy (IQR 14–20 Gy); and median isocenters was 2 (range 1–13). No patients experienced adverse radiation effects. All but 1 patient died, and the median overall survival was 32 months (IQR, 26.75–53.5 months) with median overall survival following SRS of 9.5 months (IQR, 5.25–30 months). Univariate analysis failed to demonstrate a statistically significant association between age, number of gamma knife treatments, interval to gamma knife, and margin radiation dose with overall survival. <b><i>Discussion/Conclusion:</i></b> This series supports the use of SRS in patients with recurrent supratentorial PNET following multimodal therapy.

Analysis of Clinical, Imaging, and Pathologic Features of 36 Patients with Primary Intraspinal Primitive Neuroectodermal Tumors: A Case Series and Literature Review

Background and Study Aims Primary intraspinal primitive neuroectodermal tumors (PNETs) account for ∼0.4% of all intraspinal tumors, but information about these tumors in the medical literature is limited to single case reports. We report four cases of primary intraspinal PNETs and present a systematic literature review of the reported cases. Materials and Methods We retrospectively reviewed and analyzed the clinical data of 4 patients with primary intraspinal PNETs who underwent neurosurgical treatment at our clinic between January 2013 and January 2020, and of 32 cases reported in the literature. Results The female-to-male ratio was 2.6:1. The mean patient age was 21.42 ± 15.76 years (range: 1–60 years), and patients <36 years of age accounted for 83.30% of the study cohort. Progressive limb weakness and numbness were the chief symptoms (accounting for ∼55.6%). The mean complaint duration was 0.89 ± 0.66 months for males and 2.72 ± 3.82 months for females (p = 0.028). Epidural (41.7%) was the most common site, and thoracic (47.3%) was the most frequent location. Most PNETs were peripheral, and magnetic resonance imaging (MRI) appearance was isointense or mildly hypointense on T1-weighted images and hyperintense on T2-weighted images. Homogeneous contrast enhancement was observed. The 1-year survival rate of patients who underwent chemoradiation after total or subtotal lesion resection was better compared with patients who did not undergo chemotherapy, radiotherapy, or total or subtotal resection. The modality of treatment was associated with survival time (p = 0.007). Conclusion Primary intraspinal PNETs mainly occur in young people with a female preponderance. In patients with a rapid loss of lower limb muscle strength and large intraspinal lesions on MRI, PNETs should be considered. Surgical resection and adjuvant radio chemotherapy are key prognostic factors.

Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation

Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly malignant neoplasms posing diagnostic challenge due to a lack of defining molecular markers. CNS neuroblastoma with forkhead box R2 (FOXR2) activation (CNS_NBL) emerged as a distinct pediatric brain tumor entity from a pool previously diagnosed as primitive neuroectodermal tumors of the central nervous system (CNS-PNETs). Current standard of identifying CNS_NBL relies on molecular analysis. We set out to establish immunohistochemical markers allowing safely distinguishing CNS_NBL from morphological mimics. To this aim we analyzed a series of 84 brain tumors institutionally diagnosed as CNS-PNET. As expected, epigenetic analysis revealed different methylation groups corresponding to the (1) CNS-NBL (24%), (2) glioblastoma IDH wild-type subclass H3.3 G34 (26%), (3) glioblastoma IDH wild-type subclass MYCN (21%) and (4) ependymoma with RELA_C11orf95 fusion (29%) entities. Transcriptome analysis of this series revealed a set of differentially expressed genes distinguishing CNS_NBL from its mimics. Based on RNA-sequencing data we established SOX10 and ANKRD55 expression as genes discriminating CNS_NBL from other tumors exhibiting CNS-PNET. Immunohistochemical detection of combined expression of SOX10 and ANKRD55 clearly identifies CNS_NBL discriminating them to other hemispheric CNS neoplasms harboring “PNET-like” microscopic appearance. Owing the rarity of CNS_NBL, a confirmation of the elaborated diagnostic IHC algorithm will be necessary in prospective patient series.

Congenital primary primitive neuroectodermal tumor of the orbit in a newborn

Introduction: Primitive neuroectodermal tumors arise from the progenitor cells of the neural crest, in the central nervous system or other peripheral locations. Case presentation: We report a rare case of a congenital malignant tumor, diagnosed as a primary orbital primitive neuroectodermal tumor on histopathological examination. Conclusion: Multidisciplinary management with adjuvant chemotherapy needed for the management of these cases.