Primitive neuroectodermal tumor of the cervix diagnosed during pregnancy: a rare case report with discussion.

BACKGROUND: Primitive neuroectodermal tumor (PNET) is a relatively rare malignant small round cell tumor, and the occurrence of cervical PNET during pregnancy is extremely rare. CASE PRESENTATION: A case of pregnancy complicated by PNET at our hospital was reported. A 19-year-old pregnant woman presented to the hospital due to multiple instances of vaginal bleeding during the first and second trimesters. She was initially considered for threatened abortion but was ultimately diagnosed with cervical PNET. No standard treatment plan has been developed for pregnant women with this tumor. After completing the necessary examinations, doctors cooperated with the patient and her family to develop a surgical treatment plan. The patient recovered well after surgery, but she refused radiotherapy and chemotherapy. After nearly 3 years of follow-up visits, the patient is alive with no signs of recurrence. CONCLUSIONS: PNET during pregnancy is a rare but complex condition. It is necessary to devise an individualized treatment plan according to gestational age. Timely surgical treatment can significantly prolong the survival time of patients but may also lead to fetal loss and the inability to carry a pregnancy.

Imaging features of medulloepithelioma: report of four cases and review of the literature.

BACKGROUND: Intraocular medulloepithelioma is a childhood tumor arising from the nonpigmented primitive ciliary neuroepithelium. Although rarer than retinoblastoma, it remains the second most common primary intraocular neoplasm in children. The rarity of intraocular medulloepithelioma creates the challenge in establishing a clinical diagnosis, and radiologically the tumor is often confused with other intraocular masses. OBJECTIVE: To describe the clinical, imaging and pathological features of intraocular medulloepithelioma with emphasis on the role of imaging to enable its differentiation from more common intraocular pathology. MATERIALS AND METHODS: We retrospectively analyzed the clinical, histopathological and imaging data of four children with intraocular medulloepithelioma. RESULTS: All four children had medulloepithelioma arising from the ciliary body. The children were imaged with US (n = 3), MRI (n = 4), whole-body (99m)Tc-MDP scintigraphy (n = 2) and CT (n = 1). All four children had enucleation of the involved eye. One tumor was a malignant teratoid variant, two tumors were malignant nonteratoid variants and one was a nonteratoid variant of uncertain malignant potential. None of the tumors had extraocular extension on histopathology or imaging. Two children had associated retinal detachment on US and MRI examinations. All tumors were iso/hyperintense to vitreous on T1-weighted and hypointense on T2-weighted MRI and showed marked contrast enhancement of the solid components. No calcifications were identified on US or CT examinations. CONCLUSION: Our findings are consistent with previously reported cases of medulloepithelioma. This series emphasizes the roles of various imaging modalities, with pathological correlation, in differentiating the tumor from other ciliary body masses, in detecting tumor extension and in identifying associated ocular complications. In this series we also describe the results of postsurgical follow-up for tumor recurrence.

Primary extraosseous intradural spinal Ewing's sarcoma: report of two cases.

Two cases of primary extraosseous intradural spinal Ewing's sarcoma are reported with a review of the current literature. This rare neoplasm shares features with cerebral primitive neuroectodermal tumors, complicating a correct diagnosis. Gross total resection seems to be the main treatment, although adjuvant therapies could improve the prognosis. In case 1, a 56-year-old man presented with cauda equina syndrome. MRI showed an intradural tumor from L4 to S2. An emergency laminectomy was performed with gross total resection of a hemorrhagic tumor, followed by adjuvant treatment. In the second case, a 25-year-old female developed leg and lumbar pain. MRI study identified a homogeneously enhancing intradural mass at the L2-L3 level. A laminoplasty was performed, followed by tumor resection; no adjuvant treatment was administered afterwards. Immunohistochemical workup confirmed the diagnosis of Ewing's sarcoma in both cases.

Primary spinal peripheral primitive neuroectodermal tumour: a report of 3 cases and review of the literature.

Peripheral primitive neuroectodermal tumours (PNETs) are rare and highly malignant tumours in the spine, with a predilection for young adults. There are no standard guidelines for treating these tumours. Surgical resection combined with postoperative radiotherapy and chemotherapy is a common and effective treatment at present. Even so, survival time of patients with these tumours is still very short. In this study, we present three rare cases of thoracic epidural PNETs and review the literature.

A rare case of pediatric primary central nervous system differentiating neuroblastoma: an unusual and rare intracranial primitive neuroectodermal tumor (a case report).

Neuroblastoma represents the most common solid extracranial tumor in children under 5, accounting for 8% to 10% of all childhood cancers. Primary central nervous system (CNS) neuroblastomas are a very rare location and only few cases are available in the literature. It was first described in 1973 by Hart and Earl as supratentorial primitive neuroectodermal tumors. Clinical presentation is highly variable and depends on the initial location of the tumor. Regarding imaging, primary brain neuroblastoma shows no pathognomonic appearance on brain computed tomography (CT) whether or not enhanced or magnetic resonance imaging (MRI). There were no standard guidelines available for the adjuvant treatment in case of primary CNS neuroblastoma. Surgery remains the main and the first tool toward these lesions. Radiotherapy associated or not to chemotherapy is offered based on patient´s age. Here, the authors report a new pediatric case of primitive central nervous system neuroblastoma revealed by an intracranial hypertension syndrome and confirmed by both histopathological and immunohistochemistry study after a gross total surgical excision. The postoperative course was uneventful and the child had good recovery.

Primary spinal primitive neuroectodermal tumor: A single center series with literature review.

Context: Primary spinal primitive neuroectodermal tumor (PNET) of the central nervous system has a low incidence. The intraspinal case is very rare. Around 30 cases have been reported so far. We summarized the cases of primary spinal PNET available in the database of our institute, either intramedullary or extramedullary cases. Then we did literature review of the same disease. Findings: There were eight cases of primary spinal PNET available in our database, with one intramedullary case and seven extramedullary cases. Surgical resection was performed. The histology diagnosis was PNET. Peri-operative image examinations of the whole central nervous system (CNS) were performed to exclude tumors other than spinal cord origin. Then during literature review, 33 reports of the disease were included. The pre-operative diagnosis rate was low. The disease had a high recurrence rate and poor prognosis given available treatment. Conclusion: Primary spinal primitive neuroectodermal tumor is of high malignancy. Little is known due to its quite low incidence. The prognosis is poor due to lacking of effective treatment strategy. Present treatment strategy is referred to other common CNS malignancies like glioma. Further investigation of the disease is necessary.

Primitive neuroectodermal tumor of urinary bladder: A case report and literature review.

RATIONALE: Primitive neuroectodermal tumor (PNET) of the urinary bladder is a highly aggressive tumor with high local recurrence and distant metastasis rates in cases of incomplete excision. We report a case of a young female patient, in whom early laparoscopic radical cystectomy combined with standard lymph node dissection and a modified vincristine, doxorubicin hydrochloride, and cyclophosphamide (VAC) chemotherapy regimen was controversial. Because PNET of the urinary bladder is a rare malignancy, the standard treatment regimen has not yet been established. It is not clear whether surgery combined with postoperative chemotherapy for PNET patients may be superior to surgery alone on long term survival. PATIENT CONCERNS: The patient was a 45-year-old Chinese woman who complained of lower urinary tract symptoms, including urgency, frequency, and difficulty in urination, for 2 months. DIAGNOSES: PNET. INTERVENTIONS: The patient underwent laparoscopic radical cystectomy and standard lymph node dissection, combined with modified VAC chemotherapy regimens. OUTCOMES: After undergoing radical surgery in 2018, the patient completed 6 courses of adjuvant chemotherapy. Abdominal and thorax computed tomography scanning was performed 3, 6, 9, and 12 months after the surgery was completely free of tumor. The patient is still alive with no signs of recurrent disease 2 years after diagnosis. LESSONS: Radical surgery and standard lymphadenectomy combined with adjuvant chemotherapy may be essential to improve the prognosis of PNET of the urinary bladder.

Occipital interhemispheric approach without excision of tentorium for the tumor in the medial temporal region: technical note.

BACKGROUND: An occipital interhemispheric approach for the lesions in the middle part of the medial temporal region has been reported. However, this approach usually requires the excision of the tentorium to provide satisfactory exposure. In this case, we used this approach without the excision of the tentorium to remove the parahippocampal gyrus tumor, which was located superolateral to tentorial edge in the middle part of the medial temporal region. CASE DESCRIPTION: A 22-year-old man who had seizures for 3 years presented with a tumor in the right parahippocampal gyrus. The tumor was successfully removed by the occipital interhemispheric approach without the excision of the tentorium. The postoperative course was uneventful. CONCLUSIONS: An occipital interhemispheric approach without the excision of tentorium is a feasible and safe approach for parahippocampal tumors superolateral to tentorial edge, even in a case where the tumor is deeply located in the middle part of medial temporal region.

First Case of Primary Sellar/Suprasellar-Intraventricular Ewing Sarcoma: Case Report and Review of the Literature.

BACKGROUND: Intracranial Ewing sarcoma (ES) and peripheral primitive neuroectodermal tumors (pPNETs) are extremely rare and poorly differentiated neoplasms. Immunohistochemical and cytogenetic findings support the possibility of a unique nosologic entity. Primary intracranial localization of this tumor is extremely rare; a few cases are reported in the literature, with only some confirmed by genetic studies. CASE DESCRIPTION: We report a 12-year-old patient with a sellar/suprasellar mass with intraventricular extension that in all its features mimicked a transinfundibular craniopharyngioma. The patient underwent complete resection of the lesion via an endoscopic endonasal transtuberculum approach 6 days after ventriculoperitoneal shunt for acute obstructive hydrocephalus. Histopathologic and genetic examination demonstrated ES/pPNET. The diagnosis was confirmed by detection of a rearrangement of the EWSR1 gene by fluorescent in situ hybridization and identification of the diagnostic t(11;22) translocation by reverse transcriptase polymerase chain reaction. The patient remained in complete clinical remission 12 months after tumor resection followed by adjuvant chemotherapy with no radiologic evidence of tumor recurrence. CONCLUSIONS: To our knowledge, this is the first case of primary intrasellar/suprasellar-intraventricular ES/pPNET confirmed by molecular genetic analysis. Extensive investigations, including pathologic, immunohistochemical, and genetic studies, are needed for differentiation of these tumors from other, more common sellar/suprasellar tumors. Our case highlights that an interdisciplinary therapeutic approach is mandatory to guarantee a favorable outcome.

[Lens subluxation as a sign of medulloepithelioma in 13 years boy--case report]. / Podwichniecie soczewki jako objaw nabloniaka rdzeniowego (medulloepithelioma) u 13-letniego chlopca--opis przypadku.

The paper presents the case of the 13 years old boy with the deterioration of vision acuity of the right eye, caused by lens subluxation. The condition was caused by tumour of ciliary body. Additional tests: USG, UBM, CT did not resolve diagnostic doubts. After the biopsy medulloephitelioma was diagnosed and the decision of the eye enucleation was made. Histopathological examination confirmed the diagnosis.

Primary primitive neuroectodermal tumor within the spinal epidural space: report of a case and review of the literature.

Primary intraspinal primitive neuroectodermal tumors (PNETs) are rare tumors and a have poor prognosis. In reviews of the literature, it is seen that primary intraspinal PNETs may arise at all levels of the spine and may be intramedullary, intradural-extramedullary, or epidural. Spinal epidural location of PNET is extremely rare and out of 22 cases of primary spinal PNETs reported to date, only two were epidural. Tumors within the epidural space of the spinal canal are most often metastatic neoplasms from different primary sites. Here we report a case of primary extradural PNET located in the thoracic spine in a 16-year-old boy and review the relevant literature.

Pigmented malignant medulloepithelioma of the ciliary body.

Medulloepitheliomas are usually amelanotic. Pigmented medulloepitheliomas are unusual and only two cases have been reported. We report an additional case of pigmented malignant medulloepithelioma of the ciliary body with histopathologic correlation.

[Primitive neuroectodermal tumor of the vagus nerve]. / Tumeur neuroectodermique primitive du nerf vague.

Primitive neuroectodermal tumors are a rare type of malignant neuroectodermal tumor that is very aggressive. Cervicofacial location is rare, even exceptional. We report a case of a 4-month-old male infant, referred from the pediatric clinic for severe supralaryngeal dyspnea, a firm mass under the left mandibular angle, mobile and extended to the parotid area, painful, with a curve of the left side wall of the oropharynx. Cervical computed tomodensitometry showed a well-limited mass in the carotid area, enhanced by the contrast product. A vascularized mass, which had developed at the expense of the vagus nerve, was removed surgically. Histology found a primitive neuroectodermal tumor.

Treatment of a supratentorial primitive neuroectodermal tumor using magnetic resonance-guided laser-induced thermal therapy.

Supratentorial primitive neuroectodermal tumors (PNETs) are rare tumors that carry a poorer prognosis than those arising from the infratentorial compartment (such as medulloblastoma). The overall prognosis for these patients depends on several factors including the extent of resection, age at diagnosis, CSF dissemination, and site in the supratentorial space. The authors present the first case of a patient with a newly diagnosed supratentorial PNET in which cytoreduction was achieved with MR-guided laser-induced thermal therapy. A 10-year-old girl presented with left-sided facial weakness and a large right thalamic mass extending into the right midbrain. The diagnosis of supratentorial PNET was made after stereotactic biopsy. Therapeutic options for this lesion were limited because of the risks of postoperative neurological deficits with resection. The patient underwent MR-guided laser-induced thermal ablation of her tumor. Under real-time MR thermometry, thermal energy was delivered to the tumor at a core temperature of 90°C for a total of 960 seconds. The patient underwent follow-up MR imaging at regular intervals to evaluate the tumor response to the thermal ablation procedure. Initial postoperative scans showed an increase in the size of the lesion as well as the amount of the associated edema. Both the size of the lesion and the edema stabilized by 1 week and then decreased below preablation levels at the 3-month postsurgical follow-up. There was a slight increase in the size of the lesion and associated edema at the 6-month follow-up scan, presumably due to concomitant radiation she received as part of her postoperative care. The patient tolerated the procedure well and has had resolution of her symptoms since surgery. Further study is needed to assess the role of laser-induced thermal therapy for the treatment of intracranial tumors. As such, it is a promising tool in the neurosurgical armamentarium. Postoperative imaging has shown no evidence of definitive recurrence at the 6-month follow-up period, but longer-term follow-up is required to assess for late recurrence.

[Surgical pathology of epilepsy]. / Patología quirúrgica de la epilepsia.

INTRODUCTION: The surgical treatment of refractory epilepsy represents a large step forward in the quality of life and survival of many patients, particularly for those whose pathology is located in the temporal lobe. AIM: To concentrate the basic histological aspects of an extremely varied, although generally little known, genuinely neural pathology into one single review work. DEVELOPMENT: The causes of refractory epilepsy with a genuinely neurohistological foundation can be either malformative or neoplastic. The former include cortical dysplasias and hippocampal sclerosis, while the latter involve the so-called glioneuronal tumours (dysembryoplastic neuroepithelial tumour, ganglioglioma) and some glial cell-related tumours. CONCLUSIONS: There is a group of disorders that are intrinsic to cerebral development and primary brain tumours which are closely related to epilepsy. Surgery applied to these processes cures epilepsy in a high percentage of cases that are resistant to pharmacological treatment.

Precocious puberty because of a pancreatic neuroectodermal tumor.

Primitive neuroectodermal tumors (PNETs) are uncommon, representing approximately 1% of all sarcomas. Pancreatic PNETs have been reported only 12 times in the literature. This report presents the first case of a patient with a PNET exhibiting precocious puberty. The clinical presentation, surgical management, and pathology of this rare pancreatic PNET found in a 2-year-old girl with precocious puberty are discussed.