Concurrent delayed recurrence of peripheral primitive neuroectodermal tumors in orbital and sellar/suprasellar regions in an older adult.

BACKGROUND: Peripheral primitive neuroectodermal tumors (pPNETs) are rare and aggressive small round cell tumors, tending to occur in the thoracic and paravertebral soft tissues in children and young adults. This report describes an exceptionally rare case of concurrent delayed recurrence of pPNET in the orbital and sellar/suprasellar regions in an older adult, with a discussion supported by a literature review. CASE PRESENTATION: We report an 82-year-old woman with a history of orbital pPNETs resection at age 62, followed by gamma knife radiosurgery for local recurrence at age 66. She presented left eye pain, left eye protrusion, decreased vision in the right eye, and right homonymous hemianopia. MRI revealed extensive lesions in the left orbital cavity and sellar/suprasellar region, contiguous through the optic canal. The recurrent tumor was treated through a two-stage resection via transcranial and transsphenoidal approaches, which resulted in symptom improvement and a pathologic diagnosis of pPNETs. CONCLUSION: This case highlights a highly rare instance of late-onset orbital pPNETs recurrence in an elderly patient, with evidence suggesting tumor progression into the sellar/suprasellar regions through the optic canal.

Askin's Tumor in the Chest Wall-a Rare Clinical Entity and Review of Literature.

Askin tumors are the rare malignancy of neuroectodermal origin of the thoracic wall. Its prevalence is more in younger age group who present with vague symptoms leading to delayed diagnosis. We hereby present a case report of complex management of large chest wall tumor in a young boy and review the literature of this entity.

Primary intracranial peripheral primitive neuroectodermal tumor: lessons from an exceptionally rare neoplasm. Illustrative case.

BACKGROUND: The primary intracranial peripheral primitive neuroectodermal tumor (pPNET) is a lesion subtype within the Ewing sarcoma family of tumors. pPNETs are extremely uncommon pathologies, accounting for 0.03% of intracranial tumors and 1% to 2% of Ewing sarcoma cases. Given its histological aspect similar to other highly proliferative malignant neuroectodermal neoplasms, pPNET merits extensive workup for accurate diagnosis and treatment. OBSERVATIONS: A 36-year-old male presented to the emergency department with a 1-year history of headaches in the right frontoparietal area, generalized tonic-clonic seizures, and a history of the resection of a tumor labeled as a meningioma 5 years before admission. He was neurologically intact. Brain magnetic resonance imaging revealed a heterogeneous focal lesion of 25 × 35 × 23 mm with a necrotic center and neoformative appearance in the right frontal cortex. The patient underwent multimodal treatment with gross-total resection, radiotherapy, and chemotherapy. Histopathological examination results supported the diagnosis of pPNET. At the 2-year follow-up, the patient had no new-onset symptoms, and brain imaging revealed absent signs of tumor recurrence. LESSONS: The present case describes an extraordinary pPNET case, initially confounded as a clear cell meningioma. Managing pPNET requires thorough investigation, careful differentiation from similar neuroectodermal lesions, and multimodal treatment to improve the patient's prognosis.

Ewing sarcoma with intra thoracic and multiple extra thoracic metastases in a young adult male: A case report.

INTRODUCTION: Primary chest wall tumors arise from muscle, fat, blood vessels, the nerve sheath, cartilage, or bone of the chest wall. One of the chest wall sarcomas is Ewing Sarcoma (ES), first described in 1921 by James Ewing, which is a highly aggressive bone and soft-tissue cancer. This case report aimed to present an Ewing Sarcoma with intra thoracic and multiple extra thoracic metastases in young adult male patient. PRESENTATION OF CASE: We describe a unique case of metastatic of ewing's sarcoma in a 23-year-old male that showed a mass on the right lower posterior lung with pleural effusion, which was initially thought to be lung tumor that metastasized to the pleura. A thoracic CT scan showed a lobulated soft tissue mass on the right posterolateral thoracic wall, or pleura, with an expansion of soft tissue mass on the rib. Thoracal MRI showed tumor in the posterior right lower thoracic wall area, metastases of the left lateral rib, and right pleural effusion with atelectasis in the right inferior lobe of the lung. The patient also underwent a bone scan, scheduled for palliative radiotherapy and chemotherapy, and consulted to oncology surgeon. DISCUSSION: Ewing sarcoma is a small, round, blue-cell mesenchymal malignancy. ES mainly affects children, adolescents, and young adults, with >1.5 cases per million children. Males are slightly more affected than females (sex ratio of 3:2). The definitive diagnosis requires biopsy proof (achieved by fine needle or core biopsy). The most common regions of metastasis are the lungs, pleural cavity, skeletal system, bone marrow, or combinations of these. CONCLUSION: The 5-year survival rate is approximately 70 % when there is no metastasis; this rate falls to around 30 % when metastasis is present.

Extraskeletal Ewing's sarcoma of supraglottis: A rare case report.

Ewing's Sarcoma family of tumors is a group of small round tumor cells. Ewing's sarcoma majority occurs in bone, accounts about 10 % of primary bone tumors. Extraskeletal Ewing's sarcoma (ESS) is unusual and commonly seen in trunk, paravertebral, and chest wall region. It is rarely seen in head and neck region, accounting to 2-3 %. In head and neck region, ESS is seen in nasal or oral cavities, sinuses. EES originating in the larynx is very rare. Here, we report a 22 years old female having the complaints of change in voice and noisy breathing who was diagnosed as a case of EES of supraglottis. As the disease progressed during the time of diagnosis, she had to undergo emergency tracheostomy. The disease was inoperable so she received neoadjuvant chemotherapy followed by radiation followed by adjuvant chemotherapy. At present she is symptomatically better. The aim of this report is to put forward the rare site of Ewing's Sarcoma and highlighting the early diagnosis in suspected case with IHC, providing effective multimodality treatment.

Primary Intracranial Ewing Sarcoma With EWSR1-FLI1 Gene Translocation Mimicking a Meningioma and a Multidisciplinary Therapeutic Approach: A Case Report and Systematic Review of Literatures.

Ewing sarcoma and peripheral primitive neuroectodermal tumor (ES/pPNET) is an undifferentiated malignant tumor that is most prevalent in children and young adults and often radiologically mimics a meningioma. A 38-year-old female patient visited our hospital with complaints of right-sided tinnitus, right hemiparesis, and imbalance. She underwent preoperative imaging and was subsequently diagnosed as having a meningioma on the petrous ridge. After partial resection, EWSR1-FLI1 gene fusion was confirmed, and she was diagnosed with ES/pPNET. The tumor was successfully treated using a multidisciplinary approach of adjuvant chemo- and radiotherapy. This case is noteworthy because it is an extremely rare case of an intracranial ES/pPNET, and it is worth sharing our clinical experience that the tumor was successfully treated through a multidisciplinary therapeutic approach even though complete resection was not achieved.

Askin's Tumor a Rare Clinical Entity of Thoracopulmonary Region Cresenting as a Case of Paraparesis: Findings on 18F-FDG PET/CT.

Askin's tumors are rare malignant neoplasms located in the thoracopulmonary region and mainly occur in children and adolescents. In this report, we describe a case of histologically proven Askin's tumor in a 24-year-old male. The patient was admitted with a history of 3-month lower back pain and with a rare presentation of paraparesis.

Primary intracranial extraosseous Ewing's sarcoma of the skull base in an elderly adult: illustrative case.

BACKGROUND: Primary extraosseous intracranial Ewing's sarcoma, also known as a peripheral primitive neuroectodermal tumor or "small round blue cell tumor," is an extremely rare entity with limited representation in the literature beyond the pediatric population. OBSERVATIONS: A 67-year-old male suffering occipital headache, nausea, and gait disturbance was found to have a large, avidly contrast-enhancing cerebellopontine angle mass extending into the cervical spinal canal with associated mass effect on medulla, cerebellum, fourth ventricle, and cervical spinal cord. This mass was not present on the imaging from 8 years prior. He underwent surgical debulking and pathology results demonstrated a malignant small round cell tumor showing diffuse immunopositivity for cytokeratins, CD99 and NKX2.2 with EWRS1-FLI1 rearrangement in 84% of the nuclei confirmatory of Ewing's sarcoma. After 14 cycles of chemotherapy and 6 weeks of radiotherapy, 22 months after discovery, the patient remains in clinical and radiographic remission with complete return to his baseline functioning. LESSONS: Primary skull base extraosseous Ewing's sarcoma should be considered in the differential diagnosis even in the elderly population when imaging studies demonstrate aggressive tumor growth patterns. Tumor debulking to establish a diagnosis followed by adjuvant chemoradiation therapy can result in clinical improvement with remission.

Primary Ewing's sarcoma (ES)/peripheral primitive neuroectodermal tumor (pPNET) of the tongue in a child: A case report.

Ewing's sarcoma (ES) and primitive neuroectodermal tumor (PNET) are high grade malignant small round cell tumors presenting in both skeletal and extraskeletal anatomic locations. Actually, they are the same entity showing varying degrees of neuroectodermal differentiation. Very few cases of peripheral PNET (pPNET) of the tongue was reported in medical literature. Here, we first report a case of primary extraskeletal ES/pPNET in the tongue of a 9-years old girl. The result of immunohistochemical analysis showed the membranous positive for CD99 and Vimentin. The girl underwent radical surgical treatment and received six cycles of OPEC regimen adjuvantchemotherapy without radiotherapy, and now she is remaining tumor-free survival. The individual comprehensive therapy shows a good curative effect.

Primary Mediastinal Ewing sarcoma presenting as a massive lung lesion with a mediastinal shift.

Primary pulmonary Ewing sarcoma can present as a massive mass in the left hemithorax covering the entire lung and can press the pulmonary artery and cause a significant mediastinal shift.

Primary Spinal Extradural Extraosseous Primitive Neuroectodermal Tumor/Ewing's Sarcoma: A Critical Analysis and Review.

Primary spinal extradural Ewing's sarcoma/primitive neuroectodermal tumor (PNET) is rare malignant tumor of childhood and early adulthood. The World Health Organization classifies PNET as an undifferentiated round cell tumor arising from primitive neuroepithelial cell. It can be central or peripheral PNET depending on site of presentation. Usually, the presenting symptoms are chronic back pain and myelopathy. Overall prognosis and survival are dismal in spite of total surgical resection and adjuvant therapy. Because of the rarity and malignant behavior, definite management of spinal PNET has never been described. After review of medical record at Acharaya Vinoba Bhave Rural Hospital, Sawangi, India, we identified four patients of spinal PNET and were included in our study. Age at diagnosis ranging from 15 to 26 years old with mean age of 20 years old. All four cases were epidural in location, two of which were of Askin type tumor with spinal cord compression. Rural population with low literacy and financial constraints were the key reasons of late presentations at our hospital. Counseling and proper education regarding the disease are a must for early case detection and early treatment of those living in rural areas and suffers from financial constraints. Due to rarity of the disease and its poor prognosis, a well-organized multicentric controlled trial is required to formulate a standard guidelines in the management of this disease.

Congenital Cutaneous Peripheral Primitive Neuroectodermal Tumor (pPNET) of Scalp: Youngest Case So Far.

Congenital cutaneous peripheral primitive neuroectodermal tumor (pPNET) is very rare and also very rarely located in scalp. Only two cases of PNET as primary tumor in scalp are reported so far in the literature. Non mutilating surgical excision, combined with chemotherapy and radiotherapy are used in treating these rare tumors. We present the youngest case report of PNET of scalp in 10-month-old girl who was managed by surgical excision with good cosmetic outcome and disease-free 20 months post-operative period.

Primary intracranial Ewing sarcoma/ peripheral primitive neuroectodermal tumor, an entity of unacquaintance: a series of 8 cases.

PURPOSE: The purpose is to highlight the primary intracranial (meningeal-based) occurrence of Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET). METHODS: This report is a collation of clinicopathological features of eight cases of molecularly and clinicoradiologically confirmed primary (non-metastatic) intracranial (non-osseous) meningeal ES/PNET. RESULTS: The age range was 1 to 33 years with a median age of 9 years. Male to female ratio was 0.6:1. All patients were diagnosed on the debulking surgical material (gross total resection, 2 cases; subtotal resection, 6 cases) and showed primitive embryonal histomorphology with diffuse membranous CD99 immunoexpression and EWSR1 gene rearrangement by fluorescence in situ hybridization. Seven of them showed a typical FISH pattern of split signals with break-apart probe, while one showed an unusual signal pattern of loss of green signals. EFT-2001 adjuvant protocol was followed along with focal radiotherapy (RT) in all cases (except case 8, full course of chemotherapy could not be completed). Two cases had local recurrence-one of them died of disease recurrence before the administration of further treatment. CONCLUSION: This series adds non-osseous intracranial site to the list of uncommon sites of occurrence for ES/PNET and more importantly emphasizes the need to be considered in a differential list of primary intracranial primitive embryonal tumors before embarking as primary central nervous system (CNS) embryonal tumor, NOS.

Primary pulmonary Ewing sarcoma/peripheral primitive neuroectodermal tumor.

Ewing sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) is a malignant small round cell sarcoma commonly occurring among children, adolescents, and adults. We report a rare case of ES/pPNET arising from the lung in a 49-year-old woman. She was found to have a mass in the right lung on a screening imaging study for her BRCA2 mutation. A lobectomy was performed and the mass had histological, immunohistochemical, and molecular features of ES/pPNET. Few cases of primary pulmonary Ewing sarcoma have been reported.

Primary Intracranial Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor Mimicking Meningioma: A Case Report and Literature Review.

Background: Primary intracranial Ewing sarcoma (ES)/peripheral primitive neuroectodermal tumors (pPNETs) are extremely rare malignancies, which arise in children and adolescents, with only 9 cases reported in patients over 30 years of age. Due to its rarity, MRI features and treatment strategies for primary intracranial ES/pPNETs remain unclear. The purpose of this study was to explore the clinical features, imaging findings, pathological characteristics, different diagnoses, treatment, and prognosis of cerebellar liponeurocytoma in adults. Case Description: A 55-year-old female was admitted to the hospital with memory decline over 1 month, which aggravated in the last 2 weeks. MRI showed a 4.3 × 6.5 × 3.5 cm heterogeneous large mass in the left frontal lobe with mild peritumoral edema. The mass was successfully removed under neuronavigation and electrophysiological monitoring. The entire mass was removed, and postoperative pathology indicated an ES pPNET diagnosis, with an EWSR1 gene rearrangement. Subsequently, the patient underwent disciplinary radiotherapy. Conclusion: The diagnosis of primary intracranial ES/pPNETs depends on the comprehensive consideration of histological examination, immunohistochemical analysis, and genetic detection. Gross tumor resection combined with radiotherapy and chemotherapy might be the most beneficial treatment.

Intracranial Ewing Sarcoma - A case report.

BACKGROUND: Intracranial Ewing's sarcoma (ES) is a rare entity with <15 cases reported in the literature. It belongs to a family of round-cell neuroectodermally derived tumors bearing many similarities to peripheral primitive neuroectodermal tumor (pPNET). There is currently no established treatment protocol. Reported cases are treated with either surgery alone or surgery with adjuvant chemotherapy and radiation. CASE DESCRIPTION: We describe a case of intracranial left frontal ES in a 19-year-old patient who presented with change in behavior. Diagnosis was unclear based on radiological findings on MRI and CT alone. MRI brain with contrast demonstrated a large extra-axial ovoid heterogeneously enhancing left frontal convexity mass. The patient underwent gross total resection with adjuvant chemotherapy and radiation. No local or systemic recurrence was found at 12 months postoperatively. CONCLUSION: Intracranial ES/pPNET is rare tumor with nonspecific clinical presentation and radiological findings. They are locally invasive. Surgery with adjuvant chemoradiation is the mainstay treatment. Distinction of pPNET and cPNET is important for therapeutic and prognostic purposes.

Primary Spinal Epidural Extraosseous Ewing's Sarcoma with Brachial Plexus Infiltration.

The Ewing's sarcoma family of tumors are aggressive malignant small round blue cell tumors of undifferentiated mesenchymal origin. Skeletal Ewing's sarcoma is a common entity that classically involves the diaphysis of the long bones, pelvis, ribs, and sacrum. Extraosseous Ewing's sarcoma (EES) is rare, most commonly presenting as a paravertebral mass lesion. Its manifestation as an anterior epidural mass lesion with extension along brachial plexus is an even rarer phenomenon. A 25-year-old male presented with neck stiffness and progressive weakness of the bilateral upper and lower limbs. Magnetic resonance imaging of the cervical spine revealed an anterior epidural mass lesion compressing the cervical cord and extending along the right brachial plexus, suggesting imaging differentials of EES and lymphoma. The patient underwent laminectomy with gross tumor resection, and histopathology confirmed a diagnosis of EES. EES should be kept in the differential diagnosis of anterior epidural mass lesions in young adults, specifically when the lesion shows extension along multiple neural foramina and nerve plexus.

Ewing's Sarcoma of the Sinonasal Tract: A Report of Two Challenging Cases.

Ewing's sarcoma (ES) is a malignant small round cell tumor that belongs to the primitive neuroectodermal tumor class. ES generally arises in the long bones of the extremities (skeletal form) and less frequently in the soft tissue of the trunk and extremities (extra-skeletal form). Sinonasal localization of ES is an extremely rare event. About 80% of the patients are less than 20 years old with the highest incidence in the second decade of life. The combination of histopathological examination and ancillary methods (such as immunohistochemistry and molecular genetics) is extremely important to establish the diagnosis of ES. The most effective treatment plan for ES includes a multidisciplinary approach with surgery, radiotherapy and chemotherapy. This is a report of two challenging cases of sinonasal ES in two different age groups. The first case is a 13-years old female patient who presented with right nasal obstruction, anosmia, intermittent epistaxis and hearing loss. The second case is a 24-years old male patient who presented with a history of right nasal obstruction, right eye pain and periorbital edema. We present these cases due to the rarity of the disease and the difficulty of diagnosis.

Retroperitoneal extraosseous peripheral primitive neuroectodermal tumor in a Formosan serow: case report and literature review.

A 10-y-old female captive Formosan serow (Capricornis swinhoei) was inactive and was azotemic. An autopsy was performed following her death, and multiple irregularly shaped, white-to-gray masses of 0.5-2 cm diameter were noted on both ureters, the left adrenal gland, urinary bladder, and uterus. Microscopically, organs were effaced by a poorly demarcated, highly infiltrative neoplasm, composed of neoplastic round cells arranged in islands, sheets, or nests with occasional rosette formation. The neoplastic cells were small: ≤2 red blood cell (≤ 15 µm) diameter. The neoplastic cells were positive for CD56, CK, FLI-1, and NSE, but negative for desmin, GFAP, melan A, NF, PAX-8, S100, synaptophysin, and vimentin. Therefore, the diagnosis of retroperitoneal extraosseous peripheral primitive neuroectodermal tumor (pPNET) was made. pPNET with FLI-1 expression has not been reported previously in animals, to our knowledge.

Extraskeletal Ewing's sarcoma/peripheral primitive neuroectodermal tumor of the small bowel presenting with gastrointestinal perforation.

Extraskeletal Ewing's sarcoma (E-EWS)/peripheral primitive neuroectodermal tumor (pPNET) is a rare soft tissue tumor that arises from a multipotent progenitor cell and is considered to be of neuroectodermal origin. Although soft tissue E-EWS/pPNETs are common, they are exceedingly rare in the small bowel. Only 30 cases of E-EWS/pPNET of the small bowel have been reported. However, only one case of gastrointestinal perforation has been reported till today. Here, we report the second case of E- EWS/pPNET with gastrointestinal perforation.