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We report an uncommon case of primitive neuroectodermal tumor/ Ewing's sarcoma of the lumbar and sacral nerve plexus in a 17years old boy who presented with an intense pain in the lower back radiating to legs. Magnetic resonance imaging showed a soft tissue mass with thickening of lumbar and sacral spinal nerve roots (L5-S3 level), along with widening of the corresponding foramina. There was also posterior scalloping of L5/S1 vertebrae and invasion of the sacral bone. A Partial resection has been performed, and the ensuing histopathology confirmed the diagnosis of PNET/Ewing's sarcoma. MRI in conjunction with histopathology are the key to narrow down the differential diagnoses list. PNET of lumbosacral area remain scarce, and only few cases have been reported nowadays. Given to the aggressivity of these tumors, the prognosis is poor despite appropriate treatment.

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Embryonic-type neuroectodermal tumor (ENT) is a somatic-type malignancy characterized by overgrowth of embryonic-type neuroectodermal tissue (EtNT). In germ cell tumors, EtNT is frequently intermingled with other components that may exhibit significant morphologic overlap [mature neuro-glial tissue (MNGT), nephroblastomatous tissues, and primitive endodermal-type glands]. Therefore, the quantification of EtNT (crucial for the diagnosis of ENT) can be challenging. In this study, we investigated the immunohistochemical profile of ENT, EtNT, and MNGT using a broad immunohistochemical panel. We found that SOX2 was the most sensitive marker for EtNT (100%), but it also stained MNGT (28.6%). GFAP and S100 were relatively sensitive (71.4%) and highly specific (GFAP 100%, S100 85.8%) for MNGT, whereas synaptophysin stained both. Combining our results with those of previous studies, we propose that a combination of SOX11, SOX2, GFAP, S100, AFP, villin, CDX2, PAX8, and nuclear WT1 may help to identify and quantify EtNT in germ cell tumors.

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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.

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PURPOSE: Schwannoma is a rare mesenchymal tumor. In this study, we analyzed clinicopathologically 99 schwannomas.This retrospective study delves into the clinical, pathological, and immunohistochemical dimensions of abdominal schwannomas. RESULTS: A cohort of 99 cases, comprising 4 malignant and 95 benign schwannomas, was meticulously examined. Clinical analysis revealed a notable gender distribution (1:1.7, male to female) and an average age of 58.5 years. The majority of cases were asymptomatic. A cohort of 99 cases, comprising 4 malignant and 95 benign schwannomas, was meticulously examined. Clinical analysis revealed a notable gender distribution (1:1.7, male to female) and an average age of 58.5 years. The majority of cases were asymptomatic. Tumor sizes ranged from 0.5 to 30 cm, with distinct locations in the stomach for most benign cases and the abdomen/small intestine for malignancies. Initial misdiagnoses were frequent. Pathological evaluations revealed distinct features, including Antoni A and B patterns, spindle cells, and lymphatic sheath structures in benign schwannomas. Malignant cases exhibited atypical cells, ulcers, and invasive growth. Immunohistochemical markers, such as S100, SOX10, and vimentin, consistently demonstrated positivity by contributing to accurate diagnoses. Treatment outcomes indicated a poor prognosis in malignant cases, with overall survival ranging from 10 to 41 months. Conversely, benign cases displayed no recurrence or metastasis during follow-up, despite atypical behaviors. CONCLUSION: This study underscores the rarity of abdominal schwannomas and underscores the need for a comprehensive diagnostic morphology and immunohistochemistry. SOX10 emerges as a crucial and specific marker for accurate diagnosis. Further research is imperative to refine diagnostic protocols and enhance our understanding of the clinical behavior of abdominal schwannomas.

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INTRODUCTION: Children ≤5 years of age with Ewing's sarcoma (ES) possibly have a distinct disease biology, data on which are scarce. We evaluated clinical features, outcomes, and prognostic factors of ES among children with age ≤5 years. METHODS: Children with ES registered between 2003 and 2019 were included. Baseline clinical and treatment details were retrieved from medical records. Prognostic factors were identified using multivariable Cox regression. Clinical features and outcomes of children ≤5 years were compared with those greater than 5 years by chi-square and log-rank tests. Propensity score-matched (PSM) analysis was done to evaluate the impact of age on survival in the metastatic and localized subgroups. RESULTS: Out of the 859 patients, 86 (10%) were ≤5 years of age (median age 4 years, 60 males [69.8%]). The most common location was the extremities (37.2%), followed by thorax (27.9%) and head and neck (H&N) (22.1%); baseline metastases were seen in 25 patients (29.8%). The median event-free-survival (EFS) and overall survival (OS) were 25.6 and 68.7 months, respectively. Metastatic disease predicted inferior OS (hazard ratio [HR] = 2.54, p = .018) and EFS (HR = 2.47, p = .007], symptom duration ≤3 months predicted an inferior OS (HR = 2.17, p = .048). Compared to age greater than 5 years, younger children had more H&N and less pelvic primaries (p < .001) and lesser baseline metastases (p = .037). PSM analysis did not reveal any significant impact of age on OS in the metastatic (HR = 1.59, p = .29) or localized cohort (HR = 1.77, p = .09). CONCLUSIONS: Children with ES ≤5 years of age have a distinct favorable clinical presentation. However, age is not an independent prognostic factor for survival outcomes when adjusted for confounders.

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Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET) is a type of malignancy that usually appears as a tumor in the bone. However, in a few patients with ES/PNET, it can occur outside of the bone. Although extraosseous ES/PNET can appear in various parts of the body, involvement of small bowel is rare. If it does, it can present with vague abdominal pain and gastrointestinal bleeding. This case report presents a 28-year-old gentleman with extraosseous ES/PNET in the duodenum who experienced gastrointestinal bleeding as a presenting symptom.

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Renal primitive neuroectodermal tumor(rPNET) is an extremely rare and distinct entity that can be mistaken for a variety of other round cell tumors. Findings from fine needle aspiration cytology have been reported, but there have been no reports of PNET cytomorphological features in urine cytology specimen. Here, we report a case of PNET characterized by urine cytology. A 24-year-old girl presented with hematuria for half a month. Computed tomography showed a large tumor involving the upper pole of the right kidney. Urinary cytology exhibited highly cellular clusters composed of small, round, atypical cells with little cytoplasm and a high nuclear/cytoplasmic ratio. Following a right nephrectomy, the biopsy confirmed the diagnosis of rPNET. Additionally, immunohistochemistry (IHC) staining of the decolorized liquid-based cytology slide was positive for CD99, further confirming the diagnosis through urine cytology. Our observations suggest that urinary cytology in combination with cytological morphology and immunocytochemistry may be a potentially useful method for the detection of PNET.

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Ewing sarcoma (ES) and primitive neuroectodermal tumor (PNET) belong to the group of neoplasms called small round cell tumors. PNETs have been divided into central and peripheral. ES and peripheral PNETs arise from bones, soft tissues, or peripheral nerves. We present a case of hepatic ES/PNET in a healthy man that began four months before consultation with abdominal symptoms and weight loss. Upper gastrointestinal endoscopy and laboratory tests revealed no notable findings. The abdominal tomography revealed an enlarged liver due to a solid lesion that involved all its segments with intravenous contrast enhancement and large areas of necrosis. It compressed and displaced neighboring structures. Core needle biopsy of the liver lesion was performed: small round cell neoplasm. Immunohistochemistry revealed negativity for CD45, CKA1/A3, chromogranin, synaptophysin, and cytokeratins CK7 and CK20. Dim CD56 expression and CD99, FLI-1, and NKX2 positivity. He underwent chemotherapy treatment with carboplatin and etoposide for 6 cycles with clinical improvement and tolerance. Control images showed reduction of the mass with involvement of the right hepatic lobe, involvement of the inferior vena cava, infiltration of the right adrenal gland and upper pole of the right kidney. He was referred to hepatobiliary surgery for surgical resection of the residual lesion. The patient rejected the proposed surgical procedure. Our objective is to highlight the clinical and histological diagnostic challenge of this entity that requires ruling out other clinical entities.

El sarcoma de Ewing (ES) y el tumor neuroectodérmico primitivo (PNET) pertenecen al grupo de neoplasias denominadas tumores de células pequeñas y redondas. Los PNET se dividen en centrales y periféricos. El ES y los PNET periféricos surgen del tejido óseo, de los tejidos blandos o nervios periféricos. Presentamos un caso de ES/PNET hepático en un hombre sano que inició cuatro meses antes de la consulta con síntomas abdominales y pérdida de peso. La endoscopia digestiva alta y la analítica no revelaron hallazgos relevantes. En la tomografía de abdomen se evidenció hígado aumentado de tamaño a expensas de lesión sólida que comprometía todos sus segmentos con realce al contraste endovenoso y grandes áreas de necrosis. Comprimía y desplazaba estructuras vecinas. Se realizó biopsia con aguja gruesa de la lesión hepática: neoplasia de células pequeñas y redondas. La inmunohistoquímica reveló negatividad para CD45, CKA1/A3, cromogranina, sinaptofisina y citoqueratinas CK7 y CK20. Expresión tenue de CD56 y positividad de CD99, FLI-1 y NKX2. Realizó tratamiento quimioterápico con carboplatino y etopósido por 6 ciclos con mejoría clínica y tolerancia al mismo. En imágenes de control se evidenció reducción de la masa con afección del lóbulo hepático derecho, compromiso de la vena cava inferior, infiltración de la glándula suprarrenal y polo superior del riñón derechos. Se remitió a cirugía hepatobiliar para resección quirúrgica de la lesión residual. El paciente rechazó el procedimiento quirúrgico. Nuestro objetivo es destacar el desafío diagnóstico clínico e histológico de esta entidad que obliga a descartar otras entidades clínicas.

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A malignant gastrointestinal neuroectodermal tumor (GNET) is a rare entity, characterized as a malignant mesenchymal neoplasm occurring exclusively near the gastrointestinal tract, prone to frequent local recurrence and metastasis. Here, we report a case of a 49-year-old male presented with abdominal pain and weight loss. The patient had a remote history of thymic B-cell lymphoma. An abdominal computed tomography (CT) scan revealed a focal wall thickening of the terminal ileum with mesenteric lymphadenopathy, suggestive of lymphoma. A core needle biopsy of the mesenteric node was inconclusive. A right hemicolectomy was subsequently performed. Histologically, abundant multinucleated osteoclast-like giant cells are present. The tumor cells show diffuse strong positivity for S100 and SOX10. EWSR1-ATF1 gene fusion was identified by fluorescence in situ hybridization (FISH), consistent with a diagnosis of GNET. This case emphasizes a diagnostic challenge of a rare malignancy.

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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.

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A rare case of melanotic neuroectodermal tumor of infancy (MNTI) occurring in a 3-month-old male child affecting the left maxilla is described. Computed tomography showed the benign expansile type of lesion affecting the left maxilla. The lesion was surgically excised completely. Histopathology confirmed the diagnosis of melanotic neuroectodermal tumor. Almost 6 months of follow-up showed no recurrence. How to cite this article: Patankar SA, Pawar SR, Sharma R, et al. A Rare Melanotic Neuroectodermal Tumor of Infancy in a 3-month-old Child: A Case Report. Int J Clin Pediatr Dent 2024;17(1):79-81.

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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.

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A 13-month-old, neutered, male, domestic shorthair cat was referred with a history of progressive paraparesis, proprioceptive ataxia, and lumbar spinal pain. Neurological examination revealed non-ambulatory paraparesis consistent with L4-S1 myelopathy. Magnetic resonance of the thoracolumbar spinal cord identified a dorsal intradural extramedullary space-occupying lesion extending from L5 to L6. It was homogeneously hyperintense in T2-weighted imaging and isointense in T1-weighted imaging and exhibited marked and homogeneous contrast enhancement in the T1-weighted post-contrast imaging. The removed tissue was composed of neoplastic cells arranged as pseudostratified or multilayered trabecular and tubular structures, supported by internal and external limiting PAS-positive membranes. The neoplastic cells were immunoreactive for vimentin and NSE and negative for GFAP, Olig2, synaptophysin, PCK, S-100, NeuN, and nestin. The Ki-67 nuclear labeling index was up to 90%. The tumor was consistent with the diagnosis of medulloepithelioma, which is most frequently reported as an intraocular tumor. The morphological and immunohistochemical features of the tumor showed remarkable concordance with most human medulloepitheliomas. This is the first spinal cord medullopethelioma report in a cat, with the clinical, neuroradiological, histological, and immunohistochemical findings being described.

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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.

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Melanotic neuroectodermal tumor of infancy is a rare and usually benign neoplasm occurring in children of young age. This pigmented tumor typically presents in the head and neck region, but other locations may be involved. We report in this article a rare case of a 3-month-old girl presenting with a slowly growing mass localized in the anterior fontanelle. The patient's magnetic resonance imaging (MRI) showed a mass extending both extracranial and intracranial, and compressing the adjacent structures. The patient underwent subtotal resection of the mass and a histological study confirmed the diagnosis of melanotic neuroectodermal tumor of infancy. The patient presented later on with a recurrence. An early diagnosis and surgical management for these tumors remain the only guarantees to limit the progression and prevent their recurrence and metastasis.

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Melanotic neuroectodermal tumor of infancy (MNTI) is an uncommon pigmented neural crest tumor primarily found in infants. We presented a case report of successful surgical management of MNTI in an 11-month-old female. A total of 178 articles discussing 249 cases of MNTI were identified through literature search. Literature review of 250 cases of MNTI including the current case report was conducted considering study parameters such as age and gender of the patient, location of the lesion, levels of vanillylmandelic acid, management options, and outcome after treatment. Statistical review of the data showed that MNTI predominantly affects the anterior maxilla in infants less than six months of age. Recurrence of the lesion shows a significant association with age of the individual and treatment method employed. This study reports a 2.4% mortality rate, 2% malignancy rate, and a recurrence rate of 15.2%, with recurrence times ranging from 15 days to 20 months. We advocate a minimum follow-up of four months to two years to monitor recurrence.

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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.

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Melanotic neuroectodermal tumor of infancy (MNTI) is a rare benign neoplasm that can be mistaken for malignancies due to its unfamiliarity among clinicians and aggressive clinical appearance. We herein contributed by reporting an additional case of MNTI characterized by an extensive extraoral protrusion in a 2-month-old infant. The lesion involved the anterior maxilla, cheek, and infraorbital region, resulting the displacement of the nose to the contralateral side, and measuring approximately 10 cm in size. Surgical resection of the lesion was performed. After a 6-month follow-up, the patient has shown no evidence of recurrence. The rapid growth and aggressive behavior of MNTI emphasize the importance of an early diagnosis and prompt intervention in order to achieve favorable outcomes.

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El tumor neuroectodérmico maligno del tracto gastrointestinal es una neoplasia rara con pocos casos reportados en la literatura, especialmente en América Latina. Descrito por primera vez en 2003, se trata de una entidad sin tratamiento estandarizado y de pobre pronóstico. Se presenta el caso de una paciente de 22 años de edad que acude a la consulta por dolor abdominal, anemia y masa abdominal palpable. Luego de estudios pertinentes se decide la conducta resectiva y el posterior tratamiento oncológico. (AU)

Malignant gastrointestinal neuroectodermal tumor (GNET), formerly known as clear cell sarcoma of the gastrointestinal tract, is an extremely rare tumor of mesenchymal origin, which presents great microscopic and molecular similarity to clear cell sarcoma found in other parts of the body, such as tendons and aponeurosis. It is characterized by its rapid evolution, high recurrence rate and frequent diagnosis as metastatic disease.1,2 (AU)

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Ewing sarcoma (ES) of the spine is a rare childhood cancer with sparse literature on treatment outcomes. We aimed to describe survival outcomes and prognostic factors in patients with spinal ES treated at a single institute in a resource-challenged setting. We conducted a retrospective analysis of patients with spinal ES registered at a tertiary care oncology center between 2003-2019. Clinical patient data was retrieved from hospital records. Cox regression analysis was used to identify the association of baseline clinical parameters with event free survival (EFS) and overall survival (OS). A cohort of 85 patients was analyzed including 38 (45%) patients with metastatic disease. The median age was 15 years with 73% being male. Local therapy was administered in 62 (72.9%) patients with surgery alone in 8 (9.4%), radiotherapy alone in 36 (42.4%) and both in 18 (21.2%) patients. A higher proportion of males received local therapy than females (80.3% versus 59.1%; p = 0.049). The median EFS and OS were 20.1 and 28.6 months, respectively. On univariable analysis, age ≤ 15 years, female sex, serum albumin ≤3.5 g/dL and hemoglobin ≤11 g/dL were associated with inferior EFS while younger age, female sex, hypoalbuminemia and metastatic disease were associated with inferior OS. On multivariable analysis, only hypoalbuminemia was predictive for inferior EFS (HR:2.41; p = 0.005) while hypoalbuminemia (HR:2.06;p = 0.033) and female sex (HR:1.83; p = 0.046) were associated with inferior OS. We concluded that hypoalbuminemia confers poor prognosis in ES spine. Survival outcomes are poorer in females treated in our setting, possibly due to prevailing sex-based biases.

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