[Ewing sarcoma/primitive hepatic neuroectodermal tumor]. / Sarcoma de Ewing/tumor neuroectodérmico primitivo hepático.

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.

Adamantinoma-like ewing sarcoma arising in the pancreatic tail: a case report of a rare entity and review of the literature.

ALES is a rare subtype that demonstrates the EWSR1-FLI1 translocation characteristic of ES and demonstrates complex epithelial differentiation including diffuse cytokeratin and p40 expression. It has predominantly recognized in the head and neck and is common in middle-aged population. This case is the first case of ALES reported in the pancreatic tail, sharing some morphological characteristics with ALES in the head and neck, including monotonous cytology, infiltrative growth pattern, and complex epithelioid differentiation, but ALES in the head and neck often has high-grade histological features (e.g., necrosis, high mitotic rate, etc.), and sudden keratinization can also occur, but these features were not reflected in this primary pancreatic tail ALES. Although ALES arising in the pancreatic tail and in the head and neck sites share the immunohistochemical and molecular profile, our case can provide new ideas in differential diagnosis of ALES arising in pancreatic tail and promote increased recognition and understanding of ALES.

Conventional and advanced MR imaging findings of primary Ewing sarcoma of the tentorium: a case report with literature review.

BACKGROUND: Primary intracranial Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET) is an extremely uncommon tumor. Care should be taken as it can be mistaken for a meningioma radiologically. CASE DESCRIPTION: This paper reports a case of a 44-year-old male presenting with headache. A magnetic resonance imaging demonstrated a mass involving the tentorium, cerebrum and cerebellum with solid-cystic component. The solid component was hyperintense on T1-weighted images with significant enhancement. There was restriction in diffusion-weighted images and microhemorrhagic signal change in susceptibility weighted images. MR perfusion revealed increased relative cerebral blood volume and mean transit time values. Surgical pathology was reported as ES. CONCLUSIONS: Intracranial ES/pPNET is a rare tumor that generally arises from the meninges. It must be distinguished from meningioma since it can be mistaken radiologically, because the treatment and prognosis are quite different. Localization and conventional MR signal characteristics of both lesions are similar. Whereas, MR perfusion findings may be helpful in discrimination.

A rare case report of renal ewing sarcoma/primitive neuroectodermal tumor with ACTH production.

BACKGROUND: Ewing sarcoma/primitive neuroectodermal tumor (PNET) of the renal is extremely rare. The common cause of ectopic ACTH syndrome is pulmonary neuroendocrine tumors, such as small cell carcinomas and carcinoid tumors. Here, we present an unusual case of ectopic ACTH syndrome and hypothyroidism caused by Ewing sarcoma/PNET of the right kidney. CASE PRESENTATION: A 19-year-old girl presented with a history of right lumbar pain and discomfort for 2 months, aggravated for 2 days. Abdominal contrast-enhanced computed tomography and computed tomography angiography showed an upper pole occupancy of the right kidney occupancy with subepithelial hemorrhage. Preoperative hormone levels including plasma total cortisol (PTC), adrenocorticotrophic hormone (ACTH) and thyroid hormone measurements were abnormal, indicating that the patient had Cushing syndrome and hypothyroidism. The patient underwent right radical nephrectomy. Histopathological analysis revealed a renal small round blue cell tumor (consistent with a primitive neuroectodermal tumor), with positive immunohistochemistry for CD99 and Ki67 (about 10%) and molecular pathology for EWSR1 gene fusions. PTC, ACTH and thyroid hormone returned to normal after surgery. CONCLUSIONS: We report a rare ectopic ACTH syndrome and hypothyroidism due to renal Ewing sarcoma/PNET. The clinical manifestation of renal Ewing sarcoma/PNET is non-specific and the diagnosis relies on pathological morphology, immunohistochemistry and fusion gene detection. At present, surgery combined with radiotherapy and chemotherapy is used in the treatment, but the prognosis is still not optimistic.

Primitive Neuroectodermal Tumour of Subcutaneous Tissue Presenting as a Shoulder Lump: A Case Report.

Primitive neuroectodermal tumour is a poorly differentiated small round cell neoplasm that primarily affects children and is very rarely seen in adults. Peripheral primitive neuroectodermal tumours are rare compared to the central type and resemble soft tissue sarcoma. Primitive neuroectodermal tumours involving the subcutaneous tissue are rare and only a few cases involving the subcutaneous tissue of the anterior abdominal wall have been reported. However, no cases involving the subcutaneous tissue of the shoulder region have been reported. We report the case of a peripheral primitive neuroectodermal tumour arising from subcutaneous tissue of the right shoulder in a young adult. Keywords: case report; magnetic resonance imaging; neuroectodermal tumour; neuron-specific enolase; subcutaneous tissue.

[Cervical Primary Ewing's Sarcoma:Report of One Case].

Ewing's sarcoma in the cervix is characterized by extremely rare occurrence,high degree of malignancy,and rapid progression.The diagnosis of this disease is based on pathology and immunohistochemistry. The main image of the case reported in this paper showed the cervical cyst with solid mass,large volume,and uneven density and signal,and the solid part can be strengthened in enhanced scanning.Because of the rapid growth,the lesion is prone to liquefaction necrosis and bleeding.Since the metastasis occurs early,timely diagnosis is essential.

Primary Ewing sarcoma of the kidney: A series of four cases.

INTRODUCTION: Ewing sarcoma (ES), the neuroectodermal derived tumour typically occurs in the bone and soft tissue of children and young adults. Primary ES of the kidney is strikingly rare and only a few cases and small case series have been documented. Due to the highly aggressive nature of this neoplasm, distinction from other morphological mimickers is truly indispensable in terms of treatment and prognosis. Here we describe the clinicopathological features of four cases of primary ES of the kidney with special emphasis on one case having extensive neural differentiation postneo- adjuvant chemotherapy (NACT). Extensive neural differentiation in renal ES has not been documented to date. CASE SERIES: Four patients (age range from 15-35 years) had kidney mass and multiple distant metastases at first presentation. Primary diagnosis of Ewing sarcoma was rendered by histopathology with the help of immunohistochemistry on core biopsy material. Tumour cells in all cases showed diffuse membranous CD99, nuclear FLI-1 and NKX2.2. Two of the patients had undergone radical nephrectomy followed by combination chemotherapy. Another two patients were first treated with neo-adjuvant chemotherapy (NACT) followed by radical nephrectomy. In one of them, histopathological examination of nephrectomy specimens revealed extensive neural differentiation. The adrenal gland was free in all four cases. The follow-up period was 12 -24 months. Three patients had survived and one of them became disease-free. CONCLUSION: Primary ES of the kidney is a rare and lethal entity. Due to overwhelming rarity, chemotherapy protocol has not been standardised and followed as ES in bone/soft tissue. Histopathological confirmation and prompt initiation of treatment may improve patient survival and outcome.

Ewing sarcoma arising in colon and ovary--Two rare sites of presentation.

Ewing sarcoma is a rare aggressive malignant round cell tumor, primarily presenting in bone and soft tissues. This study presents two cases of this tumor in unusual locations, one in right colon which presented with intussusception and other in ovary which presented clinically as carcinoma ovary. Both the cases showed histomorphology of primitive round cell tumor with characteristic immunohistochemical profile and was confirmed on molecular analysis. We aim to highlight the importance of considering Ewing sarcoma in the differential diagnoses in these locations as they have dismal prognosis with no standard treatment modality.

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.

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.

Peripheral primitive neuroectodermal tumor: a case report.

BACKGROUND: Primitive neuroectodermal tumors are extremely rare and highly aggressive malignant small round cell tumors that arise from the primitive nerve cells of the nervous system or outside it. These tumors share similar histology, immunohistologic characteristics, and cytogenetics with Ewing's sarcoma. Peripheral primitive neuroectodermal tumors of the chest wall are rare malignant tumors seen in children and young adults. CASE PRESENTATION: We report a rare case of peripheral primitive neuroectodermal tumor in a 4-year-old Albanian girl with a mediastinal tumor and an unusual clinical presentation. She was initially treated for acute polyradiculoneuritis (Guillain-Barré syndrome) owing to pain, weakness in the lower limbs, and walking difficulty, as well as severe irritability. During the second week of treatment, the child began to experience dry cough, chest discomfort, and worsening dyspnea. Chest radiography, chest computed tomography, and contrast-enhanced computed tomography demonstrated a large mass in the right hemithorax that was derived from the posterior mediastinum with expansive growth in all directions and that shifted the mediastinal structures in the anterolateral left direction. Consequently, histopathology and immunohistochemical examination of the markers S-100, CD99, and Ki-67 showed that the tumor cells stained positively for S-100 and CD99. The proliferative index measured by Ki-67 was approximately 20%, which suggested primitive neuroectodermal tumor. CONCLUSIONS: Even though other diseases, including leukemia, lymphoma, and neuroblastoma, may be accompanied by musculoskeletal manifestations in children, other solid tumors, such as peripheral primitive neuroectodermal tumors, should be considered in the differential diagnosis in any child presenting with musculoskeletal symptoms.

Primary and metastatic primitive neuroectodermal tumor of the heart: A systematic review.

OBJECTIVE: Primary and metastatic primitive neuroectodermal tumors of the pericardium are uncommon. Two cases are presented and discussed. METHODS: The cases of a 17- and 38-year-old male patients with neuroectodermal tumors of the pericardium are presented. In addition, a systematic review was performed according to the Preferred Reporting Items and checklist for Systematic reviews and Meta-Analyses (PRISMA). All selected articles' quality assessment was done using the Joanna Briggs Institute (JBI) Critical Appraisal Checklist for Case Reports. RESULTS: The systematic review yielded 29 patients with primary or metastatic PNET. Two patients underwent cardiac transplantation. It seems that unlike considering total resection in other organs, pericardiectomy in PNET patients with pericardial origin may lead to further invasion of the lesions, and it is not recommended. The average disease-free follow-up was 10 months. The combination of neoadjuvant and adjuvant chemotherapy along with surgery and radiotherapy offered the best disease-free outcomes. CONCLUSION: Neuroectodermal heart tumors are rare, aggressive tumors requiring chemotherapy and radiotherapy in association with tumor resection surgery to have the best disease-free duration.

Ovarian Primitive Neuroectodermal Tumor: Are You Central or Peripheral?

Primitive neuroectodermal tumors (PNETs) of the ovary are rare, highly aggressive neoplasms with fewer than 100 cases described. PNETs of the ovary can be classified as either peripheral or central types. The peripheral PNETs have small round cells with or without rosette formation, and the central PNETs can be further delineated based on the CNS tumor they morphologically resemble. We present a case of a central type ovarian PNET in a young female presenting with a pelvic mass and elevated serum tumor markers.

Somatic-type Malignancies in Testicular Germ Cell Tumors: A Clinicopathologic Study of 63 Cases.

The development of somatic-type malignancies (SMs) in testicular germ cell tumors (GCTs) is a rare but well-recognized phenomenon. We studied the pathologic features of 63 GCTs with SMs in the testis (n=22) or metastases (n=41) and correlated these features with clinical outcomes. The patients with SMs in the testis (median age, 26 y) were younger than those with metastatic SMs (median age, 38.5 y). The SMs consisted of carcinomas (n=21), sarcomas (n=21), primitive neuroectodermal tumors (n=15), nephroblastomas (n=3), and mixed tumors (n=3). Sarcoma was the most common SM in the testis (n=11), and most sarcomas were rhabdomyosarcomas (n=9). Carcinoma was the most common SM in metastases (n=20), and most carcinomas were adenocarcinomas (n=12). In metastases, carcinomatous SMs developed after a longer interval from the initial orchiectomy (median times, 213 mo) than sarcomatous SMs (median times, 68 mo). Patients with metastatic SMs had significantly poorer overall survival than those with SMs in the testis (5-y survival rate, 35% vs. 87%; P=0.011). Furthermore, patients with carcinomatous SMs had a significantly worse prognosis than those with sarcomatous or primitive neuroectodermal tumor SMs (5-y survival rates, 17%, 77%, and 73%, respectively; P=0.002), when the whole cohort, including testicular and metastatic SMs, were analyzed. Our results demonstrate that SMs in metastatic GCTs are associated with a significantly worse prognosis than those in the testis. Furthermore, the histologic subtype of SM has a significant effect on the clinical outcome, with the carcinomatous SM carrying the highest risk for mortality.

Cervical Primary Ewing's Sarcoma:Report of One Case / 中国医学科学院学报

Ewing's sarcoma in the cervix is characterized by extremely rare occurrence,high degree of malignancy,and rapid progression.The diagnosis of this disease is based on pathology and immunohistochemistry. The main image of the case reported in this paper showed the cervical cyst with solid mass,large volume,and uneven density and signal,and the solid part can be strengthened in enhanced scanning.Because of the rapid growth,the lesion is prone to liquefaction necrosis and bleeding.Since the metastasis occurs early,timely diagnosis is essential.

Primitive neuroectodermal tumor of the pericardium: a case report and literature review.

BACKGROUND: The primitive neuroectodermal tumors (PNETs) are a family of highly malignant tumors with a multidirectional differential potential. The tumors are characterized by aggressive small round tumor cells that originate from the spinal cord of the central and sympathetic nervous systems. Cases involving the pericardium are extremely rare. Herein, we present a case of peripheral primitive neuroectodermal tumor (pPNET) that originated in the pericardium. CASE PRESENTATION: A 23-year-old woman presented with cough and progressive dyspnea for 1 month, followed by eyelid and facial edema for 10 days, without any apparent cause. Significantly elevated tumor markers were detected in her blood. A cardiac ultrasound revealed a 74 mm × 61 mm spherical mass that was attached to the left pericardium, as well as massive pericardial effusion. Positron emission tomography-CT (PET-CT) showed focal hypermetabolism in the left pericardium. Via histopathology and immunohistochemistry, the spherical mass was identified as PNETS. The patient was successfully treated with a combination of surgical resection via thoracotomy and postoperative chemotherapy, and she was disease-free for 7 years at follow-up. Unfortunately, at 7 years after the treatment, the patient's pPNET recurred. Positron emission tomography-MRI (PET-MRI) and 64-slice coronary CTA revealed that the aorta and multiple coronary arteries were involved. Subsequently, the patient refused a heart transplant and voluntarily left the hospital. CONCLUSIONS: This paper reports on a rare and recurrent case of PNET in the parietal pericardium. With respect to the different biologic characteristics and prognoses of pPNETs (compared to other known pericardium tumors), it is essential to consider this entity as a differential diagnosis in pericardium tumors.

Features of a rare peripheral primitive neuroectodermal tumour arising from the thoracic spine in a juvenile canine patient.

Peripheral primitive neuroectodermal tumours are rare tumours in juveniles. The current patient was a paraplegic 8-month-old Scottish deerhound with a suspected pulmonary mass. Radiographically, there was a large extrapleural mass within the mid-left hemithorax. On MRI, the mass was mainly hyperintense on T2-weighted images, isointense on T1-weighted images and was heterogeneously strongly contrast enhancing with a multilobulated appearance, spinal cord compression, paraspinal musculature invasion and intrathoracic extension. Those changes were confirmed on post-mortem, and the mass diagnosed based on immunohistochemistry.

Primary uterine Ewing sarcoma - A case report.

OBJECTIVE: Ewing sarcoma is a type of neuroectodermal tumors (Ewing family of tumors-EFT) that mostly affect the bone or soft tissue. Primary uterine Ewing sarcoma is extremely rare. CASE REPORT: We report a case of a primary uterine Ewing sarcoma in a 46-year-old patient, treated with total abdominal hysterectomy, and bilateral salpingo-oophorectomy and following adjuvant chemotherapy with 6 cycles of vincristine, doxorubicin, and cyclophosphamide, achieving complete remission for one year. CONCLUSION: Complete resection for EFT is the first choice of treatment, regardless of their origins. Adjuvant chemotherapy or radiotherapy is mandatory if needed. Due to rarity of the disease, this report re-emphasizes the accurate diagnosis and appropriate treatment for these unusual tumor types occurred in female genital organs.