Sarcoma de Ewing congênito: relato de um caso / Congenital Ewing's sarcoma: a case report

O sarcoma congênito da família Ewing é uma doença extremamente rara, que se manifesta através do surgimento de uma massa e sinais sistêmicos como dor e febre. Cerca de 70 a 80% dos casos ocorrem antes dos 20 anos de idade. Histologicamente se caracteriza pela presença de pequenas células arredondadas e azuis. Além disso, pode se manifestar em tecidos moles ou osso e em qualquer parte do corpo, sendo a forma congênita mais comumente encontrada nas extremidades. O diagnóstico é estabelecido através de exames de imagem, histopatologia e imuno-histoquímica. Esses tumores costumam ser agressivos e apresentar elevada mortalidade. Aqui, relatamos o caso de um recém-nascido que apresentou uma massa no membro superior esquerdo diagnosticada como sarcoma congênito da família Ewing por biópsia cutânea por punch e pela presença do marcador CD99 (AU)

Congenital Ewing's sarcoma is an extremely rare disease, manifested by the appearance of a mass and systemic signs such as pain and fever. About 70-80% of cases occur before 20 years of age. This condition is histologically characterized by the presence of small round blue cells and can manifest in bone or soft tissue, anywhere in the body, with the congenital form being the most commonly found in the extremities. The diagnosis is established by imaging, histopathology, and immunohistochemistry. These tumors tend to be aggressive and have high mortality rates. Here, we report the case of a newborn who presented a mass in the left upper limb diagnosed as congenital Ewing's sarcoma by punch skin biopsy and the presence of the CD99 marker (AU)

Congenital Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor: A Case Report and Review of the Literature.

Ewing's sarcoma (EWS) and peripheral primitive neuroectodermal tumor (pPNET) are small round cell malignancies that develop in soft tissue and bone. They very rarely affect newborns. A diagnosis of EWS/pPNET depends mainly on immunohistochemistry and molecular/genetic assays. Since these tumors are highly aggressive, patient prognosis is typically very poor, and treatment remains a challenge. Here, we report a 13-day-old newborn diagnosed with congenital EWS/pPNET and describe its treatment.

Congenital peripheral primitive neuroectodermal tumor: a case treated successfully with multimodality treatment.

Neonatal tumors comprise less than two percent of childhood malignancies. Most are solid tumors, most common histologies being teratoma and neuroblastoma. We encountered a child who was detected to have a right arm mass on antenatal sonogram, which was diagnosed to be a primitive neuroectodermal tumor involving the triceps on fine needle aspiration cytology performed in the post-natal period. The child was successfully treated with multimodality treatment consisting of surgery, chemotherapy and radiotherapy. We also discuss briefly the problems associated with therapy in neonatal period. A review of all cases reported to have congenital Ewing's sarcoma family of tumors is presented. Novel therapies are needed to improve efficacy and decrease the devastating side effects of treatment in this age group.

A rare case of congenital Ewing sarcoma/PNET of the scapula.

Ewing sarcoma (ES)/primitive neuroectodermal tumors (PNET) are known to occur at both central and peripheral locations, as well as at skeletal and extraskeletal sites. They most commonly occur in the first 2 decades of life. We report a rare case of congenital Ewing sarcoma/primitive neuroectodermal tumor arising from the scapula.

A case of congenital peripheral primitive neuroectodermal tumor presenting with multiple metastases.

The report describes a case of a newborn with a huge congenital abdominal peripheral primitive neuroectodermal tumor, with peritoneal dissemination and cutaneous involvement, and discusses literature data. Peripheral primitive neuroectodermal tumor is an exceedingly uncommon tumor in this age group and is characterized by very aggressive behavior and poor prognosis.

Congenital peripheral primitive neuroectodermal tumor refractory to treatment.

The authors report an unusual case of an infant presenting with a congenital peripheral primitive neuroectodermal tumor (PPNET) of the left hand refractory to treatment. A newborn girl was born with a large bluish-red mass of 4.5 cm diameter protruding into the palm and the dorsum of the left hand. Tumor biopsy confirmed the diagnosis of PPNET. The initial metastatic workup for the detection of metastases was negative. Four cycles of chemotherapy according to CCSG 7881/POG 8850 regimen B were given. Despite this aggressive chemotherapy the tumor grew to involve the entire left hand. The left hand was amputated, and then two cycles of topotecan/cyclophosphamide were given. Five months later extensive metastases developed, involving the brain, lungs, liver, and skeleton, and the child died at the age of 2.5 years. PPNET presenting at birth is uncommon; presentation in the hand is unusual, and the fact that it did not respond to treatment is still more uncommon.

Congenital neuroepithelioma in an infant hand.

We describe a congenital peripheral neuroepithelioma of the hand in an infant aged 6 weeks. This primitive malignant tumour of neuroepithelial origin is extremely rare in neonates. Peripheral neuroepitheliomas of the hand have not been described in the literature previously. Specific diagnosis and the current therapeutic approaches are discussed.

Establishment and characterization of a cell line of congenital primitive neuroectodermal tumor of soft tissue.

A new human cell line, termed Muraoka, has been established from the recurrent tumor of a case of congenital primitive neuroectodermal tumor (PNET) arising at the temporofacial region of a male infant. The microscopic findings of this cell line were epithelioid, and the xenografted tumor in a nude mouse consisted of the malignant epithelioid cells. Immunohistochemically, the cells were positive for neuron-specific enolase, S-100 protein, carcinoembryonic antigen, cytokeratin, epithelial membrane antigen, and glial fibrillary acidic protein. These findings were quite similar to those of the epithelioid cells in the original tumor and of the xenografted tumor cells. Neither chromosomal abnormalities nor N-myc amplification were observed. Morphological differentiation after treatment with N6-2'-O-dibutyryladenosine 3':5'-cyclic monophosphate (Bt2-cAMP), all-trans-retinoic acid (RA), prostaglandin E1 (PGE1), and 5-bromo-2'-deoxyuridine (BrdU) showed two different results. Bt2-cAMP and PGE1 induced neuronal differentiation with the extension of neurites, whereas RA and BrdU predominantly induced Schwannian differentiation (flat cells). In these respects, the cell line Muraoka seems to be useful for studying characteristics of PNET as well as for developing the new treatments against such tumors.

Congenital primitive neuroectodermal tumor with epithelial and glial differentiation. An ultrastructural and immunohistochemical study.

A congenital primitive neuroectodermal tumor associated with epithelial and glial elements is described. This soft-tissue tumor present on the right temple of a newborn boy consisted mainly of small round cells of the primitive neuroepithelial type, occasionally forming rosettes. The other components were focal glandular structures producing mucin, and aggregates of epithelioid cells bearing clear cytoplasm, both being distributed throughout the entire tumor. Additional glandular and clear cell components were strongly positive for various epithelial markers, such as carcinoembryonic antigen, epithelial membrane antigen, and cytokeratin. Epithelioid cells were also positive for neuron-specific enolase and S100 protein. Glial differentiation was evidenced in some of the epithelioid cells by localization of cytoplasmic glial fibrillary acidic protein. These findings suggest that this tumor derives from a remnant of a neural crest, and the possibility of a special type of peripheral primitive neuroectodermal tumor is considered.

Congenital primitive neuroectodermal tumor (neuroepithelioma) of the chest wall.

Primitive neuroectodermal tumor (neuroepithelioma) is a relatively common central nervous system tumor in children. Those arising from a peripheral nerve are extremely rare in childhood. There is only one reported case in 6-year-old where the tumor arose from the sciatic nerve. A case of neuroectodermal tumor of the chest wall, arising from the intercostal nerve, in a newborn is presented. The tumor metastasized to the brain. Prominent Homer-Wright rosettes, with central eosinophilic fibrillar substance similar to that seen in neuroepithelioma of the central nervous system, were present in the primary tumor and brain metastases. Ultrastructure, as revealed by transmission electron microscopy, is also described.