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)

Response to chemotherapy estimates by FDG PET is an important prognostic factor in patients with Ewing sarcoma

Background. Response to chemotherapy is a prognostic factor in patients with Ewing sarcoma (ES); the role of FDG PET to predict response in these patients has not been thoroughly investigated. We evaluated the diagnostic accuracy and the potential of FDG PET to predict response to chemotherapy (CHT). Materials and methods. e analyzed data of 50 patients with ES (median age 12.6 years). All patients were treated with neoadjuvant CHT, and underwent surgery for local control. All patients had 18F-FDG PET/CT at diagnosis and after induction CHT, prior to local control. We compared response assessed by histopathology with FDG PET using standard uptake values (SUVs). Results. Median SUV at diagnosis (SUV I) was 5 (range 1.2-17), and median SUV after neoadjuvant chemotherapy (SUV II) was 1.8 (range 0-8.4). Median SUV II/I ratio was 0.3 (range 0-1). SUV at diagnosis was significantly lower in patients with good histological response than in patients with poor histological response (median 3.8 vs. 7.2, p 0.02). We found a significant correlation between SUV II and outcome; the positive predictive value of an SUV II ≤ 2.5 for favorable response was 84.21 %, and the median SUV II was significantly higher in patients with disease progression (2.3 vs. 1.6, p = 0.04). In multivariate analysis, necrosis and SUV II were significant predictors of outcome. Conclusions. 18F-FDG PET demonstrates high diagnostic accuracy for response to initial chemotherapy in patients with ES and it correlates with outcome. The role of FDG PET in predicting response and outcome should be further investigated (AU)

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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.

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.

Congenital Ewing's Sarcoma in a neonate in Uyo--a case report.

Congenital Ewing's sarcoma is a very rare occurrence indeed with only one case involving the humerus and none involving the ulna that has been noted in the literature to our knowledge. It is one of those tumours that not only do they rarely occur in the neonatal period, but is also very uncommon in black people. We present a case report of Congenital Ewing's Sarcoma in a black female infant involving the ulna bone and surrounding soft tissues which was diagnosed by histology and immnohistochemistry.

Congenital Askin tumor with favorable outcome: case report and review of the literature.

Several disorders may present as cystic complex lesions of the fetal thorax, both with benign and malignant behavior. As a consequence, their detection may pose diagnostic, therapeutic, and parental counseling dilemmas. We describe a neonate with a congenital Askin tumor, diagnosed at the 37th week of gestation and treated after birth. Counseling and treatment challenges are discussed.

Congenital soft tissue Ewing's sarcoma.

A 15 days old female baby presented with a 6 x 7 cm reddish lump with irregular margins on her right scapular region, since birth. Histopathology and immunohistochemistry of excised tissue revealed it to be soft tissue Ewing's sarcoma. Postoperatively, she received only one dose of chemotherapy but could not survive and expired at the age of one month.

Extraosseal Ewing sarcoma as a rare cause of the blueberry muffin baby syndrome: a case report and the review of the literature.

The blueberry muffin baby syndrome can be caused by a variety of entities, both neoplastic and nonneoplastic. We present a rare cause of this syndrome: congenital extraosseal Ewing sarcoma. The patient was a blueberry muffin baby with a retroperitoneal tumor, whose cells were negative for neuronal markers and CD-99 immunohistochemically but were positive for a breakpoint in EWSR1 gene. This tumor could be one of the most primitive/undifferentiated examples in the Ewing/peripheral primitive neuroectodermal tumor family.

Congenital paraspinal Ewing sarcoma family of tumors with an epidural extension.

Congenital Ewing sarcoma family of tumors (ESFT) is a rare disease, and only 12 patients have been reported. Among those patients, only two had paraspinal tumors with an epidural extension. A 3-week-old infant boy presented with a huge dorsal mass. Whole-spine MRI scans showed a paraspinal mass with an epidural extension from the T11 to L2 levels, causing severe spinal cord compression. An initial operation was performed to confirm the pathological diagnosis. Twenty days after the first operation, the patient showed left lower-extremity weakness. A second operation was performed with a laminectomy from the T11 to L2 levels, and the epidural mass was radically resected. Pathologically, the tumor was confirmed as an ESFT. The patient received adjuvant chemotherapy. His neurological deficit recovered after the second surgery, and there was no tumor recurrence during 17 months of follow-up.

Congenital Ewing sarcoma in retroperitoneum with multiple metastases.

A 7-day-old Japanese female showed the absence of spontaneous movement in her both legs. MRI revealed tumors in the retroperitoneum invading into the spinal canal, the left cerebral hemisphere and the right eyeball. Histological examination of retroperitoneal tumor revealed the sheets of undifferentiated small round cells with hyperchromatic nuclei and scanty cytoplasm. EWS-FLI1 fusion gene was detected by RT-PCR, indicating Ewing sarcoma. She received chemo-radiotherapy and survived for 2 years and 10 months despite the multiple metastases at initial presentation.

Congenital Ewing's sarcoma of the humerus.

We report an extremely rare case of Ewing's sarcoma (ES) of the humerus in a Chinese neonate. Plain radiography and magnetic resonance imaging showed extensive neoplastic involvement of the humeral diaphysis and adjacent soft tissues, confirmed on histology and immunohistochemistry as being due to ES. This is the first report of congenital ES in a long bone. Since ultrasound at 20 weeks gestation showed a normal fetal skeleton, the ES may have begun to develop in the late middle or third trimester.

Congenital extraskeletal Ewing's sarcoma of the face: a case report.

This is the first reported case of congenital extraskeletal Ewing's sarcoma (EES) in the head and neck region. The tumor arose from the medial aspect of the right lower eyelid and rapidly increased in size despite surgery and chemotherapy. Accurate histologic diagnosis is emphasized, and the differential diagnosis, pathology, and treatment are discussed.