The genomic landscape of pediatric Ewing sarcoma.
نویسندگان
چکیده
UNLABELLED Pediatric Ewing sarcoma is characterized by the expression of chimeric fusions of EWS and ETS family transcription factors, representing a paradigm for studying cancers driven by transcription factor rearrangements. In this study, we describe the somatic landscape of pediatric Ewing sarcoma. These tumors are among the most genetically normal cancers characterized to date, with only EWS-ETS rearrangements identified in the majority of tumors. STAG2 loss, however, is present in more than 15% of Ewing sarcoma tumors; occurs by point mutation, rearrangement, and likely nongenetic mechanisms; and is associated with disease dissemination. Perhaps the most striking finding is the paucity of mutations in immediately targetable signal transduction pathways, highlighting the need for new therapeutic approaches to target EWS-ETS fusions in this disease. SIGNIFICANCE We performed next-generation sequencing of Ewing sarcoma, a pediatric cancer involving bone, characterized by expression of EWS-ETS fusions. We found remarkably few mutations. However, we discovered that loss of STAG2 expression occurs in 15% of tumors and is associated with metastatic disease, suggesting a potential genetic vulnerability in Ewing sarcoma.
منابع مشابه
An Epidemiologic Study of Ewing Sarcoma Family at SHAFA Hospital in Khozestan Province-IRAN, a Referral Children Cancer Treatment Center
ABSTRACT Background Ewing Sarcoma is the second most frequent primary bone cancer, following Osteosarcoma in children. These tumors consist of small, round, or oval cells, which are believed to derive from parasympathetic autonomic nervous system. The common clinical presentations are pain, local tenderness, fever, palpable mass, and pathologic fractures. Methods and Materials This study de...
متن کاملsCD30 and sCD40L Detection in Patients with Osteosarcoma, Chondrosarcoma and Ewing Sarcoma
Background: Primary malignant bone tumors are heterogeneous groups of neoplasms, which affect mainly children and adolescents. The most common types are Osteosarcoma, Ewing sarcoma and chondrosarcoma. Elevation of sCD30 and sCD40L has been observed in lymphoma, leukemia and autoimmune disorders. Objective: To evaluate serum concentrations of sCD30 and sCD40L in patients with primary malignant b...
متن کاملThe Survival and Incidence Rate of Ewing Sarcoma; a National Population-based Study in Iran (2008-2015)
Background: The effect of race and ethnicity on some kind of malignant bone tumors including Ewing sarcomahas been proven in different studies. In order to evaluate the latter, national cancer registries may help to increaseunderstanding about potential cancer causes, prevention and control strategies, and apply these findings to controlhealth problems among populations with s...
متن کاملPrimary Extraosseous Ewing Sarcoma of the Maxillary Sinus in an Adult-A Rare Case Report
Introduction: Ewing sarcoma (ES), which is described as diffuse endothelioma of the bone, is divided into osseous and extraosseous Ewing sarcoma (EES) mostly affecting children and adolescents. It is a rare, aggressive, and poorly differentiated small blue round cell tumor that seldom affects the head and neck regions. Case Report: Herein, we reported a 46-year-old ma...
متن کاملA Case of Ewing Sarcoma of the Mandible on 18F-FDG PET/CT
Ewing Sarcoma is the second most common type of bone cancer in children. The dominant features of this malignant bone tumor are the tendency for rapid growth and metastasis. In addition, Ewing sarcoma of the mandible is extremely rare and can be mistaken for odontogenic infection. We report a 14-year-old girl who had had swelling, pain, and hypoesthesia in the left cheek for three weeks. She ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Cancer discovery
دوره 4 11 شماره
صفحات -
تاریخ انتشار 2014