title: A gene signature for a long-term survivor of an atypical teratoid/rhabdoid tumor.
abstract: Atypical teratoid/rhabdoid tumors (AT/RTs) are aggressive brain tumors that are commonly associated with a dismal prognosis. However, there have been isolated reports of long-term survival that was not necessarily correlated with other prognostic factors such as age, clinical stage, or extent of surgical resection. Here, we report the case of a 6-year-old boy with AT/RT who remained disease-free for 8 years after undergoing subtotal surgical resection followed only by radiation therapy. On recurrence, the tumor rapidly progressed, leading to the patient's death a short time later. To further characterize this case and learn more about the tumor biology of long-term survivors, we compared the gene expression (GE) profiles from representative samples obtained from primary, recurrent, and progressive disease tumors of the above-mentioned patient along with a cohort of primary untreated AT/RT samples using cDNA microarrays. Global GE analysis and unsupervised hierarchical clustering showed the three events clustered together and distinctly apart from the rest of the samples. This indicates a GE background that is maintained throughout the course of the disease. This unique case suggests that there may be specific clinical characteristics associated with distinctive molecular subtypes of AT/RT. The identification and characterization of AT/RT subtypes could lead to advances in both prognosis and treatment of these tumors.
authors: Division of Pediatric Neurosurgery, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Feinberg School of Medicine, Northwestern University, Chicago, IL, USA; Cancer Biology and Epigenomics Program, Lurie Children's Research Center, Chicago, IL, USA. Electronic address: ssredni@luriechildrens.org.
authors: Simone T
authors: ST
authors: Sredni
authors: Joseph J. Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI, USA.
authors: Chiang-Ching
authors: CC
authors: Huang
authors: Division of Pediatric Neurosurgery, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
authors: Tatiana
authors: T
authors: Pundy
authors: Division of Pediatric Neurosurgery, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
authors: Kashyap
authors: K
authors: Patel
authors: Division of Pediatric Neurosurgery, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
authors: Abby L
authors: AL
authors: Halpern
authors: Division of Pediatric Neurosurgery, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
authors: Alex T
authors: AT
authors: Grupenmacher
authors: Department of Pathology and Laboratorial Medicine, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
authors: Pauline M
authors: PM
authors: Chou
authors: Feinberg School of Medicine, Northwestern University, Chicago, IL, USA; Cancer Biology and Epigenomics Program, Lurie Children's Research Center, Chicago, IL, USA.
authors: Maria de Fátima
authors: Mde F
authors: Bonaldo
authors: Division of Pediatric Neurosurgery, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
authors: Tadanori
authors: T
authors: Tomita
mesh_terms: D000293:Adolescent; D001932:Brain Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D020869:Gene Expression Profiling; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008297:Male; D009364:Neoplasm Recurrence, Local / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D011859:Radiography; D018335:Rhabdoid Tumor / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D017741:Survivors; D013724:Teratoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology* / Q000601:surgery
keywords: AT/RT; Rhabdoid; gene expression; long-term survivor