Resultados de Búsqueda por Autor

artículo

Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations

Publicado por
Koelsche, C, Mynarek, M, Schrimpf, D, Bertero, L, Serrano, J, Sahm, F, Reuss, DE, Hou, Y, Baumhoer, D, Vokuhl, C, Flucke, U, Petersen, I, Brück, W, Rutkowski, S, Casavilca Zambrano, Sandro, Garcia Leon, JL, Diaz Coronado, RY, Gessler, M, Tirado, OM, Mora, J, Alonso, J, Garcia Del Muro, X, Esteller, M, Sturm, D, Ecker, J, Milde, T, Pfister, SM, Korshunov, A, Snuderl, M, Mechtersheimer, G, Schüller, U, Jones, DTW, von Deimling, A

Publicado 2022

Enlace

Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling. In addition, two uterine rhabdomyosarcomas sharing identical features were identified. Gene panel sequencing of the 22 intracranial sarcomas revealed the almost unifying feature of DICER1 hotspot mutations (21/22; 95%) and a high frequency of co-occurring TP53 mutations (12/22; 55%). In addition, 17/22 (77%) sarcomas exhibited alterations in the mitogen-activated protein kinase pathway, most frequently affecting the mutational hotspots of KRAS (8/22; 36%) and mutations or deletions of NF1 (7/22; 32%), followed by muta...

artículo

Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients

Publicado por
Diaz Coronado, RY, Mynarek, M, Koelsche, C, Mora Alferez, P, Casavilca, S, Wachtel Aptowitzer, A, Sahm, F, von Deimling, A, Schüller, U, Spohn, M, Sturm, D, Pfister, SM, Morales La Madrid, A, Sernaque Quintana, R, Sarria Bardales, G, Negreiros Chinchihuara, T, Ojeda Medina, L, Garcia-Corrochano Medina, P, Campos Sanchez, DA, Ponce Farfan, J, Rutkowski, S, Garcia Leon, JL

Publicado 2021

Enlace

Background: A high frequency of primary central nervous system (CNS) sarcomas was observed in Peru. This article describes the clinical characteristics, biological characteristics, and outcome of 70 pediatric patients. Methods: Data from 70 pediatric patients with primary CNS sarcomas diagnosed between January 2005 and June 2018 were analyzed. DNA methylation profiling from 28 tumors and gene panel sequencing from 27 tumors were available. Results: The median age of the patients was 6 years (range, 2-17.5 years), and 66 of 70 patients had supratentorial tumors. DNA methylation profiling classified 28 of 28 tumors as primary CNS sarcoma, DICER1 mutant. DICER1 mutations were found in 26 of 27 cases, TP53 mutations were found in 22 of 27 cases, and RAS-pathway gene mutations (NF1, KRAS, and NRAS) were found in 19 of 27 tumors, all of which were somatic (germline control available in 19 case...