Ryuma Tanaka1,2, Kyohei Inoue3, Yuji Yamada3,4, Masanori Yoshida4,5, Haruko Shima3, Jumpei Ito3, Hajime Okita6, Tomoru Miwa7, Motohiro Kato4,8, Hiroyuki Shimada3. 1. Division of Hem/Onc/BMT, Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, MFRC3018, Milwaukee, WI, 53226, USA. rtanaka@mcw.edu. 2. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. rtanaka@mcw.edu. 3. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. 4. Department of Pediatric Hematology and Oncology Research, National Center for Child Health and Development, Tokyo, Japan. 5. Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. 6. Division of Diagnostic Pathology, Keio University School of Medicine, Tokyo, Japan. 7. Department of Neurosurgery, Keio University School of Medicine, Tokyo, Japan. 8. Department of Pediatrics, The University of Tokyo, Tokyo, Japan.
Abstract
PURPOSE: Primary central nervous system (CNS) rhabdomyosarcoma is a rare mesenchymal tumor predominantly seen in children and associated with a poor outcome. We report a case of primary CNS rhabdomyosarcoma with PAX3-NCOA2 fusion and present a systematic meta-review of primary CNS rhabdomyosarcoma to characterize this rare tumor. METHODS: We present the case of a 6-year-old boy with primary CNS rhabdomyosarcoma in the posterior fossa. In a systematic meta-review, we compare the demographic data of primary CNS rhabdomyosarcoma with data of rhabdomyosarcoma at all sites from the SEER database and analyze clinical factors associated with survival outcome. RESULTS: Our patient underwent gross total resection and received vincristine, actinomycin-D, cyclophosphamide with early introduction of concurrent focal radiation and remained alive with no evidence of disease for 2 years after the end of therapy. Histopathological review revealed embryonal-type rhabdomyosarcoma, and whole-transcriptome analysis revealed PAX3 (EX6)-NCOA2 (EX12) fusion. In all, 77 cases of primary CNS rhabdomyosarcoma were identified through the meta-review. The demographic data of primary CNS rhabdomyosarcoma were similar to data of rhabdomyosarcoma at all sites. Overall and event-free survival outcomes were available for 64 and 56 patients, respectively, with a 3-year OS of 29.0% and a 3-year EFS of 25.7%. The group that received trimodal treatment exhibited better survival outcomes, with a 3-year OS of 57.4% and a 3-year EFS of 46.3%. CONCLUSIONS: Primary CNS rhabdomyosarcoma shares common histological, molecular, and demographic features with non-CNS rhabdomyosarcoma. A trimodal treatment approach with early introduction of radiation therapy may result in favorable survival outcomes.
PURPOSE: Primary central nervous system (CNS) rhabdomyosarcoma is a rare mesenchymal tumor predominantly seen in children and associated with a poor outcome. We report a case of primary CNS rhabdomyosarcoma with PAX3-NCOA2 fusion and present a systematic meta-review of primary CNS rhabdomyosarcoma to characterize this rare tumor. METHODS: We present the case of a 6-year-old boy with primary CNS rhabdomyosarcoma in the posterior fossa. In a systematic meta-review, we compare the demographic data of primary CNS rhabdomyosarcoma with data of rhabdomyosarcoma at all sites from the SEER database and analyze clinical factors associated with survival outcome. RESULTS: Our patient underwent gross total resection and received vincristine, actinomycin-D, cyclophosphamide with early introduction of concurrent focal radiation and remained alive with no evidence of disease for 2 years after the end of therapy. Histopathological review revealed embryonal-type rhabdomyosarcoma, and whole-transcriptome analysis revealed PAX3 (EX6)-NCOA2 (EX12) fusion. In all, 77 cases of primary CNS rhabdomyosarcoma were identified through the meta-review. The demographic data of primary CNS rhabdomyosarcoma were similar to data of rhabdomyosarcoma at all sites. Overall and event-free survival outcomes were available for 64 and 56 patients, respectively, with a 3-year OS of 29.0% and a 3-year EFS of 25.7%. The group that received trimodal treatment exhibited better survival outcomes, with a 3-year OS of 57.4% and a 3-year EFS of 46.3%. CONCLUSIONS: Primary CNS rhabdomyosarcoma shares common histological, molecular, and demographic features with non-CNS rhabdomyosarcoma. A trimodal treatment approach with early introduction of radiation therapy may result in favorable survival outcomes.
Authors: Leanne de Kock; Dominique Geoffrion; Barbara Rivera; Rabea Wagener; Nelly Sabbaghian; Susanne Bens; Benjamin Ellezam; Dorothée Bouron-Dal Soglio; Jessica Ordóñez; Stephanie Sacharow; Jose Fernando Polo Nieto; R Paul Guillerman; Gordan M Vujanic; John R Priest; Reiner Siebert; William D Foulkes Journal: Genes Chromosomes Cancer Date: 2018-02-10 Impact factor: 5.006
Authors: Christian Koelsche; Martin Mynarek; Daniel Schrimpf; Luca Bertero; Jonathan Serrano; Felix Sahm; David E Reuss; Yanghao Hou; Daniel Baumhoer; Christian Vokuhl; Uta Flucke; Iver Petersen; Wolfgang Brück; Stefan Rutkowski; Sandro Casavilca Zambrano; Juan Luis Garcia Leon; Rosdali Yesenia Diaz Coronado; Manfred Gessler; Oscar M Tirado; Jaume Mora; Javier Alonso; Xavier Garcia Del Muro; Manel Esteller; Dominik Sturm; Jonas Ecker; Till Milde; Stefan M Pfister; Andrey Korshunov; Matija Snuderl; Gunhild Mechtersheimer; Ulrich Schüller; David T W Jones; Andreas von Deimling Journal: Acta Neuropathol Date: 2018-06-07 Impact factor: 17.088
Authors: David N Louis; Arie Perry; Guido Reifenberger; Andreas von Deimling; Dominique Figarella-Branger; Webster K Cavenee; Hiroko Ohgaki; Otmar D Wiestler; Paul Kleihues; David W Ellison Journal: Acta Neuropathol Date: 2016-05-09 Impact factor: 17.088
Authors: Mubarak Al-Gahtany; Manohar Shroff; Eric Bouffet; Peter Dirks; James Drake; Robin Humphreys; Normand Laperriere; Cynthia Hawkins; James Rutka; Manohar Shroft Journal: Childs Nerv Syst Date: 2003-10-22 Impact factor: 1.475