@article{MTMT:33611122,
	title = {Rare embryonal and sarcomatous central nervous system tumours: State-of-the art and future directions},
	url = {https://m2.mtmt.hu/api/publication/33611122},
	author = {Gojo, Johannes and Kjaersgaard, Mimi and Zezschwitz, Barbara V and Capper, David and Tietze, Anna and Kool, Marcel and Haberler, Christine and Pizer, Barry and Hoff, Katja V},
	doi = {10.1016/j.ejmg.2022.104660},
	journal-iso = {EUR J MED GENET},
	journal = {EUROPEAN JOURNAL OF MEDICAL GENETICS},
	volume = {66},
	unique-id = {33611122},
	issn = {1769-7212},
	year = {2023},
	eissn = {1878-0849},
	orcid-numbers = {Gojo, Johannes/0000-0002-8113-3416}
}

@article{MTMT:32010637,
	title = {Embryonal tumors with multilayered rosettes: A tertiary care centre experience},
	url = {https://m2.mtmt.hu/api/publication/32010637},
	author = {Kumar, N. and Madan, R. and Gupta, K. and Chatterjee, D. and Uppal, D. K. and Goyal, S. and Ballari, N. and Khosla, D. and Sahoo, S. K. and Ahuja, C. K.},
	doi = {10.1016/j.clineuro.2021.106508},
	journal-iso = {CLIN NEUROL NEUROSUR},
	journal = {CLINICAL NEUROLOGY AND NEUROSURGERY},
	volume = {202},
	unique-id = {32010637},
	issn = {0303-8467},
	abstract = {Background: Embryonal tumors with multilayered rosettes (ETMR) is an extremely rare and highly aggressive tumor. It includes three distinct entities i.e, embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL) and medulloepithelioma (MEPL). Here, we present our institutional experience of seven ETMR cases treated over a period of five years. Materials and methods: Patients & rsquo; records from 2015 to 2019 were reviewed manually and electronically to retrieve the data. Clinicopathological and outcome details of ETMR cases were entered in a predesigned proforma. Results: A total of seven cases of ETMR were registered from 2015 to 2019 with a median age at presentation of four years (range 3 & ndash;7 years). All patients underwent surgery. However, only three patients completed the planned adjuvant treatment, comprising of focal radiotherapy (RT) alone, craniospinal irradiation (CSI) alone and CSI followed by six cycles of chemotherapy in one patient each respectively. Two patients commenced CSI but deteriorated during RT and thereafter needed best supportive care. Two patients could not be started on any adjuvant treatment. Unfortunately, six patients succumbed to their disease within one year of their diagnosis. Only one patient who received both CSI and adjuvant chemotherapy is alive at 15 months of diagnosis. Conclusion: ETMR is a rare and aggressive entity. Majority of the patients die within one year of the diagnosis despite multimodality treatment.},
	keywords = {CHEMOTHERAPY; surgery; RADIOTHERAPY; Clinical Neurology},
	year = {2021},
	eissn = {1872-6968}
}

@article{MTMT:32327650,
	title = {Therapeutic implications of improved molecular diagnostics for rare CNS embryonal tumor entities: results of an international, retrospective study},
	url = {https://m2.mtmt.hu/api/publication/32327650},
	author = {von Hoff, Katja and Haberler, Christine and Schmitt-Hoffner, Felix and Schepke, Elizabeth and de Rojas, Teresa and Jacobs, Sandra and Zapotocky, Michal and Sumerauer, David and Perek-Polnik, Marta and Dufour, Christelle and van Vuurden, Dannis and Slavc, Irene and Gojo, Johannes and Pickles, Jessica C. and Gerber, Nicolas U. and Massimino, Maura and Gil-da-Costa, Maria Joao and Garami, Miklós and Kumirova, Ella and Sehested, Astrid and Scheie, David and Cruz, Ofelia and Moreno, Lucas and Cho, Jaeho and Zeller, Bernward and Bovenschen, Niels and Grotzer, Michael and Alderete, Daniel and Snuderl, Matija and Zheludkova, Olga and Golanov, Andrey and Okonechnikov, Konstantin and Mynarek, Martin and Juhnke, Bjoern Ole and Rutkowski, Stefan and Schuller, Ulrich and Pizer, Barry and von Zezschwitz, Barbara and Kwiecien, Robert and Wechsung, Maximilian and Konietschke, Frank and Hwang, Eugene I and Sturm, Dominik and Pfister, Stefan M. and von Deimling, Andreas and Rushing, Elisabeth J. and Ryzhova, Marina and Hauser, Péter and Lastowska, Maria and Wesseling, Pieter and Giangaspero, Felice and Hawkins, Cynthia and Figarella-Branger, Dominique and Eberhart, Charles and Burger, Peter and Gessi, Marco and Korshunov, Andrey and Jacques, Tom S. and Capper, David and Pietsch, Torsten and Kool, Marcel},
	doi = {10.1093/neuonc/noab136},
	journal-iso = {NEURO-ONCOLOGY},
	journal = {NEURO-ONCOLOGY},
	volume = {23},
	unique-id = {32327650},
	issn = {1522-8517},
	abstract = {Background. Only few data are available on treatment-associated behavior of distinct rare CNS embryonal tumor entities previously treated as "CNS-primitive neuroectodermal tumors" (CNS-PNET). Respective data on specific entities, including CNS neuroblastoma, FOXR2 activated (CNS NB-FOXR2), and embryonal tumors with multilayered rosettes (ETMR) are needed for development of differentiated treatment strategies.Methods. Within this retrospective, international study, tumor samples of clinically well-annotated patients with the original diagnosis of CNS-PNET were analyzed using DNA methylation arrays (n = 307). Additional cases (n = 66) with DNA methylation pattern of CNS NB-FOXR2 were included irrespective of initial histological diagnosis. Pooled clinical data (n = 292) were descriptively analyzed.Results. DNA methylation profiling of "CNS-PNET" classified 58 (19%) cases as ETMR, 57 (19%) as high-grade glioma (HGG), 36 (12%) as CNS NB-FOXR2, and 89(29%) cases were classified into 18 other entities. Sixty-seven (22%) cases did not show DNA methylation patterns similar to established CNS tumor reference classes. Best treatment results were achieved for CNS NB-FOXR2 patients (5-year PFS: 63% 7%, OS: 85% +/- 5%, n = 63), with 35/42 progression-free survivors after upfront craniospinal irradiation (CSI) and chemotherapy. The worst outcome was seen for ETMR and HGG patients with 5-year PFS of 18% +/- 6% and 22% +/- 7%, and 5-year OS of 24% +/- 6% and 25% +/- 7%, respectively.Conclusion. The historically reported poor outcome of CNS-PNET patients becomes highly variable when tumors are molecularly classified based on DNA methylation profiling. Patients with CNS NB-FOXR2 responded well to current treatments and a standard-risk CSI-based regimen may be prospectively evaluated. The poor outcome of ETMR across applied treatment strategies substantiates the necessity for evaluation of novel treatments.},
	keywords = {DNA methylation profiling; ETMR; CNS-PNET; CNS NB-FOXR2; CNS embryonal tumor},
	year = {2021},
	eissn = {1523-5866},
	pages = {1597-1611},
	orcid-numbers = {von Hoff, Katja/0000-0002-5669-8546; Garami, Miklós/0000-0003-4298-2746; Snuderl, Matija/0000-0003-0752-0917; Konietschke, Frank/0000-0002-5674-2076; Sturm, Dominik/0000-0003-0250-1696; von Deimling, Andreas/0000-0002-5863-540X; Hauser, Péter/0000-0002-8307-8975; Capper, David/0000-0003-1945-497X}
}

@article{MTMT:32010638,
	title = {Potential Importance of Early Focal Radiotherapy Following Gross Total Resection for Long-Term Survival in Children With Embryonal Tumors With Multilayered Rosettes},
	url = {https://m2.mtmt.hu/api/publication/32010638},
	author = {Mayr, Lisa and Gojo, Johannes and Peyrl, Andreas and Azizi, Amedeo A. and Stepien, Natalia M. and Pletschko, Thomas and Czech, Thomas and Dorfer, Christian and Lambo, Sander and Dieckmann, Karin and Haberler, Christine and Kool, Marcel and Slavc, Irene},
	doi = {10.3389/fonc.2020.584681},
	journal-iso = {FRONT ONCOL},
	journal = {FRONTIERS IN ONCOLOGY},
	volume = {10},
	unique-id = {32010638},
	issn = {2234-943X},
	abstract = {Embryonal tumor with multilayered rosettes (ETMR) is a rare, aggressive embryonal central nervous system tumor characterized by LIN28A expression and alterations in the C19MC locus. ETMRs predominantly occur in young children, have a dismal prognosis, and no definitive treatment guidelines have been established. We report on nine consecutive patients and review the role of initiation/timing of radiotherapy on survival. Between 2006 and 2018, nine patients were diagnosed with ETMR. Diagnosis was confirmed histopathologically, immunohistochemically and molecularly. Median age was 25 months (5-38). Location was supratentorial in five, pineal in three, and brainstem in one. Seven patients had a gross total resection, one a partial resection and one a biopsy at initial diagnosis. Chemotherapy augmented with intrathecal therapy started a median of 10 days (7-20) after surgery. Only two patients who after gross total resection received radiotherapy very early on (six weeks after diagnosis) are alive and in complete remission 56 and 50 months after diagnosis. All remaining patients for whom radiotherapy was deferred until the end of chemotherapy recurred, albeit none with leptomeningeal disease. A literature research identified 228 patients with ETMR. Including our patients only 26 (11%) of 237 patients survived >36 months with no evidence of disease at last follow-up. All but two long-term (>36 months) survivors received radiotherapy, ten of whom early on following gross total resection (GTR). GTR followed by early focal radiotherapy and intrathecal therapy to prevent leptomeningeal disease are potentially important to improve survival of ETMR in the absence of effective targeted therapies.},
	keywords = {CLASSIFICATION; CHEMOTHERAPY; CENTRAL-NERVOUS-SYSTEM; medulloblastoma; RADIOTHERAPY; Focal radiotherapy; embryonal tumor with multilayered rosette; embryonal tumor with abundant neuropil and true rosette; intrathecal therapy; INTRATHECAL LIPOSOMAL CYTARABINE; ABUNDANT NEUROPIL; TRUE ROSETTES; HIT 2000; MEDULLOEPITHELIOMA},
	year = {2020},
	eissn = {2234-943X}
}

@article{MTMT:30734394,
	title = {Targeted radioimmunotherapy for embryonal tumor with multilayered rosettes},
	url = {https://m2.mtmt.hu/api/publication/30734394},
	author = {Bailey, Kayleen and Pandit-Taskar, Neeta and Humm, John L. and Zanzonico, Pat and Gilheeney, Stephen and Cheung, Nai-Kong V. and Kramer, Kim},
	doi = {10.1007/s11060-019-03139-6},
	journal-iso = {J NEURO-ONCOL},
	journal = {JOURNAL OF NEURO-ONCOLOGY},
	volume = {143},
	unique-id = {30734394},
	issn = {0167-594X},
	abstract = {PurposeWe explored the use of intraventricular I-131-Omburtamab targeting B7-H3 in patients with ETMR.MethodsPatients were enrolled in an IRB approved, phase 1, 3+3 dose escalation trial. Patients with CNS disease expressing the antibody target antigen B7-H3 were eligible. We report on a cohort of three patients with ETMR who were enrolled on the study. Three symptomatic children (ages 14 months, 3 and 3.5years) had large parietal masses confirmed to be B7-H3-reactive ETMR. Patients received 2mCi I-131-Omburtamab as a tracer followed by one or two therapeutic I-131-Omburtamab injections. Dosimetry was based on serial CSF, blood samplings and region of interest (ROI) on nuclear scans. Brain and spine MRIs and CSF cytology were done at baseline, 5 weeks after I-131-Omburtamab, and approximately every 3months thereafter. Acute toxicities and survival were noted.ResultsPatients received surgery, focal radiation, and high dose chemotherapy. Patients 1 and 2 received I-131-Omburtamab (80 and 53mCi, respectively). Patient 3 had a local recurrence prior to I-131-Omburtamab treated with surgery, external beam radiation, chemotherapy, then I-131-Omburtamab (36mCi). I-131-Omburtamab was well-tolerated. Mean dose delivered by I-131-Omburtamab was 68.4cGy/mCi to CSF and 1.95cGy/mCi to blood. Mean ROI doses were 230.4 (ventricular) and 58.2 (spinal) cGy/mCi. Patients 1 and 2 remain in remission 6.8years and 2.3years after diagnosis, respectively; patient 3 died of progressive disease 7months after therapy (2years after diagnosis).Conclusions(131)I-Omburtamab appears safe with favorable dosimetry therapeutic index. When used as consolidation following surgery and chemoradiation therapy, I-131-Omburtamab may have therapeutic benefit for patients with ETMR.},
	keywords = {radioimmunotherapy; Embryonal tumor with multilayered rosettes; ETMR; I-131-Omburtamab; I-131-8H9},
	year = {2019},
	eissn = {1573-7373},
	pages = {101-106}
}

@article{MTMT:30734393,
	title = {EMBRYONAL TUMOUR WITH MULTI-LAYERED ROSETTE- A RARE CASE REPORT},
	url = {https://m2.mtmt.hu/api/publication/30734393},
	author = {Nandakumar, G. and Francis, Nisha and Nair, Krishna Govindan Balachandran},
	doi = {10.14260/jemds/2019/264},
	journal-iso = {J EVOL MED DENT SCI-},
	journal = {JOURNAL OF EVOLUTION OF MEDICAL AND DENTAL SCIENCES-JEMDS},
	volume = {8},
	unique-id = {30734393},
	issn = {2278-4748},
	year = {2019},
	eissn = {2278-4802},
	pages = {1199-1201}
}

@article{MTMT:30480123,
	title = {Embryonal tumor with multilayered rosettes: illustrative case and review of the literature},
	url = {https://m2.mtmt.hu/api/publication/30480123},
	author = {Bouali, Sofiene and Zehani, Alia and Mahmoud, Maha and Said, Imed Ben and Kallel, Jalel and Jemel, Hafedh},
	doi = {10.1007/s00381-018-3972-x},
	journal-iso = {CHILD NERV SYST},
	journal = {CHILDS NERVOUS SYSTEM},
	volume = {34},
	unique-id = {30480123},
	issn = {0256-7040},
	abstract = {BackgroundEmbryonal tumor with multilayered rosettes (ETMR) is a very rare entity and has seldom been reported. It has been newly defined tumor entity included in the latest update (revised fourth edition) of WHO 2016 Classification of Tumors of the Central Nervous System which portends a uniform dismal prognosis and survival even with the best of multimodality approaches.Illustrative caseThis report documents the presentation of a 2-year-old girl with voluminous intracranial ETMR in the right parieto-occipital region. We describe clinical diagnosis, histological aspects, radiological features, and current management of this very aggressive tumor.ConclusionPediatric intracranial ETMR is a highly aggressive neoplasm, and it should be considered in the differential diagnosis of pediatric brain tumors.},
	keywords = {surgery; Lin28a; Embryonal tumor with multilayered rosettes; C19MC},
	year = {2018},
	eissn = {1433-0350},
	pages = {2361-2369}
}

@article{MTMT:27239765,
	title = {Extracranial extra-CNS spread of embryonal tumor with multilayered rosettes (ETMR): case series and systematic review},
	url = {https://m2.mtmt.hu/api/publication/27239765},
	author = {Shah, AH and Khatib, Z and Niazi, T},
	doi = {10.1007/s00381-017-3657-x},
	journal-iso = {CHILD NERV SYST},
	journal = {CHILDS NERVOUS SYSTEM},
	volume = {34},
	unique-id = {27239765},
	issn = {0256-7040},
	year = {2018},
	eissn = {1433-0350},
	pages = {649-654}
}

@{MTMT:27239766,
	title = {Atypical teratoid rhabdoid tumors (AT/RT) and ETMR},
	url = {https://m2.mtmt.hu/api/publication/27239766},
	author = {McGovern, SL},
	booktitle = {Radiation Oncology for Pediatric CNS Tumors},
	doi = {10.1007/978-3-319-55430-3_8},
	publisher = {Springer Netherlands},
	unique-id = {27239766},
	year = {2017},
	pages = {147-162}
}

@article{MTMT:27053772,
	title = {Preclinical drug screen reveals topotecan, actinomycin D, and volasertib as potential new therapeutic candidates for ETMR brain tumor patients},
	url = {https://m2.mtmt.hu/api/publication/27053772},
	author = {Schmidt, Christin and Schubert, Nil A and Brabetz, Sebastian and Mack, Norman and Schwalm, Benjamin and Chan, Jennifer A and Selt, Florian and Herold-Mende, Christel and Witt, Olaf and Milde, Till and Pfister, Stefan M and Korshunov, Andrey and Kool, Marcel},
	doi = {10.1093/neuonc/nox093},
	journal-iso = {NEURO-ONCOLOGY},
	journal = {NEURO-ONCOLOGY},
	volume = {19},
	unique-id = {27053772},
	issn = {1522-8517},
	year = {2017},
	eissn = {1523-5866},
	pages = {1607-1617}
}

@article{MTMT:26979820,
	title = {Focal Radiotherapy and Temozolomide Following Complete Resection are Superior to Intensive Chemotherapy in Children with Embryonal Tumors with Multilayered Rosettes (ETMR)},
	url = {https://m2.mtmt.hu/api/publication/26979820},
	author = {Slavc, I and Peyrl, A and Azizi, AA and Gojo, J and Reisinger, D and Mayr, L and Czech, T and Dieckmann, K and Haberler, C},
	journal-iso = {PEDIATR BLOOD CANCER},
	journal = {PEDIATRIC BLOOD & CANCER},
	volume = {64},
	unique-id = {26979820},
	issn = {1545-5009},
	year = {2017},
	eissn = {1545-5017},
	pages = {S313-S313}
}