Embryonal tumor with multilayered rosettes: Overview of diagnosis and therapy

被引：6

作者：

Chadda, Karan R. ^{[1
]}

Solano-Paez, Palma ^{[2
]}

Khan, Sara ^{[3
,4
,5
,6
]}

Llempen-Lopez, Mercedes ^{[2
]}

Phyu, Poe ^{[7
]}

Horan, Gail ^{[8
]}

Trotman, Jamie ^{[9
]}

Tarpey, Patrick ^{[9
]}

Erker, Craig ^{[10
,11
]}

Lindsay, Holly ^{[12
]}

Addy, Dilys ^{[13
]}

Jacques, Thomas S. ^{[14
,15
]}

Allinson, Kieren ^{[16
]}

Pizer, Barry ^{[17
]}

Huang, Annie ^{[3
,18
,19
]}

Murray, Matthew J. ^{[1
,20
]}

机构：

[1] Univ Cambridge, Dept Pathol, Cambridge, England

[2] Hosp Infantil Virgen del Rocio, Dept Pediat Hematol & Oncol, Seville, Spain

[3] Hosp Sick Children, Arthur & Sonia Labatt Brain Tumor Res Ctr, Toronto, ON, Canada

[4] Monash Childrens Hosp, Monash Hlth, Monash Childrens Canc Ctr, Melbourne, Vic, Australia

[5] Hudson Inst Med Res, Ctr Canc Res, Melbourne, Vic, Australia

[6] Monash Univ, Sch Med Nursing & Hlth Sci, Dept Mol & Translat Sci, Melbourne, Vic, Australia

[7] Cambridge Univ Hosp NHS Fdn Trust, Dept Radiol, Cambridge, England

[8] Cambridge Univ Hosp NHS Fdn Trust, Dept Oncol, Cambridge, England

[9] Cambridge Univ Hosp NHS Fdn Trust, East Genom Lab Hub GLH Genet Lab, Cambridge, England

[10] Dalhousie Univ, Div Pediat Hematol Oncol, Dept Pediat, Halifax, NS, Canada

[11] IWK Hlth Ctr, Halifax, NS, Canada

[12] Texas Childrens Hosp, Div Hematol & Oncol, Dept Pediat, Baylor Coll Med, Houston, TX USA

[13] Great Ormond St Hosp Children NHS FoundationTrust, SIHMDS Acquired Genom Lab, NHS North Thames Genom Lab Hub, London, England

[14] UCL, Dev Biol & Canc Dept, Great Ormond St Inst Child Hlth, London, England

[15] NHS Fdn Trust, Great Ormond St Hosp Children, Dept Histopathol, London, England

[16] Cambridge Univ Hosp NHS Fdn Trust, Dept Neuropathol, Cambridge, England

[17] Alder Hey Childrens NHS Fdn Trust, Dept Paediat Oncol, Liverpool, England

[18] Hosp Sick Children, Div Haematol Oncol, Dept Pediat, Toronto, ON, Canada

[19] Univ Toronto, Dept Lab Med & Pathobiol, Fac Med, Toronto, ON, Canada

[20] Cambridge Univ Hosp NHS Fdn Trust, Dept Paediat Haematol & Oncol, Cambridge, England

来源：

NEURO-ONCOLOGY ADVANCES | 2023年 / 5卷 / 01期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

HEAD-START-I; THAN; 3; YEARS; INTENSIVE CHEMOTHERAPY; ABUNDANT NEUROPIL; BRAIN-TUMORS; CHILDREN; CLUSTER; EXPRESSION; COMPRISE; FEATURES;

D O I：

10.1093/noajnl/vdad052

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Embryonal tumors with multilayered rosettes (ETMR) are rare but aggressive cancers, commonly occurring in children under 3 years of age. They are an under-recognized entity and the current World Health Organization (WHO) diagnostic evaluation can be challenging to implement in a timely manner to allow prompt treatment, particularly in resourcelimited healthcare settings. ETMRs also represent a therapeutic challenge as there are no uniform treatment protocols. Chemotherapy-only strategies may be employed aiming to avoid or delay the deleterious effects of radiation to the developing brain. Here, we describe 2 cases of ETMR from different healthcare settings, which were presented at the Society for Neuro-Oncology Pediatric Molecular Tumor Board Quarterly Series (March 2022) to highlight and discuss the challenges for timely diagnosis and management. These cases highlight the heterogeneous responses to treatment, which remain unpredictable based on current knowledge. One patient died despite use of multimodality therapy including surgery, intensive chemotherapy, and radiotherapy. The second patient is a longterm survivor, treated with chemotherapy only after surgery. We discuss the minimal set of key pathological and molecular findings required in order to establish the timely diagnosis of ETMR, the role of different therapies, and future perspectives on the management of this rare and aggressive condition, with the aim of improving clinical outcomes. © 2023 Authors. All rights reserved.

引用

页数：7

共 27 条

[21] A mouse model for embryonal tumors with multilayered rosettes uncovers the therapeutic potential of Sonic-hedgehog inhibitors [J].

Neumann, Julia E. ;

Wefers, Annika K. ;

Lambo, Sander ;

Bianchi, Edoardo ;

Bockstaller, Marie ;

Dorostkar, Mario M. ;

Meister, Valerie ;

Schindler, Pia ;

Korshunov, Andrey ;

von Hoff, Katja ;

Nowak, Johannes ;

Warmuth-Metz, Monika ;

Schneider, Marlon R. ;

Renner-Mueller, Ingrid ;

Merk, Daniel J. ;

Shakarami, Mehdi ;

Sharma, Tanvi ;

Chavez, Lukas ;

Glass, Rainer ;

Chan, Jennifer A. ;

Taketo, M. Mark ;

Neumann, Philipp ;

Kool, Marcel ;

Schueller, Ulrich .

NATURE MEDICINE, 2017, 23 (10) :1191-+

[22] DNA methylation profiling as a model for discovery and precision diagnostics in neuro-oncology [J].

Pratt, Drew ;

Sahm, Felix ;

Aldape, Kenneth .

NEURO-ONCOLOGY, 2021, 23 :S16-S29

[23] A C19MC-LIN28A-MYCN Oncogenic Circuit Driven by Hijacked Super-enhancers Is a Distinct Therapeutic Vulnerability in ETMRs: A Lethal Brain Tumor [J].

Sin-Chan, Patrick ;

Mumal, Iqra ;

Suwal, Tannu ;

Ho, Ben ;

Fan, Xiaolian ;

Singh, Irtisha ;

Du, Yuchen ;

Lu, Mei ;

Patel, Neilket ;

Torchia, Jonathon ;

Popovski, Dean ;

Fouladi, Maryam ;

Guilhamon, Paul ;

Hansford, Jordan R. ;

Leary, Sarah ;

Hoffman, Lindsey M. ;

Levy, Jean M. Mulcahy ;

Lassaletta, Alvaro ;

Solano-Paez, Palma ;

Rivas, Eloy ;

Reddy, Alyssa ;

Gillespie, G. Yancey ;

Gupta, Nalin ;

Van Meter, Timothy E. ;

Nakamura, Hideo ;

Wong, Tai-Tong ;

Ra, Young-Shin ;

Kim, Seung-Ki ;

Massimi, Luca ;

Grundy, Richard G. ;

Fangusaro, Jason ;

Johnston, Donna ;

Chan, Jennifer ;

Lafay-Cousin, Lucie ;

Hwang, Eugene I. ;

Wang, Yin ;

Catchpoole, Daniel ;

Michaud, Jean ;

Ellezam, Benjamin ;

Ramanujachar, Ramya ;

Lindsay, Holly ;

Taylor, Michael D. ;

Hawkins, Cynthia E. ;

Bouffet, Eric ;

Jabado, Nada ;

Singh, Sheila K. ;

Kleinman, Claudia L. ;

Barsyte-Lovejoy, Dalia ;

Li, Xiao-Nan ;

Dirks, Peter B. .

CANCER CELL, 2019, 36 (01) :51-+

[24] Molecular Classification and Management of Rare Pediatric Embryonal Brain Tumors [J].

Sin-Chan, Patrick ;

Li, Bryan K. ;

Ho, Ben ;

Fonseca, Adriana ;

Huang, Annie .

CURRENT ONCOLOGY REPORTS, 2018, 20 (09)

[25] CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity [J].

Spence, Tara ;

Sin-Chan, Patrick ;

Picard, Daniel ;

Barszczyk, Mark ;

Hoss, Katharina ;

Lu, Mei ;

Kim, Seung-Ki ;

Ra, Young-Shin ;

Nakamura, Hideo ;

Fangusaro, Jason ;

Hwang, Eugene ;

Kiehna, Erin ;

Toledano, Helen ;

Wang, Yin ;

Shi, Qing ;

Johnston, Donna ;

Michaud, Jean ;

La Spina, Milena ;

Buccoliero, Anna Maria ;

Adamek, Dariusz ;

Camelo-Piragua, Sandra ;

Collins, V. Peter ;

Jones, Chris ;

Kabbara, Nabil ;

Jurdi, Nawaf ;

Varlet, Pascale ;

Perry, Arie ;

Scharnhorst, David ;

Fan, Xing ;

Muraszko, Karin M. ;

Eberhart, Charles G. ;

Ng, Ho-Keung ;

Gururangan, Sridharan ;

Van Meter, Timothy ;

Remke, Marc ;

Lafay-Cousin, Lucie ;

Chan, Jennifer A. ;

Sirachainan, Nongnuch ;

Pomeroy, Scott L. ;

Clifford, Steven C. ;

Gajjar, Amar ;

Shago, Mary ;

Halliday, William ;

Taylor, Michael D. ;

Grundy, Richard ;

Lau, Ching C. ;

Phillips, Joanna ;

Bouffet, Eric ;

Dirks, Peter B. ;

Hawkins, Cynthia E. .

ACTA NEUROPATHOLOGICA, 2014, 128 (02) :291-303

[26] Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology [J].

Sturm, Dominik ;

Capper, David ;

Andreiuolo, Felipe ;

Gessi, Marco ;

Koelsche, Christian ;

Reinhardt, Annekathrin ;

Sievers, Philipp ;

Wefers, Annika K. ;

Ebrahimi, Azadeh ;

Suwala, Abigail K. ;

Gielen, Gerrit H. ;

Sill, Martin ;

Schrimpf, Daniel ;

Stichel, Damian ;

Hovestadt, Volker ;

Daenekas, Bjarne ;

Rode, Agata ;

Hamelmann, Stefan ;

Previti, Christopher ;

Jaeger, Natalie ;

Buchhalter, Ivo ;

Blattner-Johnson, Mirjam ;

Jones, Barbara C. ;

Warmuth-Metz, Monika ;

Bison, Brigitte ;

Grund, Kerstin ;

Sutter, Christian ;

Hirsch, Steffen ;

Dikow, Nicola ;

Hasselblatt, Martin ;

Schueller, Ulrich ;

Gerber, Nicolas U. ;

White, Christine L. ;

Buntine, Molly K. ;

Kinross, Kathryn ;

Algar, Elizabeth M. ;

Hansford, Jordan R. ;

Gottardo, Nicholas G. ;

Driever, Pablo Hernaiz ;

Gnekow, Astrid ;

Witt, Olaf ;

Mueller, Hermann L. ;

Calaminus, Gabriele ;

Fleischhack, Gudrun ;

Kordes, Uwe ;

Mynarek, Martin ;

Rutkowski, Stefan ;

Fruehwald, Michael C. ;

Kramm, Christof M. ;

von Deimling, Andreas .

NATURE MEDICINE, 2023, 29 (04) :917-926

[27] Therapeutic implications of improved molecular diagnostics for rare CNS embryonal tumor entities: results of an international, retrospective study [J].

von Hoff, Katja ;

Haberler, Christine ;

Schmitt-Hoffner, Felix ;

Schepke, Elizabeth ;

de Rojas, Teresa ;

Jacobs, Sandra ;

Zapotocky, Michal ;

Sumerauer, David ;

Perek-Polnik, Marta ;

Dufour, Christelle ;

van Vuurden, Dannis ;

Slavc, Irene ;

Gojo, Johannes ;

Pickles, Jessica C. ;

Gerber, Nicolas U. ;

Massimino, Maura ;

Gil-da-Costa, Maria Joao ;

Garami, Miklos ;

Kumirova, Ella ;

Sehested, Astrid ;

Scheie, David ;

Cruz, Ofelia ;

Moreno, Lucas ;

Cho, Jaeho ;

Zeller, Bernward ;

Bovenschen, Niels ;

Grotzer, Michael ;

Alderete, Daniel ;

Snuderl, Matija ;

Zheludkova, Olga ;

Golanov, Andrey ;

Okonechnikov, Konstantin ;

Mynarek, Martin ;

Juhnke, Bjoern Ole ;

Rutkowski, Stefan ;

Schuller, Ulrich ;

Pizer, Barry ;

von Zezschwitz, Barbara ;

Kwiecien, Robert ;

Wechsung, Maximilian ;

Konietschke, Frank ;

Hwang, Eugene, I ;

Sturm, Dominik ;

Pfister, Stefan M. ;

von Deimling, Andreas ;

Rushing, Elisabeth J. ;

Ryzhova, Marina ;

Hauser, Peter ;

Lastowska, Maria ;

Wesseling, Pieter .

NEURO-ONCOLOGY, 2021, 23 (09) :1597-1611

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