Skip to main content
Erschienen in: Child's Nervous System 6/2016

08.01.2016 | Case Report

Long-term survival of an infant with an atypical teratoid/rhabdoid tumor following subtotal resection and low-cumulative dose chemotherapy: a case report

verfasst von: Viktor Arnhold, Florian Oyen, Reinhard Schneppenheim, Hannes Haberl, Arend Koch, Michael C. Frühwald, Pablo Hernáiz Driever

Erschienen in: Child's Nervous System | Ausgabe 6/2016

Einloggen, um Zugang zu erhalten

Abstract

Introduction

Atypical teratoid/rhabdoid tumor (AT/RT) is an aggressive embryonal tumor of the central nervous system with a generally dismal prognosis, especially in patients younger than 12 months.

Discussion

We here describe the unusual case of an infant with AT/RT with long-term survival despite low-cumulative dose chemotherapy after subtotal resection. Due to a poor neurological situation and an unfavorable oncological prognosis, therapy was halted after two partial surgical resections and four of the nine chemotherapy courses recommended by the European Rhabdoid Registry, without the patient receiving either radiotherapy or high-dose chemotherapy. The patient is alive without evidence of disease 52 months after diagnosis.

Conclusion

This case report highlights that independent prognostic factors are urgently needed for optimizing treatment stratification and preventing overtreatment.
Literatur
1.
Zurück zum Zitat Hollmann TJ, Hornick JL (2011) INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol 35(10):e47–e63CrossRefPubMed Hollmann TJ, Hornick JL (2011) INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol 35(10):e47–e63CrossRefPubMed
2.
Zurück zum Zitat Wilson BG, Roberts CW (2011) SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer 11(7):481–492CrossRefPubMed Wilson BG, Roberts CW (2011) SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer 11(7):481–492CrossRefPubMed
3.
Zurück zum Zitat von Hoff K, Hinkes B, Dannenmann-Stern E, von Bueren AO, Warmuth-Metz M, Soerensen N et al (2011) Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database. Pediatr Blood Cancer 57(6):978–985CrossRef von Hoff K, Hinkes B, Dannenmann-Stern E, von Bueren AO, Warmuth-Metz M, Soerensen N et al (2011) Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database. Pediatr Blood Cancer 57(6):978–985CrossRef
4.
Zurück zum Zitat Woehrer A, Slavc I, Waldhoer T, Heinzl H, Zielonke N, Czech T et al (2010) Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996-2006. Cancer 116(24):5725–5732CrossRefPubMed Woehrer A, Slavc I, Waldhoer T, Heinzl H, Zielonke N, Czech T et al (2010) Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996-2006. Cancer 116(24):5725–5732CrossRefPubMed
5.
Zurück zum Zitat Slavc I, Chocholous M, Leiss U, Haberler C, Peyrl A, Azizi AA et al (2014) Atypical teratoid rhabdoid tumor: improved long-term survival with an intensive multimodal therapy and delayed radiotherapy. The Medical University of Vienna Experience 1992–2012. Cancer Med 3(1):91–100CrossRefPubMedPubMedCentral Slavc I, Chocholous M, Leiss U, Haberler C, Peyrl A, Azizi AA et al (2014) Atypical teratoid rhabdoid tumor: improved long-term survival with an intensive multimodal therapy and delayed radiotherapy. The Medical University of Vienna Experience 1992–2012. Cancer Med 3(1):91–100CrossRefPubMedPubMedCentral
6.
Zurück zum Zitat Zaky W, Dhall G, Ji L, Haley K, Allen J, Atlas M et al (2014) Intensive induction chemotherapy followed by myeloablative chemotherapy with autologous hematopoietic progenitor cell rescue for young children newly-diagnosed with central nervous system atypical teratoid/rhabdoid tumors: the Head Start III experience. Pediatr Blood Cancer 61(1):95–101CrossRefPubMed Zaky W, Dhall G, Ji L, Haley K, Allen J, Atlas M et al (2014) Intensive induction chemotherapy followed by myeloablative chemotherapy with autologous hematopoietic progenitor cell rescue for young children newly-diagnosed with central nervous system atypical teratoid/rhabdoid tumors: the Head Start III experience. Pediatr Blood Cancer 61(1):95–101CrossRefPubMed
7.
Zurück zum Zitat Seeringer A, Bartelheim K, Kerl K, Hasselblatt M, Leuschner I, Rutkowski S et al (2014) Feasibility of intensive multimodal therapy in infants affected by rhabdoid tumors—experience of the EU-RHAB registry. Klin Padiatr 226(3):143–148CrossRefPubMed Seeringer A, Bartelheim K, Kerl K, Hasselblatt M, Leuschner I, Rutkowski S et al (2014) Feasibility of intensive multimodal therapy in infants affected by rhabdoid tumors—experience of the EU-RHAB registry. Klin Padiatr 226(3):143–148CrossRefPubMed
8.
Zurück zum Zitat Benesch M, Bartelheim K, Fleischhack G, Gruhn B, Schlegel PG, Witt O et al (2014) High-dose chemotherapy (HDCT) with auto-SCT in children with atypical teratoid/rhabdoid tumors (AT/RT): a report from the European Rhabdoid Registry (EU-RHAB). Bone Marrow Transplant 49(3):370–375CrossRefPubMed Benesch M, Bartelheim K, Fleischhack G, Gruhn B, Schlegel PG, Witt O et al (2014) High-dose chemotherapy (HDCT) with auto-SCT in children with atypical teratoid/rhabdoid tumors (AT/RT): a report from the European Rhabdoid Registry (EU-RHAB). Bone Marrow Transplant 49(3):370–375CrossRefPubMed
9.
Zurück zum Zitat Chi SN, Zimmerman MA, Yao X, Cohen KJ, Burger P, Biegel JA et al (2009) Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol 27(3):385–389CrossRefPubMedPubMedCentral Chi SN, Zimmerman MA, Yao X, Cohen KJ, Burger P, Biegel JA et al (2009) Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol 27(3):385–389CrossRefPubMedPubMedCentral
10.
Zurück zum Zitat Finkelstein-Shechter T, Gassas A, Mabbott D, Huang A, Bartels U, Tabori U et al (2010) Atypical teratoid or rhabdoid tumors: improved outcome with high-dose chemotherapy. J Pediatr Hematol Oncol 32(5):e182–e186CrossRefPubMed Finkelstein-Shechter T, Gassas A, Mabbott D, Huang A, Bartels U, Tabori U et al (2010) Atypical teratoid or rhabdoid tumors: improved outcome with high-dose chemotherapy. J Pediatr Hematol Oncol 32(5):e182–e186CrossRefPubMed
11.
Zurück zum Zitat Park ES, Sung KW, Baek HJ, Park KD, Park HJ, Won SC et al (2012) Tandem high-dose chemotherapy and autologous stem cell transplantation in young children with atypical teratoid/rhabdoid tumor of the central nervous system. J Korean Med Sci 27(2):135–140CrossRefPubMedPubMedCentral Park ES, Sung KW, Baek HJ, Park KD, Park HJ, Won SC et al (2012) Tandem high-dose chemotherapy and autologous stem cell transplantation in young children with atypical teratoid/rhabdoid tumor of the central nervous system. J Korean Med Sci 27(2):135–140CrossRefPubMedPubMedCentral
12.
Zurück zum Zitat Bouvier C, De Paula AM, Fernandez C, Quilichini B, Scavarda D, Gentet JC et al (2008) Atypical teratoid/rhabdoid tumour: 7-year event-free survival with gross total resection and radiotherapy in a 7-year-old boy. Childs Nerv Syst 24(1):143–147CrossRefPubMed Bouvier C, De Paula AM, Fernandez C, Quilichini B, Scavarda D, Gentet JC et al (2008) Atypical teratoid/rhabdoid tumour: 7-year event-free survival with gross total resection and radiotherapy in a 7-year-old boy. Childs Nerv Syst 24(1):143–147CrossRefPubMed
13.
Zurück zum Zitat Gidwani P, Levy A, Goodrich J, Weidenheim K, Kolb EA (2008) Successful outcome with tandem myeloablative chemotherapy and autologous peripheral blood stem cell transplants in a patient with atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol 88(2):211–215CrossRefPubMed Gidwani P, Levy A, Goodrich J, Weidenheim K, Kolb EA (2008) Successful outcome with tandem myeloablative chemotherapy and autologous peripheral blood stem cell transplants in a patient with atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol 88(2):211–215CrossRefPubMed
14.
Zurück zum Zitat Modena P, Sardi I, Brenca M, Giunti L, Buccoliero AM, Pollo B et al (2013) Case report: long-term survival of an infant syndromic patient affected by atypical teratoid-rhabdoid tumor. BMC Cancer 13:100CrossRefPubMedPubMedCentral Modena P, Sardi I, Brenca M, Giunti L, Buccoliero AM, Pollo B et al (2013) Case report: long-term survival of an infant syndromic patient affected by atypical teratoid-rhabdoid tumor. BMC Cancer 13:100CrossRefPubMedPubMedCentral
15.
Zurück zum Zitat Dufour C, Beaugrand A, Le Deley MC, Bourdeaut F, Andre N, Leblond P et al (2012) Clinicopathologic prognostic factors in childhood atypical teratoid and rhabdoid tumor of the central nervous system: a multicenter study. Cancer 118(15):3812–3821CrossRefPubMed Dufour C, Beaugrand A, Le Deley MC, Bourdeaut F, Andre N, Leblond P et al (2012) Clinicopathologic prognostic factors in childhood atypical teratoid and rhabdoid tumor of the central nervous system: a multicenter study. Cancer 118(15):3812–3821CrossRefPubMed
16.
Zurück zum Zitat Bourdeaut F, Lequin D, Brugieres L, Reynaud S, Dufour C, Doz F et al (2011) Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res 17(1):31–38CrossRefPubMed Bourdeaut F, Lequin D, Brugieres L, Reynaud S, Dufour C, Doz F et al (2011) Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res 17(1):31–38CrossRefPubMed
17.
Zurück zum Zitat Sevenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O (1999) Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 65(5):1342–1348CrossRefPubMedPubMedCentral Sevenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O (1999) Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 65(5):1342–1348CrossRefPubMedPubMedCentral
18.
Zurück zum Zitat Torchia J, Picard D, Lafay-Cousin L, Hawkins CE, Kim SK, Letourneau L et al (2015) Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis. Lancet Oncol 16(5):569–582CrossRefPubMed Torchia J, Picard D, Lafay-Cousin L, Hawkins CE, Kim SK, Letourneau L et al (2015) Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis. Lancet Oncol 16(5):569–582CrossRefPubMed
Metadaten
Titel
Long-term survival of an infant with an atypical teratoid/rhabdoid tumor following subtotal resection and low-cumulative dose chemotherapy: a case report
verfasst von
Viktor Arnhold
Florian Oyen
Reinhard Schneppenheim
Hannes Haberl
Arend Koch
Michael C. Frühwald
Pablo Hernáiz Driever
Publikationsdatum
08.01.2016
Verlag
Springer Berlin Heidelberg
Erschienen in
Child's Nervous System / Ausgabe 6/2016
Print ISSN: 0256-7040
Elektronische ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-015-2999-5

Weitere Artikel der Ausgabe 6/2016

Child's Nervous System 6/2016 Zur Ausgabe

Update Chirurgie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

S3-Leitlinie „Diagnostik und Therapie des Karpaltunnelsyndroms“

CME: 2 Punkte

Prof. Dr. med. Gregor Antoniadis Das Karpaltunnelsyndrom ist die häufigste Kompressionsneuropathie peripherer Nerven. Obwohl die Anamnese mit dem nächtlichen Einschlafen der Hand (Brachialgia parästhetica nocturna) sehr typisch ist, ist eine klinisch-neurologische Untersuchung und Elektroneurografie in manchen Fällen auch eine Neurosonografie erforderlich. Im Anfangsstadium sind konservative Maßnahmen (Handgelenksschiene, Ergotherapie) empfehlenswert. Bei nicht Ansprechen der konservativen Therapie oder Auftreten von neurologischen Ausfällen ist eine Dekompression des N. medianus am Karpaltunnel indiziert.

Prof. Dr. med. Gregor Antoniadis
Berufsverband der Deutschen Chirurgie e.V.

S2e-Leitlinie „Distale Radiusfraktur“

CME: 2 Punkte

Dr. med. Benjamin Meyknecht, PD Dr. med. Oliver Pieske Das Webinar S2e-Leitlinie „Distale Radiusfraktur“ beschäftigt sich mit Fragen und Antworten zu Diagnostik und Klassifikation sowie Möglichkeiten des Ausschlusses von Zusatzverletzungen. Die Referenten erläutern, welche Frakturen konservativ behandelt werden können und wie. Das Webinar beantwortet die Frage nach aktuellen operativen Therapiekonzepten: Welcher Zugang, welches Osteosynthesematerial? Auf was muss bei der Nachbehandlung der distalen Radiusfraktur geachtet werden?

PD Dr. med. Oliver Pieske
Dr. med. Benjamin Meyknecht
Berufsverband der Deutschen Chirurgie e.V.

S1-Leitlinie „Empfehlungen zur Therapie der akuten Appendizitis bei Erwachsenen“

CME: 2 Punkte

Dr. med. Mihailo Andric
Inhalte des Webinars zur S1-Leitlinie „Empfehlungen zur Therapie der akuten Appendizitis bei Erwachsenen“ sind die Darstellung des Projektes und des Erstellungswegs zur S1-Leitlinie, die Erläuterung der klinischen Relevanz der Klassifikation EAES 2015, die wissenschaftliche Begründung der wichtigsten Empfehlungen und die Darstellung stadiengerechter Therapieoptionen.

Dr. med. Mihailo Andric
Berufsverband der Deutschen Chirurgie e.V.