Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor

TY - JOUR

T1 - Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor

AU - Seeringer, Angela

AU - Reinhard, Harald

AU - Hasselblatt, Martin

AU - Schneppenheim, Reinhard

AU - Siebert, Reiner

AU - Bartelheim, Kerstin

AU - Leuschner, Ivo

AU - Frühwald, Michael C

N1 - Copyright © 2014 Elsevier Inc. All rights reserved.

PY - 2014/9/1

Y1 - 2014/9/1

N2 - Among infant malignancies, congenital tumors, especially those of the central nervous system (CNS), constitute a rather unique subgroup. Poor survival rates (28% in CNS tumors) may be attributed to the aggressive biology as well as specific therapeutic limitations innate to the young age of affected patients. Our patient developed synchronous congenital tumors: an atypical teratoid/rhabdoid tumor (AT/RT) localized in the right lateral ventricle of the brain and a malignant rhabdoid tumor (MRT) in the soft tissue of the right orbit. A de novo germline chromosomal deletion in 22q encompassing the SMARCB1 gene was detected, prompting the diagnosis of a de novo rhabdoid tumor predisposition syndrome 1 (RTPS1). The patient was reported to the European Rhabdoid Registry (EU-RHAB) and treated according to the Rhabdoid 2007 recommendation. Despite the very young age of the patient, the initially desperate situation of RTPS1, and the synchronous localization of congenital rhabdoid tumors, intensive chemotherapy was well tolerated; the child is still in complete remission 5 years following diagnosis. In conclusion, RTPS1 with congenital synchronous MRTs is not necessarily associated with a detrimental outcome. Intensive multidrug chemotherapy, including high dose chemotherapy, may be feasible and justified.

AB - Among infant malignancies, congenital tumors, especially those of the central nervous system (CNS), constitute a rather unique subgroup. Poor survival rates (28% in CNS tumors) may be attributed to the aggressive biology as well as specific therapeutic limitations innate to the young age of affected patients. Our patient developed synchronous congenital tumors: an atypical teratoid/rhabdoid tumor (AT/RT) localized in the right lateral ventricle of the brain and a malignant rhabdoid tumor (MRT) in the soft tissue of the right orbit. A de novo germline chromosomal deletion in 22q encompassing the SMARCB1 gene was detected, prompting the diagnosis of a de novo rhabdoid tumor predisposition syndrome 1 (RTPS1). The patient was reported to the European Rhabdoid Registry (EU-RHAB) and treated according to the Rhabdoid 2007 recommendation. Despite the very young age of the patient, the initially desperate situation of RTPS1, and the synchronous localization of congenital rhabdoid tumors, intensive chemotherapy was well tolerated; the child is still in complete remission 5 years following diagnosis. In conclusion, RTPS1 with congenital synchronous MRTs is not necessarily associated with a detrimental outcome. Intensive multidrug chemotherapy, including high dose chemotherapy, may be feasible and justified.

KW - Antineoplastic Agents

KW - Antineoplastic Combined Chemotherapy Protocols

KW - Brain Neoplasms

KW - Child, Preschool

KW - Chromosomal Proteins, Non-Histone

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 22

KW - Combined Modality Therapy

KW - DNA-Binding Proteins

KW - Female

KW - Humans

KW - Kidney Neoplasms

KW - Neoplasms, Multiple Primary

KW - Orbital Neoplasms

KW - Rhabdoid Tumor

KW - Survivors

KW - Teratoma

KW - Transcription Factors

U2 - 10.1016/j.cancergen.2014.06.028

DO - 10.1016/j.cancergen.2014.06.028

M3 - SCORING: Journal article

C2 - 25262118

VL - 207

SP - 429

EP - 433

JO - CANCER GENET-NY

JF - CANCER GENET-NY

SN - 2210-7762

IS - 9

ER -