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Genomic diagnostics leading to the identification of a TFG-ROS1 fusion in a child with possible atypical meningioma

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@article{de69d4dc29fd492ba4382a97a0a0b5d1,
title = "Genomic diagnostics leading to the identification of a TFG-ROS1 fusion in a child with possible atypical meningioma",
abstract = "Meningiomas are rare in children. They are highly complex, harboring unique clinical and pathological characteristics, and many occur in patients with neurofibromatosis type 2. Hereby, we present a case of a two-year-old boy presented with a diagnostically challenging intraventricular tumor. It was incompletely resected 6 times over 14 months but kept progressing and was ultimately deemed unresectable. Histologically, the tumor was initially classified as schwannoma, but extensive international review concluded it was most likely an atypical meningioma, WHO grade II. Comprehensive genomic profiling revealed a TFG-ROS1 fusion, suggesting that ROS1-signaling pathway alterations were driving the tumor growth. In light of this new information, the possibility of a diagnosis of inflammatory myofibroblastic tumor was considered; however the histopathological results were not conclusive. This specific molecular finding allowed the potential use of precision medicine and the patient was enrolled in the AcS{\'e} phase 2 trial with crizotinib (NCT02034981), leading to a prolonged partial tumor response which is persisting since 14 months. This case highlights the value of precision cancer medicine in children.",
keywords = "Child, Preschool, Diagnosis, Differential, Gene Fusion, Humans, Male, Meningeal Neoplasms, Meningioma, Protein-Tyrosine Kinases, Proto-Oncogene Proteins, Pyrazoles, Pyridines, Transforming Growth Factors, Case Reports, Journal Article",
author = "Maria Rossing and Yde, {Christina Westmose} and Astrid Sehested and Olga {\O}strup and David Scheie and Volodia Dangouloff-Ros and Birgit Geoerger and Gilles Vassal and Karsten Nysom",
note = "Copyright {\circledC} 2017 The Authors. Published by Elsevier Inc. All rights reserved.",
year = "2017",
month = "4",
doi = "10.1016/j.cancergen.2017.03.005",
language = "English",
volume = "212-213",
pages = "32--37",
journal = "Cancer genetics",
issn = "2210-7762",
publisher = "Elsevier Inc",

}

RIS

TY - JOUR

T1 - Genomic diagnostics leading to the identification of a TFG-ROS1 fusion in a child with possible atypical meningioma

AU - Rossing, Maria

AU - Yde, Christina Westmose

AU - Sehested, Astrid

AU - Østrup, Olga

AU - Scheie, David

AU - Dangouloff-Ros, Volodia

AU - Geoerger, Birgit

AU - Vassal, Gilles

AU - Nysom, Karsten

N1 - Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

PY - 2017/4

Y1 - 2017/4

N2 - Meningiomas are rare in children. They are highly complex, harboring unique clinical and pathological characteristics, and many occur in patients with neurofibromatosis type 2. Hereby, we present a case of a two-year-old boy presented with a diagnostically challenging intraventricular tumor. It was incompletely resected 6 times over 14 months but kept progressing and was ultimately deemed unresectable. Histologically, the tumor was initially classified as schwannoma, but extensive international review concluded it was most likely an atypical meningioma, WHO grade II. Comprehensive genomic profiling revealed a TFG-ROS1 fusion, suggesting that ROS1-signaling pathway alterations were driving the tumor growth. In light of this new information, the possibility of a diagnosis of inflammatory myofibroblastic tumor was considered; however the histopathological results were not conclusive. This specific molecular finding allowed the potential use of precision medicine and the patient was enrolled in the AcSé phase 2 trial with crizotinib (NCT02034981), leading to a prolonged partial tumor response which is persisting since 14 months. This case highlights the value of precision cancer medicine in children.

AB - Meningiomas are rare in children. They are highly complex, harboring unique clinical and pathological characteristics, and many occur in patients with neurofibromatosis type 2. Hereby, we present a case of a two-year-old boy presented with a diagnostically challenging intraventricular tumor. It was incompletely resected 6 times over 14 months but kept progressing and was ultimately deemed unresectable. Histologically, the tumor was initially classified as schwannoma, but extensive international review concluded it was most likely an atypical meningioma, WHO grade II. Comprehensive genomic profiling revealed a TFG-ROS1 fusion, suggesting that ROS1-signaling pathway alterations were driving the tumor growth. In light of this new information, the possibility of a diagnosis of inflammatory myofibroblastic tumor was considered; however the histopathological results were not conclusive. This specific molecular finding allowed the potential use of precision medicine and the patient was enrolled in the AcSé phase 2 trial with crizotinib (NCT02034981), leading to a prolonged partial tumor response which is persisting since 14 months. This case highlights the value of precision cancer medicine in children.

KW - Child, Preschool

KW - Diagnosis, Differential

KW - Gene Fusion

KW - Humans

KW - Male

KW - Meningeal Neoplasms

KW - Meningioma

KW - Protein-Tyrosine Kinases

KW - Proto-Oncogene Proteins

KW - Pyrazoles

KW - Pyridines

KW - Transforming Growth Factors

KW - Case Reports

KW - Journal Article

U2 - 10.1016/j.cancergen.2017.03.005

DO - 10.1016/j.cancergen.2017.03.005

M3 - Journal article

VL - 212-213

SP - 32

EP - 37

JO - Cancer genetics

JF - Cancer genetics

SN - 2210-7762

ER -

ID: 52348038