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

Maria Rossing; Christina Westmose Yde; Astrid Sehested; Olga Østrup; David Scheie; Volodia Dangouloff-Ros; Birgit Geoerger; Gilles Vassal; Karsten Nysom

doi:10.1016/j.cancergen.2017.03.005

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

Maria Rossing^*, Christina Westmose Yde, Astrid Sehested, Olga Østrup, David Scheie, Volodia Dangouloff-Ros, Birgit Geoerger, Gilles Vassal, Karsten Nysom

^*Corresponding author for this work

Department of Clinical Medicine

8 Citations (Scopus)

42 Downloads (Pure)

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 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.

Original language	English
Journal	Cancer genetics
Volume	212-213
Pages (from-to)	32-37
Number of pages	6
ISSN	0165-4608
DOIs	https://doi.org/10.1016/j.cancergen.2017.03.005
Publication status	Published - 2017

Keywords

crizotinib
fusion gene
meningioma
pediatric mesenchymal tumor
TFG-ROS1

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Cancer_Genetics_212-213_2017_Article_Genomic diagnostics leading to the identification of a TFG-ROS1 fusion in a child with possible atypical meningioma Final published version, 960 KBLicence: CC BY-NC-ND

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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 = "crizotinib, fusion gene, meningioma, pediatric mesenchymal tumor, TFG-ROS1",

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",

year = "2017",

doi = "10.1016/j.cancergen.2017.03.005",

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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

PY - 2017

Y1 - 2017

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 - crizotinib

KW - fusion gene

KW - meningioma

KW - pediatric mesenchymal tumor

KW - TFG-ROS1

U2 - 10.1016/j.cancergen.2017.03.005

DO - 10.1016/j.cancergen.2017.03.005

M3 - Journal article

C2 - 28449809

AN - SCOPUS:85018831129

SN - 2210-7762

VL - 212-213

SP - 32

EP - 37

JO - Cancer genetics and cytogenetics

JF - Cancer genetics and cytogenetics

ER -

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

Abstract

Keywords

UN SDGs

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