Ewing sarcoma in a child with neurofibromatosis type 1

Karen S. Fernandez; Michelle L. Turski; Avanthi Tayi Shah; Boris C. Bastian; Andrew Horvai; Steven Hardee; E. Alejandro Sweet-Cordero

doi:10.1101/mcs.a004580

Ewing sarcoma in a child with neurofibromatosis type 1

Karen S. Fernandez, Michelle L. Turski, Avanthi Tayi Shah, Boris C. Bastian, Andrew Horvai, Steven Hardee, E. Alejandro Sweet-Cordero

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Abstract

We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests that activation of the Ras pathway contributed to its evolution. Review of available public data suggests that secondary mutations in the Ras pathway are found in ∼3% of ESs. This case suggests that Ras pathway activation may play a role in tumor progression in a subset of ESs.

Original language	English (US)
Article number	a004580
Journal	Cold Spring Harbor Molecular Case Studies
Volume	5
Issue number	5
DOIs	https://doi.org/10.1101/mcs.a004580
State	Published - 2019
Externally published	Yes

ASJC Scopus subject areas

General Medicine

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title = "Ewing sarcoma in a child with neurofibromatosis type 1",

abstract = "We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests that activation of the Ras pathway contributed to its evolution. Review of available public data suggests that secondary mutations in the Ras pathway are found in ∼3% of ESs. This case suggests that Ras pathway activation may play a role in tumor progression in a subset of ESs.",

author = "Fernandez, {Karen S.} and Turski, {Michelle L.} and Shah, {Avanthi Tayi} and Bastian, {Boris C.} and Andrew Horvai and Steven Hardee and {Alejandro Sweet-Cordero}, E.",

note = "Publisher Copyright: {\textcopyright} 2019 Fernandez et al. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.",

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T1 - Ewing sarcoma in a child with neurofibromatosis type 1

AU - Fernandez, Karen S.

AU - Turski, Michelle L.

AU - Shah, Avanthi Tayi

AU - Bastian, Boris C.

AU - Horvai, Andrew

AU - Hardee, Steven

AU - Alejandro Sweet-Cordero, E.

N1 - Publisher Copyright: © 2019 Fernandez et al. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.

PY - 2019

Y1 - 2019

N2 - We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests that activation of the Ras pathway contributed to its evolution. Review of available public data suggests that secondary mutations in the Ras pathway are found in ∼3% of ESs. This case suggests that Ras pathway activation may play a role in tumor progression in a subset of ESs.

AB - We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests that activation of the Ras pathway contributed to its evolution. Review of available public data suggests that secondary mutations in the Ras pathway are found in ∼3% of ESs. This case suggests that Ras pathway activation may play a role in tumor progression in a subset of ESs.

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Ewing sarcoma in a child with neurofibromatosis type 1

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