Spindle Cell/Sclerosing Rhabdomyosarcoma With PAX8::PPARG Fusion

Dinesh Rakheja; Jason Y. Park; Mustafa Alhasan; Naseem Uddin

doi:10.1177/10668969221095170

Spindle Cell/Sclerosing Rhabdomyosarcoma With PAX8::PPARG Fusion

Dinesh Rakheja, Jason Y. Park, Mustafa Alhasan, Naseem Uddin

Research output: Contribution to journal › Article › peer-review

Abstract

The spindle cell/sclerosing subtype of rhabdomyosarcoma is classified based on genetic features into the three categories of MYOD1-mutated, gene fusion-driven, and a subset without a currently identified genetic driver event. The gene fusion-driven spindle cell/sclerosing rhabdomyosarcomas are heterogenous and characterized by increasing numbers of gene fusions, the most common gene partners being VGLL2, NCOA2, and TFCP2. Here we report a spindle cell/sclerosing rhabdomyosarcoma that arose in the orbit of a 4-year-old male. This tumor harbored a unique PAX8::PPARG fusion. PAX8::PPARG fusions have previously only been described in follicular thyroid carcinoma and follicular variant of papillary thyroid carcinoma. Our report adds to the growing number of gene fusions in spindle cell/sclerosing rhabdomyosarcomas.

Original language	English (US)
Journal	International Journal of Surgical Pathology
DOIs	https://doi.org/10.1177/10668969221095170
State	Accepted/In press - 2022

Keywords

PAX8::PPARG
gene fusion
PAX8
PPARG
PPARγ
spindle cell/sclerosing rhabdomyosarcoma

ASJC Scopus subject areas

Surgery
Anatomy
Pathology and Forensic Medicine

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10.1177/10668969221095170

Cite this

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title = "Spindle Cell/Sclerosing Rhabdomyosarcoma With PAX8::PPARG Fusion",

abstract = "The spindle cell/sclerosing subtype of rhabdomyosarcoma is classified based on genetic features into the three categories of MYOD1-mutated, gene fusion-driven, and a subset without a currently identified genetic driver event. The gene fusion-driven spindle cell/sclerosing rhabdomyosarcomas are heterogenous and characterized by increasing numbers of gene fusions, the most common gene partners being VGLL2, NCOA2, and TFCP2. Here we report a spindle cell/sclerosing rhabdomyosarcoma that arose in the orbit of a 4-year-old male. This tumor harbored a unique PAX8::PPARG fusion. PAX8::PPARG fusions have previously only been described in follicular thyroid carcinoma and follicular variant of papillary thyroid carcinoma. Our report adds to the growing number of gene fusions in spindle cell/sclerosing rhabdomyosarcomas.",

keywords = "PAX8::PPARG, gene fusion, PAX8, PPARG, PPARγ, spindle cell/sclerosing rhabdomyosarcoma",

author = "Dinesh Rakheja and Park, {Jason Y.} and Mustafa Alhasan and Naseem Uddin",

note = "Funding Information: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by the Cancer Prevention and Research Institute of Texas (grant number RP180319). Publisher Copyright: {\textcopyright} The Author(s) 2022.",

year = "2022",

doi = "10.1177/10668969221095170",

language = "English (US)",

journal = "International Journal of Surgical Pathology",

issn = "1066-8969",

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AU - Rakheja, Dinesh

AU - Park, Jason Y.

AU - Alhasan, Mustafa

AU - Uddin, Naseem

N1 - Funding Information: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by the Cancer Prevention and Research Institute of Texas (grant number RP180319). Publisher Copyright: © The Author(s) 2022.

PY - 2022

Y1 - 2022

N2 - The spindle cell/sclerosing subtype of rhabdomyosarcoma is classified based on genetic features into the three categories of MYOD1-mutated, gene fusion-driven, and a subset without a currently identified genetic driver event. The gene fusion-driven spindle cell/sclerosing rhabdomyosarcomas are heterogenous and characterized by increasing numbers of gene fusions, the most common gene partners being VGLL2, NCOA2, and TFCP2. Here we report a spindle cell/sclerosing rhabdomyosarcoma that arose in the orbit of a 4-year-old male. This tumor harbored a unique PAX8::PPARG fusion. PAX8::PPARG fusions have previously only been described in follicular thyroid carcinoma and follicular variant of papillary thyroid carcinoma. Our report adds to the growing number of gene fusions in spindle cell/sclerosing rhabdomyosarcomas.

AB - The spindle cell/sclerosing subtype of rhabdomyosarcoma is classified based on genetic features into the three categories of MYOD1-mutated, gene fusion-driven, and a subset without a currently identified genetic driver event. The gene fusion-driven spindle cell/sclerosing rhabdomyosarcomas are heterogenous and characterized by increasing numbers of gene fusions, the most common gene partners being VGLL2, NCOA2, and TFCP2. Here we report a spindle cell/sclerosing rhabdomyosarcoma that arose in the orbit of a 4-year-old male. This tumor harbored a unique PAX8::PPARG fusion. PAX8::PPARG fusions have previously only been described in follicular thyroid carcinoma and follicular variant of papillary thyroid carcinoma. Our report adds to the growing number of gene fusions in spindle cell/sclerosing rhabdomyosarcomas.

KW - PAX8::PPARG

KW - gene fusion

KW - PAX8

KW - PPARG

KW - PPARγ

KW - spindle cell/sclerosing rhabdomyosarcoma

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JO - International Journal of Surgical Pathology

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Spindle Cell/Sclerosing Rhabdomyosarcoma With PAX8::PPARG Fusion

Abstract

Keywords

ASJC Scopus subject areas

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