Updates on WHO classification for small round cell tumors: Ewing sarcoma vs. everything else

Carina A. Dehner; Alexander J. Lazar; John S.A. Chrisinger

doi:10.1016/j.humpath.2024.01.007

Updates on WHO classification for small round cell tumors: Ewing sarcoma vs. everything else

Carina A. Dehner, Alexander J. Lazar, John S.A. Chrisinger

Pathology, Anatomical

Research output: Contribution to journal › Review article › peer-review

1 Scopus citations

Abstract

The WHO Classification of Soft Tissue and Bone Tumours currently recognizes four categories of undifferentiated small round cell sarcoma: Ewing sarcoma, round cell sarcoma with EWSR1-non-ETS fusions including NFATc2 and PATZ1, CIC-rearranged sarcoma, and sarcoma with BCOR genetic alterations. These neoplasms frequently pose significant diagnostic challenges due to rarity and overlapping morphologic and immunohistochemical findings. Further, molecular testing, with accompanying pitfalls, may be needed to establish a definitive diagnosis. This review summarizes the clinical, histologic, immunohistochemical, and molecular features of these neoplasms. In addition, differential diagnosis and areas of uncertainty and ongoing investigation are discussed.

Original language	English (US)
Journal	Human Pathology
DOIs	https://doi.org/10.1016/j.humpath.2024.01.007
State	Accepted/In press - 2024

Keywords

BCOR
CIC
Ewing sarcoma
Ewing-like
NFATc2
PATZ1
Review
Round cell

ASJC Scopus subject areas

Pathology and Forensic Medicine

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10.1016/j.humpath.2024.01.007

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title = "Updates on WHO classification for small round cell tumors: Ewing sarcoma vs. everything else",

abstract = "The WHO Classification of Soft Tissue and Bone Tumours currently recognizes four categories of undifferentiated small round cell sarcoma: Ewing sarcoma, round cell sarcoma with EWSR1-non-ETS fusions including NFATc2 and PATZ1, CIC-rearranged sarcoma, and sarcoma with BCOR genetic alterations. These neoplasms frequently pose significant diagnostic challenges due to rarity and overlapping morphologic and immunohistochemical findings. Further, molecular testing, with accompanying pitfalls, may be needed to establish a definitive diagnosis. This review summarizes the clinical, histologic, immunohistochemical, and molecular features of these neoplasms. In addition, differential diagnosis and areas of uncertainty and ongoing investigation are discussed.",

keywords = "BCOR, CIC, Ewing sarcoma, Ewing-like, NFATc2, PATZ1, Review, Round cell",

author = "Dehner, {Carina A.} and Lazar, {Alexander J.} and Chrisinger, {John S.A.}",

note = "Publisher Copyright: {\textcopyright} 2024 Elsevier Inc.",

year = "2024",

doi = "10.1016/j.humpath.2024.01.007",

language = "English (US)",

journal = "Human Pathology",

issn = "0046-8177",

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T1 - Updates on WHO classification for small round cell tumors

T2 - Ewing sarcoma vs. everything else

AU - Dehner, Carina A.

AU - Lazar, Alexander J.

AU - Chrisinger, John S.A.

PY - 2024

Y1 - 2024

N2 - The WHO Classification of Soft Tissue and Bone Tumours currently recognizes four categories of undifferentiated small round cell sarcoma: Ewing sarcoma, round cell sarcoma with EWSR1-non-ETS fusions including NFATc2 and PATZ1, CIC-rearranged sarcoma, and sarcoma with BCOR genetic alterations. These neoplasms frequently pose significant diagnostic challenges due to rarity and overlapping morphologic and immunohistochemical findings. Further, molecular testing, with accompanying pitfalls, may be needed to establish a definitive diagnosis. This review summarizes the clinical, histologic, immunohistochemical, and molecular features of these neoplasms. In addition, differential diagnosis and areas of uncertainty and ongoing investigation are discussed.

AB - The WHO Classification of Soft Tissue and Bone Tumours currently recognizes four categories of undifferentiated small round cell sarcoma: Ewing sarcoma, round cell sarcoma with EWSR1-non-ETS fusions including NFATc2 and PATZ1, CIC-rearranged sarcoma, and sarcoma with BCOR genetic alterations. These neoplasms frequently pose significant diagnostic challenges due to rarity and overlapping morphologic and immunohistochemical findings. Further, molecular testing, with accompanying pitfalls, may be needed to establish a definitive diagnosis. This review summarizes the clinical, histologic, immunohistochemical, and molecular features of these neoplasms. In addition, differential diagnosis and areas of uncertainty and ongoing investigation are discussed.

KW - BCOR

KW - CIC

KW - Ewing sarcoma

KW - Ewing-like

KW - NFATc2

KW - PATZ1

KW - Review

KW - Round cell

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DO - 10.1016/j.humpath.2024.01.007

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SN - 0046-8177

JO - Human Pathology

JF - Human Pathology

ER -

Updates on WHO classification for small round cell tumors: Ewing sarcoma vs. everything else

Abstract

Keywords

ASJC Scopus subject areas

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