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SIX1 as a Novel Immunohistochemical Marker in the Differential Diagnosis of Rhabdomyosarcoma

Ehinger, Daniel LU orcid ; Frostberg, Hanna LU ; Larsson, Sofia and Gisselsson, David LU (2023) In Fetal and Pediatric Pathology 42(5). p.723-734
Abstract

Background: Differential diagnosis of rhabdomyosarcoma (RMS) is challenging. Sineoculis homeobox homolog 1 (SIX1) is an oncogene involved in skeletal muscle differentiation. We compared protein expression patterns of SIX1 in RMS and its most common differential diagnoses. Methods: SIX1 immunohistochemistry in 36 RMS and in 33 tumors from seven differential diagnostic subtypes were evaluated. The fraction of SIX1 positive tumor cells was scored by three independent observers. Results: A majority (75%) of the evaluated RMS expressed SIX1 in at least 50% of tumor cells and all except one RMS had more than 25% positive tumor cells. Neuroblastoma had less than 1% SIX1 positive tumor cells. Gonadoblastoma, malignant rhabdoid tumor, and Ewing... (More)

Background: Differential diagnosis of rhabdomyosarcoma (RMS) is challenging. Sineoculis homeobox homolog 1 (SIX1) is an oncogene involved in skeletal muscle differentiation. We compared protein expression patterns of SIX1 in RMS and its most common differential diagnoses. Methods: SIX1 immunohistochemistry in 36 RMS and in 33 tumors from seven differential diagnostic subtypes were evaluated. The fraction of SIX1 positive tumor cells was scored by three independent observers. Results: A majority (75%) of the evaluated RMS expressed SIX1 in at least 50% of tumor cells and all except one RMS had more than 25% positive tumor cells. Neuroblastoma had less than 1% SIX1 positive tumor cells. Gonadoblastoma, malignant rhabdoid tumor, and Ewing sarcoma had 10% or less positive tumor cells. Pleuropulmonary blastoma exhibited 26–50% positive tumor cells and synovial sarcoma >50% positive cells. Conclusion: SIX1 immunohistochemistry is positive in most RMS, and occasionally in some tumors within the differential diagnoses of RMS.

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author
; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
A-RMS, E-RMS, Rhabdomyosarcoma, SIX1
in
Fetal and Pediatric Pathology
volume
42
issue
5
pages
723 - 734
publisher
Taylor & Francis
external identifiers
  • pmid:37224459
  • scopus:85160254933
ISSN
1551-3815
DOI
10.1080/15513815.2023.2214806
language
English
LU publication?
yes
id
13b3a1c2-cb89-4413-b2fe-665552413c94
date added to LUP
2023-09-25 10:40:37
date last changed
2025-11-02 05:55:42
@article{13b3a1c2-cb89-4413-b2fe-665552413c94,
  abstract     = {{<p>Background: Differential diagnosis of rhabdomyosarcoma (RMS) is challenging. Sineoculis homeobox homolog 1 (SIX1) is an oncogene involved in skeletal muscle differentiation. We compared protein expression patterns of SIX1 in RMS and its most common differential diagnoses. Methods: SIX1 immunohistochemistry in 36 RMS and in 33 tumors from seven differential diagnostic subtypes were evaluated. The fraction of SIX1 positive tumor cells was scored by three independent observers. Results: A majority (75%) of the evaluated RMS expressed SIX1 in at least 50% of tumor cells and all except one RMS had more than 25% positive tumor cells. Neuroblastoma had less than 1% SIX1 positive tumor cells. Gonadoblastoma, malignant rhabdoid tumor, and Ewing sarcoma had 10% or less positive tumor cells. Pleuropulmonary blastoma exhibited 26–50% positive tumor cells and synovial sarcoma &gt;50% positive cells. Conclusion: SIX1 immunohistochemistry is positive in most RMS, and occasionally in some tumors within the differential diagnoses of RMS.</p>}},
  author       = {{Ehinger, Daniel and Frostberg, Hanna and Larsson, Sofia and Gisselsson, David}},
  issn         = {{1551-3815}},
  keywords     = {{A-RMS; E-RMS; Rhabdomyosarcoma; SIX1}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{723--734}},
  publisher    = {{Taylor & Francis}},
  series       = {{Fetal and Pediatric Pathology}},
  title        = {{SIX1 as a Novel Immunohistochemical Marker in the Differential Diagnosis of Rhabdomyosarcoma}},
  url          = {{http://dx.doi.org/10.1080/15513815.2023.2214806}},
  doi          = {{10.1080/15513815.2023.2214806}},
  volume       = {{42}},
  year         = {{2023}},
}