MYOD1 as a prognostic indicator in rhabdomyosarcoma.
MYOD1
immunohistochemistry
rhabdomyosarcoma
spindle cell sclerosing
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
revised:
22
03
2021
received:
19
01
2021
accepted:
09
04
2021
pubmed:
30
4
2021
medline:
17
3
2022
entrez:
29
4
2021
Statut:
ppublish
Résumé
Rhabdomyosarcoma (RMS) is characterized by the expression of the myogenic regulatory protein MYOD1. Histologic types include alveolar, embryonal (ERMS), and spindle cell sclerosing RMS (SRMS). SRMS harbors MYOD1 mutations in a subset of adult cases in association with poor prognosis. To study the level of MYOD1 protein expression and its clinical significance, we have analyzed variable numbers of pediatric (<18 years of age) and adult (age range ≥18 to 35 years) ERMS and SRMS cases for presence or absence of MYOD1 immunoreactivity in correlation with clinical outcome and MYOD1 L122R mutations. Lack of MYOD1 immunoreactivity, identified in 23.8% of nonalveolar RMS (non-ARMS) cases, was more prevalent in SRMS (44%) than ERMS (17.2%) and was significantly associated with low overall survival and unfavorable tumor sites (p < .05). Lack of MYOD1 immunoreactivity was not associated with MYOD1 L122R mutations, which were identified in 3/37 (8%) cases including only two of 31 (6.5%) pediatric cases, one of 11 or 9% pediatric SRMS, and one case of infant ERMS. These studies highlight the prognostic role of MYOD1 in non-ARMS. Lack of MYOD1 immunoreactivity is associated with poor prognosis in ERMS and SRMS. MYOD1 gene mutations are generally infrequent in pediatric RMS. Although mutations are predominant in SRMS, they may exceptionally occur in infantile ERMS.
Sections du résumé
BACKGROUND/OBJECTIVES
Rhabdomyosarcoma (RMS) is characterized by the expression of the myogenic regulatory protein MYOD1. Histologic types include alveolar, embryonal (ERMS), and spindle cell sclerosing RMS (SRMS). SRMS harbors MYOD1 mutations in a subset of adult cases in association with poor prognosis.
DESIGN/METHODS
To study the level of MYOD1 protein expression and its clinical significance, we have analyzed variable numbers of pediatric (<18 years of age) and adult (age range ≥18 to 35 years) ERMS and SRMS cases for presence or absence of MYOD1 immunoreactivity in correlation with clinical outcome and MYOD1 L122R mutations.
RESULTS
Lack of MYOD1 immunoreactivity, identified in 23.8% of nonalveolar RMS (non-ARMS) cases, was more prevalent in SRMS (44%) than ERMS (17.2%) and was significantly associated with low overall survival and unfavorable tumor sites (p < .05). Lack of MYOD1 immunoreactivity was not associated with MYOD1 L122R mutations, which were identified in 3/37 (8%) cases including only two of 31 (6.5%) pediatric cases, one of 11 or 9% pediatric SRMS, and one case of infant ERMS.
CONCLUSION
These studies highlight the prognostic role of MYOD1 in non-ARMS. Lack of MYOD1 immunoreactivity is associated with poor prognosis in ERMS and SRMS. MYOD1 gene mutations are generally infrequent in pediatric RMS. Although mutations are predominant in SRMS, they may exceptionally occur in infantile ERMS.
Identifiants
pubmed: 33913590
doi: 10.1002/pbc.29085
pmc: PMC9907363
mid: NIHMS1866377
doi:
Substances chimiques
MyoD Protein
0
MyoD1 myogenic differentiation protein
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e29085Subventions
Organisme : Intramural NIH HHS
ID : ZIA BC011387
Pays : United States
Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
Mod Pathol. 2019 Jan;32(1):27-36
pubmed: 30181563
Proc Natl Acad Sci U S A. 2008 May 6;105(18):6584-9
pubmed: 18451027
Cancer. 1995 Sep 15;76(6):1073-85
pubmed: 8625211
EBioMedicine. 2017 Feb;16:87-100
pubmed: 28131747
Oral Oncol. 2016 Jul;58:e6-e11
pubmed: 27261172
Arch Pathol Lab Med. 2015 Oct;139(10):1281-7
pubmed: 25989287
Nat Genet. 2014 Jun;46(6):595-600
pubmed: 24793135
Nature. 1990 Jun 28;345(6278):813-5
pubmed: 2359457
Stem Cells. 2017 Aug;35(8):1958-1972
pubmed: 28589555
Pediatr Dev Pathol. 2004 Nov-Dec;7(6):583-94
pubmed: 15630526
Am J Surg Pathol. 2016 Feb;40(2):224-35
pubmed: 26501226
Genes Chromosomes Cancer. 2014 Sep;53(9):779-87
pubmed: 24824843
Mod Pathol. 2016 Dec;29(12):1532-1540
pubmed: 27562493
Am J Surg Pathol. 2006 Aug;30(8):962-8
pubmed: 16861966
Oncologist. 1999;4(1):34-44
pubmed: 10337369
Oral Oncol. 2016 Oct;61:89-97
pubmed: 27688110
Pediatr Blood Cancer. 2019 Jun;66(6):e27652
pubmed: 30762282
Virchows Arch. 2006 Nov;449(5):554-60
pubmed: 17013628
Proc Natl Acad Sci U S A. 1992 Oct 1;89(19):9010-4
pubmed: 1329087
Pathology. 2017 Apr;49(3):238-246
pubmed: 28256213
J Cell Physiol. 2020 Oct;235(10):6625-6636
pubmed: 31985035
Am J Surg Pathol. 2005 Aug;29(8):1106-13
pubmed: 16006807
Gynecol Oncol. 2012 Sep;126(3):351-6
pubmed: 22609112
J Pathol. 2014 Feb;232(3):300-7
pubmed: 24272621
Mod Pathol. 2001 May;14(5):506-14
pubmed: 11353062
Virchows Arch. 2000 Apr;436(4):305-11
pubmed: 10834531