Cytomorphologic Spectrum of SMARCB1-Deficient Soft Tissue Neoplasms.
Cytology
Epithelioid
Fine-needle aspiration
INI1
Immunohistochemistry
Rhabdoid
SMARCB1
SWI/SNF complex
Sarcoma
Journal
American journal of clinical pathology
ISSN: 1943-7722
Titre abrégé: Am J Clin Pathol
Pays: England
ID NLM: 0370470
Informations de publication
Date de publication:
06 07 2021
06 07 2021
Historique:
pubmed:
21
2
2021
medline:
27
8
2021
entrez:
20
2
2021
Statut:
ppublish
Résumé
The SWI/SNF complex core subunit SMARCB1 is inactivated in a variety of neoplasms that share characteristic "rhabdoid" cytomorphology. The aim of this study was to evaluate SMARCB1-deficient soft tissue neoplasms on cytology to identify diagnostic clues. Eleven SMARCB1-deficient tumors, including six epithelioid sarcomas, three malignant rhabdoid tumors, one epithelioid malignant peripheral nerve sheath tumor (MPNST), and one poorly differentiated chordoma with fine-needle aspiration (FNA), serous effusion, or touch prep (TP) from two institutions, were included. Targeted next-generation sequencing (NGS) was performed in two cases. Evaluation of FNA (n = 4), effusion (n = 4), and TP (n = 3) in nine adult and two pediatric patients demonstrated cellular samples (n = 11), epithelioid cells with rhabdoid morphology (n = 9), eccentrically located nuclei with prominent nucleoli (n = 7), and cytoplasmic bodies (n = 4); two patients were diagnosed on FNA with cell block. Immunohistochemistry (IHC) demonstrated SMARCB1 loss in all cases and keratin and/or EMA expression in all but the epithelioid MPNST; NGS identified SMARCB1 inactivation in both cases. SMARCB1-deficient soft tissue neoplasms comprise a variety of tumors with epithelioid morphology and frequent expression of keratin and/or EMA. Recognition of characteristic rhabdoid morphology on cytology can prompt IHC and/or NGS testing for SMARCB1 deficiency and help establish the diagnosis.
Identifiants
pubmed: 33608696
pii: 6145292
doi: 10.1093/ajcp/aqaa223
pmc: PMC8259500
doi:
Substances chimiques
SMARCB1 Protein
0
SMARCB1 protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
229-245Subventions
Organisme : NCI NIH HHS
ID : K08 CA241085
Pays : United States
Informations de copyright
© American Society for Clinical Pathology, 2021. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
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