Solitary fibrous tumors of the head and neck region revisited: a single-institution study of 20 cases and review of the literature.
Hum Pathol
; 99: 1-12, 2020 05.
Article
em En
| MEDLINE
| ID: mdl-32217090
ABSTRACT
A solitary fibrous tumor (SFT) is a rare, NAB2-STAT6 fusion gene-associated mesenchymal neoplasm. It most commonly arises in the pleural site, but it can occur at many other sites, and rarely also in the head and neck (H&N) region. STFs may show many growth patterns and therefore can be easily mistaken for other more common H&N spindle cell or epithelial lesions. In this study, we present our experience in the diagnosis of 20 cases of SFT in the H&N region and discuss their most notable mimickers. In all cases, STAT6 expression was found positive by immunohistochemistry, and the NAB2-STAT6 fusion was confirmed by next-generation sequencing. Three major fusion variants were detected NAB2ex2-STAT6int1 (5/20, 25%), NAB2ex6-STAT6ex16 (4/20, 20%), and NAB2ex4-STAT6ex2 (3/20, 15%). Clinical follow-up was available for 16 patients (median follow-up time 84 months). One patient with a morphologically malignant SFT experienced multiple local recurrences, followed by dissemination into the lungs and meninges. This malignant SFT also displayed an aberrant FLI1 expression, which was not previously reported in SFT cases. We also summarize findings from 200 cases of SFT of the H&N region, which included cases from our study, and from previous studies that reported on the fusion status of the STAT6 gene. The results suggest that metastatic disease developed only in cases with STAT6 variants that included the DNA-binding domain (STAT6-full variants), which contradicts expectations from previous reports and deserves further investigation.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
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Biomarcadores Tumorais
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Fator de Transcrição STAT6
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Fusão Gênica
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Tumores Fibrosos Solitários
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Neoplasias de Cabeça e Pescoço
Limite:
Adolescent
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Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Hum Pathol
Assunto da revista:
PATOLOGIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
República Tcheca