Clinicopathological and genetic heterogeneity of the head and neck solitary fibrous tumours: a comparative histological, immunohistochemical and molecular study of 36 cases
| Autor: | Jen-Wei Tsai, Yu-Chien Kao, Po-Chun Lin, Hui-Chun Tai, Shih-Chen Yu, Jui Lan, Shih-Chiang Huang, Shao-Lun Yen, I-Chieh Chuang, Hsuan-Ying Huang, Chien-Feng Li |
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| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Adult Male Pathology medicine.medical_specialty Histology Adolescent Oncogene Proteins Fusion Biology Pathology and Forensic Medicine Diagnosis Differential 03 medical and health sciences Young Adult 0302 clinical medicine medicine Biomarkers Tumor Humans Head and neck Aged Cell Nucleus NAB2 Genetic heterogeneity Reverse Transcriptase Polymerase Chain Reaction Solitary fibrous tumour Pharynx Soft tissue General Medicine Middle Aged Immunohistochemistry Repressor Proteins Skull 030104 developmental biology medicine.anatomical_structure Head and Neck Neoplasms 030220 oncology & carcinogenesis Solitary Fibrous Tumors Female STAT6 Transcription Factor |
| Zdroj: | Histopathology. 68(4) |
| ISSN: | 1365-2559 |
| Popis: | Aims Solitary fibrous tumour (SFT) harbours recurrent inv12(q13q13)-derived NAB2–STAT6 fusions, resulting in STAT6 nuclear expression. SFTs affecting the head and neck are rare, for which we reported their clinicopathological, immunohistochemical, and genetic features. Methods and results With 19 cases assessable for NAB2–STAT6 fusions, 36 head and neck SFTs (18 males; 18 females) diagnosed between 13 and 79 years (median, 47 years) of age were analysed for clinicopathological features and STAT6 immunoexpression. These SFTs, ranging from 5 to 80 mm (median, 25 mm), affected the oral cavity/pharynx (12), orbit (11), sinonasal structures (seven), and somatic soft tissues or skull (six). Histologically, 20 SFTs were conventional, six were giant-cell angiofibroma-like, one was fat-forming, four were cellular/atypical, and five were malignant (two developing metastases). STAT6 distinctively decorated the tumoral nuclei in 35 (97.2%) SFTs, but not in 29 site-relevant histological mimics categorized into 12 entities. Sixteen (84.2%) SFTs showed NAB2–STAT6 fusions with highly heterogeneous exon compositions, including NAB2ex6–STAT6ex17 in four cases, NAB2ex4–STAT6ex2 in three cases, NAB2ex2–STAT6ex2, NAB2ex4–STAT6ex4, NAB2ex6–STAT6ex16 and NAB2ex6–STAT6ex18 in two cases each, and NAB2ex3–STAT6ex19 in one case. Conclusions Nuclear STAT6 immunoexpression is sensitive and specific for distinguishing SFT from mimics. However, considerable heterogeneity exists in the head and neck SFTs regarding the locations, histological patterns, and NAB2–STAT6 fusion variants. |
| Databáze: | OpenAIRE |
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