Role of Histone H3K27 Trimethylation Loss as a Marker for Malignant Peripheral Nerve Sheath Tumor in Fine-Needle Aspiration and Small Biopsy Specimens
Autor: | Jeffrey K. Mito, Vickie Y. Jo, Jason L. Hornick, Xiaohua Qian, Leona A. Doyle |
---|---|
Rok vydání: | 2017 |
Předmět: |
0301 basic medicine
Leiomyosarcoma Adult Male Solitary fibrous tumor Pathology medicine.medical_specialty Biopsy Biopsy Fine-Needle Malignant peripheral nerve sheath tumor macromolecular substances Undifferentiated Pleomorphic Sarcoma Histones 03 medical and health sciences 0302 clinical medicine medicine Biomarkers Tumor Humans medicine.diagnostic_test business.industry General Medicine DNA Methylation Middle Aged medicine.disease Immunohistochemistry Synovial sarcoma 030104 developmental biology Fine-needle aspiration 030220 oncology & carcinogenesis Female Sarcoma Spindle cell sarcoma business Neurilemmoma |
Zdroj: | American journal of clinical pathology. 148(2) |
ISSN: | 1943-7722 |
Popis: | Objectives Accurate diagnosis of malignant peripheral nerve sheath tumor (MPNST) is often challenging on fine-needle aspiration (FNA) or core needle biopsy. Recurrent mutations in EED and SUZ12, which encode subunits of polycomb repressive complex 2 (PRC2), have been identified in 70% to 92% of MPNSTs; PRC2 inactivation leads to loss of trimethylation of lysine 27 of histone H3 (H3K27me3). We evaluated the utility of H3K27me3 immunohistochemistry for distinguishing MPNST from its cytomorphologic mimics. Methods H3K27me3 immunohistochemistry was performed on 180 cases of spindle cell neoplasms sampled by FNA (n = 66) and needle biopsy (n = 114), and loss of nuclear staining was scored. Tumor types included MPNST, dedifferentiated liposarcoma, schwannoma, solitary fibrous tumor, leiomyosarcoma, melanoma, synovial sarcoma, sarcomatoid carcinoma, gastrointestinal stromal tumor, desmoid fibromatosis, low-grade fibromyxoid sarcoma, and unclassified spindle cell sarcoma/undifferentiated pleomorphic sarcoma. Results Complete loss of H3K27me3 was observed in 54% (13/24) of MPNSTs. In contrast, only two (of 156) histologic mimics showed complete loss of H3K27me3. Partial loss of H3K27me3 was present in a subset of cases (26/180), including both MPNST and non-MPNSTs. Conclusions Complete loss of H3K27me3 is a highly specific (98.7%) marker of MPNST that can distinguish MPNST from cytomorphologic mimics in FNA cell block and small biopsy specimens. |
Databáze: | OpenAIRE |
Externí odkaz: |