KMT2C mutation is a diagnostic molecular marker for primary thyroid osteosarcoma: A case report and literature review

Xinpei Wang; Qianqian Wang; Peng Su; Chunyan Chen; Bo Han; Zhiyan Liu

doi:10.3389/fmed.2022.1030888

KMT2C mutation is a diagnostic molecular marker for primary thyroid osteosarcoma: A case report and literature review

Front Med (Lausanne). 2022 Nov 8:9:1030888. doi: 10.3389/fmed.2022.1030888. eCollection 2022.

Authors

Xinpei Wang^{1

2}, Qianqian Wang¹, Peng Su³, Chunyan Chen¹, Bo Han^{2

3}, Zhiyan Liu¹

Affiliations

¹ Department of Pathology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
² The Key Laboratory of Experimental Teratology, Ministry of Education, Department of Pathology, School of Basic Medical Sciences, Shandong University, Jinan, China.
³ Department of Pathology, Qilu Hospital, Shandong University, Jinan, China.

Abstract

Primary thyroid osteosarcoma is an extremely rare tumor which is associated with a poor prognosis. In this study, we describe an additional case. A 4.5 × 3.8 cm irregular heterogeneous nodule was examined in the left thyroid gland of a 72-year-old woman. Cytological smears and histopathological specimens showed typical features of osteosarcoma with a neoplastic lesion rich in spindle cells with occasional multinucleated cells and lace-like osteoid matrix. Negative immunoreaction with epithelial markers and positive immunoreaction with SATB2 and low Ki-67 labeling index suggested the diagnosis of osteosarcoma. Multiple KMT2C gene mutations determined by next-generation sequencing further confirmed the diagnosis.

Keywords: KMT2C; SATB2; mutation; osteosarcoma; thyroid.

Publication types

Case Reports