Primary pulmonary malignant fibrous histiocytoma: case report and literature review

Abstract

Malignant fibrous histiocytoma (MFH) is an aggressive soft tissue sarcoma known to occur in various organs. Primary MFH arising in the lung is quite rare. Herein we report a case of a 61-year-old male with primary pulmonary MFH and explore the underlying molecular mechanisms by next-generation sequencing (NGS). Five gene mutations in TSC2, ARID1B, CDK8, KDM5C and CASP8 were detected, and the mTOR inhibitor might be an effective treatment for this patient. In addition, we reviewed the scientific literature of approximately 23 primary pulmonary MFH case reports since 1990 and summarized the clinical features and prognosis of this rare pulmonary malignant tumor.

Keywords: Malignant fibrous histiocytoma (MFH); sarcoma; sequencing; surgery.

Figure 1

CT images, H&E and immunohistochemical staining results. (A) Chest CT shows an 8 cm × 7 cm × 5 cm mass in the right upper lobe with large lymph nodes present in the hilum and mediastinum; (B) H&E staining shows irregularly shaped infiltrating cells with abnormal nuclei and prominent nucleoli. IHC staining shows diffuse positivity for vimentin and partial positivity for CD68, CK, CD68, calretinin and Bcl-2 with a Ki67 index of approximately 10% and negativity for desmin, CK7, EMA, CEA, WT-1, CD34 and CD30.

Figure 2

Gene mutation analysis results and corresponding data from The Cancer Genome Atlas (TCGA). The identified missense mutations in TSC2, ARID1B, CDK8, KDM5C and CASP8 are overlaid with the mutation distribution diagrams of these genes from TCGA and highlighted with black arrows.

Figure S1

Next-generation sequencing to identify mutations in 549 tumor-related genes.