Clinicopathologic features and molecular spectrum of spindle cell and sclerosing rhabdomyosarcomas in the head and neck region.

Recently, spindle cell/sclerosing rhabdomyosarcoma (SRMS/ScRMS) has been recognized as a stand-alone entity in the latest edition of WHO Classification of Tumors of Soft Tissue and Bone. As SRMS/ScRMS have a predilection for the head and neck, we evaluated the clinicopathologic and molecular features of 20 cases of SRMS/ScRMS (13 SRMS and 7 ScRMS) arising in the head and neck region. 10 patients were men, and 10 were women, and their ages ranged from 2 months to 57 years. Tumor size ranged from 1.5 to 20 cm. By immunohistochemistry, all tumors showed diffuse desmin expression, and MYOD1 immunostaining was diffuse to multifocally positive: 16 cases showed myogenin positive immunostaining. 2 patients had local recurrences, and 5 patients developed distant metastases. So far, 10 patients have died of the disease. 7 of 13 SRMS and 4 of 7 ScRMS showed PIK3CA mutations, while 8 of 13 SRMS and all 7 ScRMS showed MYOD1 mutations. A novel p.R524K hotspot mutation in 8 of 11 cases showed PIK3CA mutations. SRMS/ScRMS shares similar clinicopathological and molecular features. Diagnostic pitfalls from other spindle or sclerosing sarcomas should be avoided with the use of appropriate immunohistochemical stains and relevant clinical information. Co-occurrence of PIK3CA and MYOD1 mutations are associated with unfavorable clinical outcomes. IJCEP