NUMERO: #20220099

Título: Rhabdomyosarcoma with epithelioid and spindle cell morphology in the head and neck region: report of 3 cases.

Nome do Apresentador: Karen Domínguez GALLAGHER

Categoria do Trabalho: Apresentação Oral de Casos Clínicos (AOC)

Área Temática: Patologia Oral

Resumo: Rhabdomyosarcoma with TFCP2 rearrangement has been recently described as an aggressive tumor with a predilection for the craniofacial bones. We report three new cases with detailed clinicopathologic, immunohistochemical, and molecular descriptions. Case 1 is a 58-year-old male with a 3-month history of painful swelling in the anterior maxilla. Case 2 is a 22-year-old male presenting with right facial swelling and proptosis. Case 3 is a 43-year-old female with a rapidly growing tumor located in the zygomatic region. Imaging exams revealed highly destructive intraosseous masses in cases 1-2 and a soft tissue tumor without bone involvement in case 3. Microscopically, all cases showed a hybrid spindle and epithelioid phenotype that were positive for desmin, myogenin and/or Myo-D1, cytokeratin, and ALK. FISH confirmed molecular alterations related to EWSR1/FUS-TFCP2 gene fusions in Cases 1-2. In case 3 there was no available material for molecular study. The patients were subsequently referred to oncologic treatment.

Autor 1:  Karen Domínguez GALLAGHER

E-mail 1:  [email protected]

Autor 2:   André Caroli ROCHA

E-mail 2:  [email protected]

Autor 3 :  Ciro Dantas SOARES

E-mail 3:  [email protected]

Autor 4:  Mário José ROMAÑACH

E-mail 4:  [email protected]

Autor 5:  Roman CARLOS +

E-mail 5: 

Autor 6:  Pablo Agustin VARGAS

E-mail 6:  [email protected]

Autor 7:  Alan Roger SANTOS-SILVA

E-mail 7:  [email protected]