CONGENITAL-INFANTILE SPINDLE CELL AND SCLEROSING RHABDOMYOSARCOMAS: UNIQUE VARIANTS DEfiNED BY MOLECULAR FEATURES

Autor: John Hicks, Catherine M. Flaitz
Rok vydání: 2019
Předmět:
Zdroj: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 128:e35-e36
ISSN: 2212-4403
DOI: 10.1016/j.oooo.2019.02.061
Popis: Objectives Congenital-infantile spindle cell (SpRMS) and sclerosing (ScRMS) rhabdomyosarcomas with tumor-defining molecular features in the head and neck region will be described. These tumors may be confused with more commonly occurring spindle cell tumors (myofibroma, infantile fibrosarcoma) in infants. NCOA2 and VGLL2 rearrangements, and MyoD1 mutations are characteristically identified in SpRMS and ScRMS. NCOA2 and VGLL2 rearrangements are more common in SpRMS, while MyoD1 mutations are more common with ScRMS. NCOA2 or VGLL2 RMS tend to have favorable outcomes, but MyoD1 mutation RMS may have aggressive disease with dismal outcome. Findings 5 neonates and infants were diagnosed with head and neck SpRMS (n=3, 2 males, 1 female, ages 2 weeks to 6 months, 2 maxillary sinus, 1 neck) and ScRMS (n=2, 2 males, ages 5 weeks and 8 months, 1 perinasal, 1 mandible). SpRMS were characterized by malignant spindle cells that were compactly apposed, and closely resembled infantile fibrosarcoma. ScRMS were composed of small round cells in a prominent sclerotic matrix. Both SpRMS and ScRMS lacked rhabdomyoblastic differentiation on HE while NCOA2 RMS responded favorably to oncologic management. Conclusions SpRMS and ScRMS occurring in neonates and infants require molecular characterization for diagnosis, initiating appropriate oncologic and surgical management, and predicting outcome. SpRMS may mimic infantile fibrosarcoma closely, and it is recommended that spindle cell tumors in neonates and infants be assessed for myogenic differentiation.
Databáze: OpenAIRE
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