HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Alveolar rhabdomyosarcoma of the head and neck region in older adults: genetic characterization and a review of the literature.

Abstract
Alveolar rhabdomyosarcoma is remarkably rare in adults older than 45 years. Initial immunoprofiling of a small cell neoplasm of the head and neck region in an older adult may not include myogenic markers. A valuable diagnostic aid and important prognostic parameter in alveolar rhabdomyosarcoma is the identification of PAX3-FOXO1 [t(2;13)(q35;q14)] or PAX7-FOXO1 [t(1;13)(p36;q14)] rearrangements. The purpose of this study was to document the clinicopathologic, immunophenotypic, and genetic features of head/neck alveolar rhabdomyosarcoma in older adults. Prior isolated descriptions of 3 patients were included. Five patients were female and 2 male (median age, 61 years). Each neoplasm was composed of undifferentiated, small round cells in a predominantly solid pattern. Initially, ordered immunostains corresponded with early diagnostic impressions of a hematologic malignancy or neuroendocrine carcinoma. CD56 was positive in 5 of 5 tumors and synaptophysin in 1 of 6. Given the virtual absence of other lymphoid or epithelial markers, muscle immunostains were performed and these were positive. Definitive alveolar rhabdomyosarcoma diagnoses were confirmed genetically. This study illustrates the diagnosis of head/neck alveolar rhabdomyosarcoma in older adults is complicated by its rarity, lack of an alveolar pattern, and a potentially misleading immunoprofile (CD56 and synaptophysin immunoreactivity) if myogenic markers are not used. Both PAX3- and PAX7-FOXO1 alveolar rhabdomyosarcomas were identified in these patients. In children, PAX7-FOXO1 alveolar rhabdomyosarcoma is associated with a significantly longer event-free survival. In contrast, adult alveolar rhabdomyosarcoma behaves more aggressively with a worse overall survival than pediatric alveolar rhabdomyosarcoma. Further follow-up and additional cases are required to assess the prognostic relevance of these fusion transcripts in the context of advanced age.
AuthorsTaketoshi Yasuda, Kyle D Perry, Marilu Nelson, Marilyn M Bui, Aejaz Nasir, Robert Goldschmidt, Douglas R Gnepp, Julia A Bridge
JournalHuman pathology (Hum Pathol) Vol. 40 Issue 3 Pg. 341-8 (Mar 2009) ISSN: 1532-8392 [Electronic] United States
PMID18973919 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
Chemical References
  • Biomarkers, Tumor
  • FOXO1 protein, human
  • Forkhead Box Protein O1
  • Forkhead Transcription Factors
  • Oncogene Proteins, Fusion
  • PAX3 Transcription Factor
  • PAX3 protein, human
  • PAX7 Transcription Factor
  • PAX7 protein, human
  • Paired Box Transcription Factors
Topics
  • Aged
  • Biomarkers, Tumor (metabolism)
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 2
  • Cytogenetic Analysis
  • Female
  • Forkhead Box Protein O1
  • Forkhead Transcription Factors (genetics)
  • Head and Neck Neoplasms (genetics, metabolism, pathology)
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Middle Aged
  • Oncogene Proteins, Fusion (genetics, metabolism)
  • PAX3 Transcription Factor
  • PAX7 Transcription Factor (genetics)
  • Paired Box Transcription Factors (genetics)
  • Rhabdomyosarcoma, Alveolar (genetics, metabolism, pathology)
  • Translocation, Genetic

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: