Madison V Epperson1, Hayley L Born2, Dehua Wang3, Charles M Myer1,2,4. 1. University of Cincinnati College of Medicine, Cincinnati, OH, USA. 2. Department of Otolaryngology Head & Neck Surgery, University of Cincinnati Medical Center, Cincinnati, OH, USA. 3. Division of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. 4. Division of Pediatric Otolaryngology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Abstract
OBJECTIVES: To understand that yolk sac tumors (YSTs) of the head and neck (H&N) are exceedingly rare and typically carry a poor prognosis. To acknowledge the possibility of increased incidence in patients with Aicardi Syndrome and the ramifications this has on early diagnosis and treatment in this population. METHODS: To date, four germ cells tumors of the H&N have been reported in patients with Aicardi Syndrome. This report presents the second known case of a H&N YST in a patient with Aicardi syndrome. In both cases, the patient was initially misdiagnosed given unconvincing radiologic evidence. However, tissue diagnosis and elevated alpha-fetoprotein (AFP) levels were suggestive of a YST. RESULTS: In contrast to the poor prognosis previously described, both patients with Aicardi syndrome had an excellent chemotherapeutic response exhibited by normalization of AFP levels and imaging. CONCLUSIONS: Rare germ cell tumors of the H&N, such as YSTs, have now been documented in several patients with Aicardi syndrome, indicating a possible association given the rarity of these tumors in the population. YSTs should be considered in the differential diagnosis of H&N masses in these patients, with emphasis on early tissue diagnosis and treatment.
OBJECTIVES: To understand that yolk sac tumors (YSTs) of the head and neck (H&N) are exceedingly rare and typically carry a poor prognosis. To acknowledge the possibility of increased incidence in patients with Aicardi Syndrome and the ramifications this has on early diagnosis and treatment in this population. METHODS: To date, four germ cells tumors of the H&N have been reported in patients with Aicardi Syndrome. This report presents the second known case of a H&N YST in a patient with Aicardi syndrome. In both cases, the patient was initially misdiagnosed given unconvincing radiologic evidence. However, tissue diagnosis and elevated alpha-fetoprotein (AFP) levels were suggestive of a YST. RESULTS: In contrast to the poor prognosis previously described, both patients with Aicardi syndrome had an excellent chemotherapeutic response exhibited by normalization of AFP levels and imaging. CONCLUSIONS: Rare germ cell tumors of the H&N, such as YSTs, have now been documented in several patients with Aicardi syndrome, indicating a possible association given the rarity of these tumors in the population. YSTs should be considered in the differential diagnosis of H&N masses in these patients, with emphasis on early tissue diagnosis and treatment.