Oral extragonadal yolk sac tumor in a patient with Aicardi syndrome: putative origin and differential diagnosis

Burch-Smith, Rhonda; Ginsberg, Lawrence E.; Ater, Joann L.; Naggar, Adel K. El

doi:10.1016/j.humpath.2011.09.015

Cited by 3 publications

(3 citation statements)

References 15 publications

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“…To date, two benign germ cell tumors (teratomas) and two malignant germ cell tumors (embryonal carcinoma and YST) of the head and neck region have been reported in Aicardi patients. 3-5 We report a second YST of the head and neck. It is important to note that both YSTs were radiologically mischaracterized during the initial work-up, which is conceivable given the absence of radiologic specificity and the rarity of these tumors.…”

Section: Discussionmentioning

confidence: 89%

“…It was found to stain negative for CD30 and S-100 and positive for AFP, AE1/AE3, SALL-4, and Glypican-3 ( Figure 2), markers that have previously been associated with YSTs. 5 Her alpha-fetoprotein (AFP) levels were found to be 42 856 ng/mL in the blood (normal <8 ng/mL) and 82 in the cerebrospinal fluid (normal <5 ng/mL), further supporting the diagnosis of a YST.…”

Section: Case Reportmentioning

confidence: 97%

“…1 Multiple tumors have been reported in Aicardi syndrome including four tumors of the non-neurologic/ophthalmologic head and neck region arising from pluripotent cell lines (germ cell tumors). [3][4][5] These include two teratomas, one embryonal carcinoma, and one yolk sac tumor (YST).…”

Section: Introductionmentioning

confidence: 99%

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Yolk Sac Tumors of the Head and Neck in Aicardi Syndrome

Epperson

Born

Wang

et al. 2019

Ann Otol Rhinol Laryngol

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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.

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Section: Discussionmentioning

confidence: 89%

Section: Case Reportmentioning

confidence: 97%

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Yolk Sac Tumors of the Head and Neck in Aicardi Syndrome

Epperson

Born

Wang

et al. 2019

Ann Otol Rhinol Laryngol

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High-dose Chemotherapy is Efficacious and Well Tolerated in a Toddler With Aicardi Syndrome and Malignant Sacrococcygeal Teratoma

Wharton¹,

Johnson

Connelly

et al. 2018

Journal of Pediatric Hematology/Oncology

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Aicardi syndrome (AS) is a rare neurodevelopmental disorder, predominantly seen in female individuals, which appears to have an increased risk of both benign and malignant neoplasia. We report the case of a child with AS who presented with metastatic malignant sacrococcygeal tumor (with yolk sac elements) which recurred and then was treated with 3 cycles of high-dose chemotherapy with autologous stem cell rescue. The patient tolerated therapy with acceptable toxicity and remains in clinical remission 3 months after the completion of therapy. Her neurological status remains similar to that before diagnosis with the exception of chemotherapy induced hearing loss. This is the first description a sacrococcygeal teratoma in a patient with Aicardi, as well as the first use of intensified consolidation chemotherapy in a patient with Aicardi, which was well tolerated and resulted in remission. The use of chemotherapy should be considered for all patients with AS and malignancy.

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