Primary intracranial yolk sac tumor in the posterior fossa: Case report of a child with Down syndrome

Endo, Shogo; Kobayashi, Hiroyuki; Terasaka, Shunsuke; Iguchi, Akihiro; Cho, Yuko; Ohshima, Junjiro; Kubota, Kanako; Houkin, Kiyohiro

doi:10.1016/j.clineuro.2012.07.023

Cited by 10 publications

(5 citation statements)

References 5 publications

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“…Most cases of brain tumors in Down syndrome involve a germ cell tumor. 116-129 Intracranial germ cell tumors in patients with Down syndrome manifests with higher occurrence of yolk sac tumor, and more frequently occurs in the basal ganglia, compared with germ cell tumors in individuals without Down syndrome (Table 2). All the patients that reported of intracranial germ cell tumors with Down syndrome are of Asian descent.…”

Section: Brain Tumorsmentioning

confidence: 99%

A Review of the Neurological and Neurosurgical Implications of Down Syndrome in Children

Hwang

Jea

2013

Clin Pediatr (Phila)

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Down syndrome is the most commonly encountered chromosomal translation and has been associated with significant congenital abnormalities in various organ systems. Along with classic facial findings, it may involve the gastroenterologic, cardiac, ophthalmologic, endocrine, immunologic, orthopedic, or neurologic systems. With respect to the neurological system, a higher incidence of moyamoya, seizure disorders, strokes, and spinal ligamentous laxity has been described in these children. We have summarized the current available literature with respect to children who have Down syndrome and the varying neurological pathologic entities associated to help health care providers better understand these patients.

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Section: Brain Tumorsmentioning

confidence: 99%

A Review of the Neurological and Neurosurgical Implications of Down Syndrome in Children

Hwang

Jea

2013

Clin Pediatr (Phila)

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“…Demographics are summarized in Table 1 and clinical information in Table 2. A comprehensive review of the literature revealed 31 patients in 26 manuscripts from the years 1975 to 2021 4,8–32 . Most studies originated from East Asia (22/26).…”

Section: Resultsmentioning

confidence: 99%

Multi‐institutional analysis of central nervous system germ cell tumors in patients with Down syndrome

Harris

Graham

Cappellano

et al. 2022

Pediatric Blood & Cancer

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Purpose: Primary germ cell tumors (GCTs) are the most common central nervous system (CNS) neoplasm in patients with Down syndrome (DS). However, a standard of care has not been established due to paucity of data. Methods:A retrospective multi-institutional analysis was conducted, in addition to a comprehensive review of the literature.Results: Ten patients from six institutions (five USA, one Brazil) were identified, in addition to 31 patients in the literature from 1975 to 2021. Of the 41 total patients (mean age 9.9 years; 61% male), 16 (39%) had non-germinomatous germ cell tumors (NGGCTs), 16 (39%) had pure germinomas, and eight (19.5%) had teratomas. Basal ganglia was the most common tumor location (n = 13; 31.7%), followed by posterior fossa (n = 7; 17%). Nine patients (22%) experienced disease relapse or progression, of which four died from tumor progression (one germinoma, three teratomas). Sixteen patients (39%) experienced treatment-related complications, of which eight (50%) died (five germinomas, three NGGCTs). Of the germinoma patients, two died from chemotherapy-related sepsis, one from postsurgery cardiopulmonary failure, one from pneumonia, and one from moyamoya following radiation therapy (RT). Of the NGGCT patients, one died from chemotherapy-related sepsis, one from postsurgical infection, and one from pneumonia following surgery/chemotherapy/RT. Three-year overall survival was 66% for all histological types: 62% germinomas, 79% for NGGCTs, and 53% for teratomas. Conclusion:Patients with DS treated for CNS GCTs are at an increased risk of treatment-related adverse events. A different therapeutic approach may need to be considered to mitigate treatment-related complications and long-term neurocognitive sequelae.

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“…It was reported that 14 cases were germ cell tumors among the 23 case reports of brain tumors in patients with Down syndrome ( 9 ). They believed that the overexpression of the Dscr1 or Dyrk1a gene on chromosome 21 played a vital role in this ( 9 - 11 ). At the same time, intracranial GCTs are more common in Asian countries than in North America and Europe ( 2 - 4 ).…”

Section: Discussionmentioning

confidence: 99%

“…The final diagnosis of YSTs depends on the pathology examinations, Schiller-Duval body and is pathognomonic of YSTs. However, Schiller-Duval bodies are present in 50–70% of YSTs ( 11 , 15 ). The treatment of YST is similar to other GCTs, complete surgical resection is the key to treatment, and a combination of surgical resection, chemotherapy, and radiotherapy is typically used ( 7 , 16 ).…”

Section: Discussionmentioning

confidence: 99%

Multifocal primary intracranial yolk sac tumor in an adult patient: a case report and literature review

Yang¹,

Wang²,

Chen³

et al. 2022

Transl Cancer Res TCR

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Background Yolk sac tumor is a type of germ cell tumor. It commonly arises in the gonads but sometimes can occur outside the gonads. Primary intracranial yolk sac tumors were very rare. It is always located in the pineal, suprasellar and posterior third ventricular region. The incidence of yolk sac tumor is estimated as less than 8% of all primary intracranial germ cell tumors. Multifocal primary intracranial yolk sac tumors have seldom been reported. Case Description Here we reported a 29 years old male patient with a sudden coma and a history of headaches for one month. Computed Tomography and magnetic resonance imaging of the head showed three masses located at the suprasellar region, pineal region and left temporal lobe separately. The mass at the left temporal lobe was successfully resected with emergency surgery, and decompressive craniectomy was also performed. Intraoperative findings revealed that the tumor was a solid mass with intra-tumoral haemorrhage. The pathology examination confirmed the diagnosis of yolk sac tumor. Hematoxylin and eosin staining clearly showed the Schiller-Duval body. Whole-brain radiotherapy was performed after the operation, and the patient died in a local hospital 11 months after the surgery. Conclusions We reported a case of multifocal primary intracranial yolk sac tumor in an adult patient. Then we reviewed the literature and discussed the treatment and diagnosis of patients with primary intracranial yolk sac tumors.

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Primary intracranial yolk sac tumor in the posterior fossa: Case report of a child with Down syndrome

Cited by 10 publications

References 5 publications

A Review of the Neurological and Neurosurgical Implications of Down Syndrome in Children

A Review of the Neurological and Neurosurgical Implications of Down Syndrome in Children

Multi‐institutional analysis of central nervous system germ cell tumors in patients with Down syndrome

Multifocal primary intracranial yolk sac tumor in an adult patient: a case report and literature review

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