Case ReportCraniospinal Germinomas in Patient with Down Syndrome Successfully Treated with Standard-Dose Chemotherapy and Craniospinal Irradiation: Case Report and Literature Review
Introduction
Down syndrome (DS) is often associated with acute myeloid leukemia,1 but tumors in the central nervous system (CNS) are rare.2 The rate of treatment-related morbidity and mortality is high in DS patients with leukemia, and identifying the optimal treatment intensity remains a challenge.3 The standard treatment has not yet been established because CNS germ cell tumors (GCTs) in DS patients are rare, and the risks of standard chemotherapy are unclear in CNS GCTs of DS patients.4 We report a case of multiple craniospinal germinomas in DS that was successfully treated with standard-dose chemotherapy combined with craniospinal irradiation. We also review the literature on CNS GCTs in DS patients and discuss their characteristics, particularly their treatments and outcomes.
Section snippets
Case Report
An 18-year-old male patient with DS complained of a left facial palsy in February 2015. He had increasing difficulty in hearing from May, and a hearing test on June revealed a left dominant hypacusis. A right facial palsy occurred in July, and bilateral ptosis occurred in August. He was finally referred and admitted to our hospital in October. Physical examination revealed a right dominant oculomotor palsy, bilateral facial palsy, and dominant hearing loss in the left ear. Laboratory
Discussion
To the best of our knowledge, only 21 cases of CNS GCTs of DS patients have been reported, including our case.4, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22 The median age was 10 years and ranged from 2 months to 35 years. A male predominance was noted in these cases. Of the 21 cases, 10 were germinoma,7, 9, 10, 12, 13, 15, 20 6 were yolk sac tumor,4, 7, 16, 18, 19, 22 and 5 were teratoma.6, 8, 11, 14, 21 Their tumor sites included the basal ganglia (11 cases)4, 7, 9, 10, 12,
Conclusion
CNS GCTs of DS patients had worse prognosis compared with non-DS cases because of treatment-related complications and progressive disease. Therefore the application of chemotherapy and radiotherapy at optimal intensity could be crucial. The literature review indicated that the standard dose of chemotherapy using a combination of 3 or more anticancer drugs may be a risk for fatal complications. The CARE regimen with local irradiation was well tolerated by DS patients and effective in treating
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CNS Germ Cell Tumors;Updates
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Conflict of interest statement: The authors declare that the article content was composed in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.