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Myelodysplastic syndrome (RARS) with +i(12p) abnormality in a patient 10 months after diagnosis and successful treatment of a mediastinal germ cell tumor (MGCT)

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We report on a 21-year-old man with a mediastinal germ cell tumor (MGCT) who developed a myelodysplastic syndrome (MDS) (refractory anemia with ringed sideroblasts, RARS) 10 months after the start of successful treatment with cisplatin, etoposide, ifosfamide, and paclitaxel. A very rare early occurrence of a therapy-related MDS was suspected. Cytogenetic analysis of the bone marrow revealed an aberrant karyotype, showing a deletion in 12p, an isochromosome 5p, as well as gain of an isochromosome 12p. Isochromosome 12p is a specific aberration frequently observed in MGCT. It also was described in patients who developed hematological transformation of a mediastinal germ cell tumor. In this report the association between mediastinal germ cell tumors and hematological malignancies including the possibility of a common genetic origin is discussed.

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We thank the physicians who treated the patient successfully for his germ cell tumor (University of Berlin, Charité, Berlin), and after the development of MDS with stem cell transplantation (University Hospital, Dresden). Both hospitals provided us information on the history of the disease and the course of treatment. We especially thank Professor Dr. D. Harms from the Paidopathology Institute, University of Kiel, for intensive discussions about the biology of mediastinal germ cell tumors.

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Correspondence to T. Haferlach.

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Christodoulou, J., Schoch, C., Schnittger, S. et al. Myelodysplastic syndrome (RARS) with +i(12p) abnormality in a patient 10 months after diagnosis and successful treatment of a mediastinal germ cell tumor (MGCT). Ann Hematol 83, 386–389 (2004).

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