Myelodysplastic syndrome (RARS) with +i(12p) abnormality in a patient 10 months after diagnosis and successful treatment of a mediastinal germ cell tumor (MGCT).
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.
Christodoulou
J
J
Laboratory for Leukemia Diagnostics, Department of Internal Medicine III, University Hospital Grosshadern, Ludwig-Maximilians-University, Marchioninistr. 15, 81377 Munich, Germany.
Schoch
C
C
Schnittger
S
S
Haferlach
T
T
D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002945:Cisplatin / Q000627:therapeutic use; D005047:Etoposide / Q000627:therapeutic use; D006801:Humans; D007069:Ifosfamide / Q000627:therapeutic use; D008297:Male; D008479:Mediastinal Neoplasms / Q000150:complications* / Q000188:drug therapy; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D009373:Neoplasms, Germ Cell and Embryonal / Q000150:complications* / Q000188:drug therapy; D016609:Neoplasms, Second Primary / Q000209:etiology / Q000235:genetics; D017239:Paclitaxel / Q000627:therapeutic use
D005047:Etoposide; D017239:Paclitaxel; D002945:Cisplatin; D007069:Ifosfamide