Abstract
Leukemic presentation of anaplastic large cell lymphoma (ALCL) is very rare. We here report a case of ALCL with Klinefelter syndrome, who developed an evolution to the leukemic phase. A 14-year-old male initially presented with an anterior mediastinal malignant teratoma, which contained immature teratoma and a yolk sac tumor. Complete resection of the tumor was performed after combination chemotherapy including cyclophosphamide, vincristine, pirarubicin and cisplatin. However, he complained of left shoulder pain six months after the operation. Computed tomography showed a soft tissue tumor with bone destruction in his left humerus. Biopsy specimens from the lesion identified the diagnosis of ALCL with expression of the cytokine receptor CD30 and anaplastic lymphoma kinase 1. Delayed puberty and chromosome analysis of bone marrow confirmed a diagnosis of ALCL with Klinefelter syndrome. Despite chemotherapy, he rapidly developed a leukemic phase in association with the progression of the disease.
