Acute myelogenous leukemia with monosomy 7, inv(3) (q21q26), involving activated EVI 1 gene occurring after a complete remission of lymphoblastic lymphoma: A case report

A 42-year-old female with a mediastinal tumor and massive pleural effusion was admitted to our hospital in June 1993. Biopsy revealed lymphoblastic ly mphoma. She had no evidence of distant metastasis except pleural effusion. Bone marrow examination revealed a normal karyotype (46, XY). The patient h ad been progression-free for more than 1 year after achieving complete remi ssion by induction, consolidation and maintenance therapy according to the standard chemotherapy and involved-field radiation for lymphoblastic lympho ma. From May 1996 progressive leukopenia and thrombocytopenia developed. Th e diagnosis of refractory anemia with excess of blasts (RAEB) was made. Sub sequently, in November 1996, she developed acute myelogenous leukemia (AML) , M4 type by FAB classification. The karyotype of MDS and AML clones involv ed inversion (3) (q21q26) and monosomy 7. The EVI1 gene was examined and wa s proved to be rearranged and activated. This may be the first case among t he therapy-related cases of MDS/AML reported whose karyotypes were followed and in which the mRNA expression of EVI 1 gene involved was directly prove d in the leukemogenesis process of chemotherapy-induced secondary MDS and A ML.