A Case with Neurofibromatosis and Chronic Myeloid Leukemia in Blastic Crisis Treated with Imatinib

Abstract

A 61-year-old female presented with complaints of fever, general weakness and hepatosplenomegaly. She had a history of nonfamilial peripheral neurofibromatosis diagnosed as von Recklinghausen's disease since 30 years previous. Physical examination was remarkable for skin colored cutaneous circumscribed nodules which appeared soft to the touch in both arms, the upper part of her abdomen, back, and posterior thigh. The liver was palpable 10 cm below the inferior border of the costal margin and she had evidence of significant splenomegaly. Laboratory results were as follows: hemoglobin 7.9 g/dl; ESR142 mm/hour; leukocytes 22400x109/L; neutrophils 35%; eosinophils 3%; basophils 4%; myelocytes40%; myeloblasts 14%; promyelocytes 2%; and band form 2%. The bone marrow picture was chronic myeloid leukemia in blastic form. Chest CT scan showed the presence of numerous cutaneous nodules (neurofibromatosis). A biopsy of the tissue fragment from the nodules confirmed the presence of diffuse neurofibromatosis. Bone marrow cytology that included cytogenetic and immunophenotyping confirmed the presence of chronic myeloid leukemia with a positive Philadelphia chromosome and diploidy female clone in a blastic form (acute myeloid leukemia). Addition of 600 mg oral imatinib mesylate daily for one month and reduced to 400 mg daily yields complete hematological remission and complete cytogenetic responses. This case illustrated an association between chronic myeloid leukemia, acute myeloid leukemia and neurofibromatosis in an adult.