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

A 61-year-old female presented with complaints of fever, general weakness andhepatosplenomegaly. she had a history of nonfamilial peripheral neurofibromatosisdiagnosed as von recklinghausen's disease since 30 years previous.physical examination was remarkable for skin colored cutaneous circumscribednodules 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 ofthe costal margin and she had evidence of significant splenomegaly. laboratory resultswere 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 myeloidleukemia in blastic form. chest ct scan showed the presence of numerous cutaneousnodules (neurofibromatosis). a biopsy of the tissue fragment from the nodulesconfirmed the presence of diffuse neurofibromatosis. bone marrow cytology thatincluded cytogenetic and immunophenotyping confirmed the presence of chronicmyeloid leukemia with a positive philadelphia chromosome and diploidy femaleclone in a blastic form (acute myeloid leukemia). addition of 600 mg oral imatinibmesylate daily for one month and reduced to 400 mg daily yields complete hematologicalremission and complete cytogenetic responses.this case illustrated an association between chronic myeloid leukemia, acutemyeloid leukemia and neurofibromatosis in an adult.