Philadelphia chromosome-positive chronic myeloid leukemia and thoracic ganglioneuroma. Previously undescribed association.

A previously healthy 11 year-old-white boy presented with persistent mild leukocytosis and a posterior mediastinal mass. Surgical excision of the mass showed it to be a ganglioneuroma. Postoperatively, the patient had marked leukocytosis (white blood cell count 57,000/mm3) and a low leukocyte alkaline phosphatase score. Bone marrow aspirate for cytogenetics performed in the evaluation of the posterior mediastinal mass showed the presence of the Philadelphia chromosome (Ph) in 19 of 20 metaphase spreads. The diagnosis of Ph+ chronic myeloid leukemia (CML) was confirmed on repeat cytogenetics. Subsequent detailed skin examination showed six small cafe-au-lait spots but no other evidence of neurofibromatosis. This is the first report to describe an association between ganglioneuroma and Ph+ CML.