Myeloproliferative syndromes: a unique presentation of chronic myelogenous leukemia (CML) as a primary tumor of bone.
A 45-yr-old female presented with a rapidly enlarging bony tumor that was eventually identified as a Philadelphia chromosome (Ph1)-positive myeloproliferative disorder with extramedullary blastic transformation. This transformation occurred in the absence of demonstrable chronic or acute leukemic phase. She had no history of a chronic or prodromal illness in spite of a bone marrow biopsy showing myelofibrosis and liver biopsy documenting extramedullary hematopoiesis. This case represents a unique constellation of features of the myeloproliferative syndrome in which the diagnosis was obscure until special stains of the bony tumor and cytogenetic studies were performed.
D001859:Bone Neoplasms / Q000150:complications / Q000175:diagnosis*; D002471:Cell Transformation, Neoplastic; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D007717:Knee / Q000473:pathology; D007951:Leukemia, Myeloid / Q000150:complications / Q000175:diagnosis*; D008099:Liver / Q000473:pathology; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000175:diagnosis*; D013577:Syndrome