title: Translocation t(9;22) (p23;q11) in atypical chronic myeloid leukemia (aCML) presenting osteolytic lesions.
abstract: A 58-year-old man with a 4-month history of atypical chronic myeloid leukemia (aCML), treated with INF-alpha and hydroxyurea, presented with severe localized bone pain with involvement of upper limbs on July 17, 2000. Cytogenetic analysis of peripheral blood cells showed 46,XY,t(9;22)(p23;q11) and no BCR-ABL fusion gene was detected by fluorescence in situ hybridization (FISH). On October 30,2000, x-rays revealed extended destruction of the bilateral proximal upper limbs; pain in the femoral bones appeared in December, and the patient couldn't walk. Roentgenograms taken on January 4, 2001, showed diffuse lytic changes in bilateral femoral bones. On January 23, 2001, fixation of pending fractures in the bilateral femoral bones with an intramedullary rod had produced good results. The infiltration of immature myeloid cells was diagnosed by the histological findings of a bone specimen from the right femur. Because the serum levels of parathyroid hormone (PTH), PTH related protein, and calcitonin were normal, we considered that the bone destruction was caused by the invasion of immature myeloid cells. Four months later, the patient showed a marked increase in peripheral immature granulocytes. A bone marrow specimen showed blastic marrow, and he died of a brain hemorrhage. This report suggests that aCML might cause destructive bone lesions prior to the disease progression. To our knowledge, this is the first published case of aCML in which the chromosomal abnormality t(9;22)(p23;ql 1) was detected.
authors.affiliation: Department of Internal Medicine, Kyushu Kosei-Nenkin Hospital, Kitakyushu City, Japan. Tsuyoshi.Muta@ma8.seikyou.ne.jp
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Muta
authors.forename: Koichi
authors.initials: K
authors.lastname: Osaki
authors.forename: Yujirou
authors.initials: Y
authors.lastname: Yamano
mesh_terms: D002543:Cerebral Hemorrhage; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D018450:Disease Progression; D017809:Fatal Outcome; D005269:Femur / Q000473:pathology; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology*; D017254:Leukemic Infiltration; D008297:Male; D008875:Middle Aged; D010014:Osteolysis / Q000209:etiology*; D014178:Translocation, Genetic