title: Lytic bone disease as the presenting feature of Philadelphia-positive monosomy 7 myelodysplasia progressing to acute myeloid leukaemia.
abstract: We describe an unusual case of Philadelphia-positive, monosomy 7 myelodysplasia progressing to acute myeloid leukaemia in a 53 year old male who presented with bone-pain and B-symptoms and was found to have diffuse osteolytic lesions. Molecular genetic analysis revealed both b3a2 and e1a2 t(9;22) transcripts. Cytogenetic analysis was an additional useful test in determining the course and management of an atypical BCR-ABL positive myelodysplasia.
authors.affiliation: Department of Haematology, Royal Devon and Exeter NHS Trust, Exeter, UK. tucks60@gmail.com
authors.forename: D
authors.initials: D
authors.lastname: Tucker
authors.forename: M S
authors.initials: MS
authors.lastname: Hamilton
authors.forename: J P
authors.initials: JP
authors.lastname: Kerr
authors.forename: C
authors.initials: C
authors.lastname: Wickham
authors.forename: H
authors.initials: H
authors.lastname: Hunter
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001549:Benzamides; D001847:Bone Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D003561:Cytarabine / Q000627:therapeutic use; D006801:Humans; D015255:Idarubicin / Q000627:therapeutic use; D000068877:Imatinib Mesylate; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*; D010146:Pain / Q000175:diagnosis / Q000235:genetics; D010677:Philadelphia Chromosome; D010879:Piperazines / Q000627:therapeutic use; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use; D011743:Pyrimidines / Q000627:therapeutic use; D011859:Radiography; D014740:Vidarabine / Q000031:analogs & derivatives / Q000627:therapeutic use
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D010879:Piperazines; D047428:Protein Kinase Inhibitors; D011743:Pyrimidines; D003561:Cytarabine; D000068877:Imatinib Mesylate; C498826:nilotinib; D014740:Vidarabine; C024352:fludarabine; D015255:Idarubicin