The finding of a reciprocal whole-arm translocation t(X;12)(p10;p10) in association with atypical chronic myeloid leukaemia.
Atypical chronic myeloid leukaemia (aCML) belongs to the myeloproliferative/myelodysplastic category of haematological disease. Main characteristics are marked dysgranulopoiesis, bone marrow dysfunction and the failure to demonstrate the presence of the Philadelphia chromosome or BCR/ABL fusion gene normally associated with CML t(9;22)(q34;q11). It carries a poor prognosis with limited therapeutic options available. Most cases of aCML have one or more karyotypic abnormalities. We highlight a clinical presentation of aCML associated with an acquired reciprocal whole-arm translocation (WAT), t(X;12)(p10;p10), which to our knowledge has not yet been described. We also discuss how such a translocation might lead to tumorigenesis.
Elder
P T
PT
Department of Haematology, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast, BT9-7AB, UK. patrickelder@doctors.org.uk
McMullin
M F
MF
Humphreys
M W
MW
Hamilton
J
J
McGrattan
P
P
D000368:Aged; D002471:Cell Transformation, Neoplastic; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics / Q000648:ultrastructure*; D041321:Chromosomes, Human, X / Q000235:genetics / Q000648:ultrastructure*; D002999:Clone Cells / Q000648:ultrastructure; D003131:Combined Modality Therapy; D016371:Cranial Irradiation; D005260:Female; D006801:Humans; D007016:Hypophysectomy; D033162:Incidental Findings; D007621:Karyotyping; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics* / Q000473:pathology; D016609:Neoplasms, Second Primary / Q000235:genetics; D014411:Neoplastic Stem Cells / Q000648:ultrastructure; D015282:Octreotide / Q000627:therapeutic use; D010911:Pituitary Neoplasms / Q000532:radiotherapy / Q000601:surgery; D018714:Radiotherapy, Adjuvant; D014178:Translocation, Genetic
D015282:Octreotide