title: Inherited pericentric inversion of chromosome 16 in chronic phase of chronic myeloid leukaemia.
abstract: The simultaneous occurrence of two specific acquired chromosomal abnormalities in chronic or acute leukaemias is rare. Inherited chromosomal abnormalities are also rare events in the general population. In chronic myeloid leukaemia (CML), characterised by the t(9;22)(q34;q11), the inv(16)(p13q22) has been described associated with the acceleration of disease or onset of blast crisis. We report on a patient with chronic phase of CML and both acquired t(9;22)(q34;q11) and inherited inv(16)(p13q22), who obtained a complete remission of the disease after bone marrow transplant. Therefore, it is worth to comment that an additional chromosomal abnormality in disease does not obligatory mean transformation of the disease to a more aggressive form, since chromosomal abnormalities are also seen in normal individuals.
authors.affiliation: Haematology and Haemotherapy Centre, Faculty of Medical Sciences, State University of Campinas, 13083-970 Campinas, São Paulo, Brazil.
authors.forename: Priscilla M R
authors.initials: PM
authors.lastname: Silva
authors.forename: Gustavo J
authors.initials: GJ
authors.lastname: Lourenço
authors.forename: Rosemeire A V
authors.initials: RA
authors.lastname: Bognone
authors.forename: Marcia T
authors.initials: MT
authors.lastname: Delamain
authors.forename: Walter
authors.initials: W
authors.lastname: Pinto-Junior
authors.forename: Carmen S P
authors.initials: CS
authors.lastname: Lima
mesh_terms: D000328:Adult; D001752:Blast Crisis / Q000150:complications / Q000473:pathology* / Q000628:therapy; D016026:Bone Marrow Transplantation; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D005260:Female; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000473:pathology* / Q000628:therapy; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000150:complications / Q000473:pathology* / Q000628:therapy; D012074:Remission Induction; D014178:Translocation, Genetic