Inherited pericentric inversion of chromosome 16 in chronic phase of chronic myeloid leukaemia

• Published in: Leukemia research 2006, Vol.30 (1), p.115-117
• Main Authors: Silva, Priscilla M.R., Lourenço, Gustavo J., Bognone, Rosemeire A.V., Delamain, Marcia T., Pinto-Junior, Walter, Lima, Carmen S.P.
• Format: Article
• Language: English
• Subjects: Acquired chromosomal abnormality; Adult; Blast Crisis - complications; Blast Crisis - pathology; Blast Crisis - therapy; Bone Marrow Transplantation; Chromosome Inversion; Chromosomes, Human, Pair 16; Chromosomes, Human, Pair 22; Chromosomes, Human, Pair 9; Chronic myeloid leukaemia; Female; Genetic Diseases, Inborn - complications; Genetic Diseases, Inborn - pathology; Genetic Diseases, Inborn - therapy; Humans; Inherited chromosomal abnormality; inv(p13q22); Leukemia, Myelogenous, Chronic, BCR-ABL Positive - complications; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - pathology; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - therapy; Remission Induction; t(9; 22)(q34; q11); Translocation, Genetic
• ISSN: 0145-2126; 1873-5835
• DOI: 10.1016/j.leukres.2005.06.003

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.