title: Standard and variant Philadelphia translocation in a CML patient with different sensitivity to imatinib therapy.
abstract: Most chronic myeloid leukemia (CML) patients show the Philadelphia chromosome (Ph) arising from the reciprocal t(9;22), but 5-10% present variants of this translocation involving different breakpoints besides 9q34 and 22q11. WE REPORT THE NON SIMULTANEOUS OCCURRENCE OF TWO DIFFERENT TYPES OF PH TRANSLOCATION IN A CML PATIENT: a t(9;22)(q34;q11) standard and a three-way variant t(9;11;22)(q34;p15;q11). Bone marrow cells with standard translocation did not have BCR/ABL kinase domain (KD) mutations and were sensitive to imatinib therapy. In contrast, bone marrow cells with the variant translocation showed two BCR/ABL KD mutations and were resistant to imatinib, thus inducing transformation to the blast phase and karyotype evolution.
authors.affiliation: Department of Internal Medicine, I.R.C.C.S. A.O.U. San Martino-IST, Genoa, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Aliano
authors.affiliation: Department of Internal Medicine, I.R.C.C.S. A.O.U. San Martino-IST, Genoa, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Cirmena
authors.affiliation: Department of Internal Medicine, I.R.C.C.S. A.O.U. San Martino-IST, Genoa, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Fugazza
authors.affiliation: Department of Internal Medicine, I.R.C.C.S. A.O.U. San Martino-IST, Genoa, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Bruzzone
authors.affiliation: Department of Internal Medicine, I.R.C.C.S. A.O.U. San Martino-IST, Genoa, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Palermo
authors.affiliation: Department of Internal Medicine, I.R.C.C.S. A.O.U. San Martino-IST, Genoa, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Sessarego
keywords: BCR/ABL KD mutation; CML; Tyrosine kinase inhibitors; Variant translocation