title: Variant translocation with a deletion of derivative (9q) in a case of Philadelphia chromosome positive (Ph +) essential thrombocythemia (ET), a variant of chronic myelogenous leukemia (CML) with a poor prognosis.
abstract: Patients presenting with thrombocytosis require thorough clinical and laboratory evaluation to determine whether they suffer from essential thrombocythemia or another myeloproliferative disorder. This distinction becomes increasingly relevant as targeted agents become available to treat specific myeloproliferative diseases. Cytogenetic testing plays a major role in this analysis. This study presents a patient with Philadelphia chromosome positive (Ph + ) thrombocytosis and a cryptic der(9q)t(5;9)t(9;22) not found by conventional cytogenetics, whose disease progressed within 2 years to typical myeloblastic crisis of CML. It discusses the entity of Ph + ET, the utility of molecular cytogenetic testing in the diagnosis of this unusual disease entity and the importance of cytogenetic testing in the prognosis of ET.
authors.affiliation: Department of Medicine, Columbia University College of Physicians and Surgeons, New York, USA.
authors.forename: K
authors.initials: K
authors.lastname: Daly
authors.forename: S V
authors.initials: SV
authors.lastname: Nandula
authors.forename: V V
authors.initials: VV
authors.lastname: Murty
authors.forename: G
authors.initials: G
authors.lastname: Nichols
mesh_terms: D000368:Aged; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D014644:Genetic Variation; D006801:Humans; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology; D008297:Male; D008677:Metaphase; D011379:Prognosis; D013922:Thrombocytosis / Q000235:genetics*; D014178:Translocation, Genetic