title: A case of Philadelphia chromosome positive acute lymphoblastic leukemia with partial trisomy of chromosome 1q involving chromosome 13 as the acceptor-A novel cytogenetic finding.
abstract: The Philadelphia (Ph) chromosome is infrequently found in acute lymphoblastic leukemia and is associated with poor prognosis. We present a case of Ph chromosome positive B cell-acute lymphoblastic leukemia with the partial trisomy of chromosome 1q involving chromosome 13 as the acceptor which has never been reported in the English literature. Jumping translocation (JT) of chromosome 1 is rare and is associated with disease progression and poor prognosis. Herein, we report the first case of Ph chromosome positive B cell-acute lymphoblastic leukemia with coexisting jumping translocation of chromosome 1 leading to trisomy of chromosome 1q. Dismal prognosis associated with synchronous presence of a Ph chromosome and JT leading to a partial trisomy of chromosome 1q may carry significant prognostic and therapeutic implications. This may be an incidental finding and further studies with large patient cohorts and clinical outcomes are needed to definitively determine the predictive value of this cytogenetic finding.
authors.affiliation: Department of Pathology, CORE Diagnostics, Gurgaon, Haryana, India.
authors.forename: Mohit
authors.initials: M
authors.lastname: Bharadwaj
authors.affiliation: Department of Pathology, CORE Diagnostics, Gurgaon, Haryana, India.
authors.forename: Anurag
authors.initials: A
authors.lastname: Sharma
authors.affiliation: Department of Pathology, CORE Diagnostics, Gurgaon, Haryana, India.
authors.forename: Rahul
authors.initials: R
authors.lastname: Katara
authors.affiliation: University of Pittsburgh Medical Center, Pittsburgh, PA, USA. Electronic address: drdineshpradhan@gmail.com.
authors.forename: Dinesh
authors.initials: D
authors.lastname: Pradhan
authors.affiliation: Department of Pathology, CORE Diagnostics, Gurgaon, Haryana, India.
authors.forename: Raman
authors.initials: R
authors.lastname: Arora
authors.affiliation: Department of Pathology, CORE Diagnostics, Gurgaon, Haryana, India.
authors.forename: Reena
authors.initials: R
authors.lastname: Mittal
authors.affiliation: Department of Pathology, CORE Diagnostics, Gurgaon, Haryana, India.
authors.forename: Sambit K
authors.initials: SK
authors.lastname: Mohanty
mesh_terms: D000328:Adult; D002878:Chromosomes, Human, Pair 1; D002882:Chromosomes, Human, Pair 13; D003582:Cytogenetics; D005260:Female; D006801:Humans; D010677:Philadelphia Chromosome; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic; D014314:Trisomy
keywords: Acute lymphoblastic leukemia; Jumping translocation; Philadelphia chromosome; Trisomy of chromosome 1q