title: Incidental detection of congenital Robertsonian translocation at diagnosis of Philadelphia chromosome-positive acute lymphocytic leukemia.
abstract: A man in his early forties who had undergone 3 years of unsuccessful treatment for infertility due to oligospermia and asthenospermia developed fever and bone pain in December 20XX. He was subsequently diagnosed with acute lymphocytic leukemia. Conventional cytogenetic analysis revealed Robertsonian translocation (RT) with der(13;14)(q10;q10) in addition to the Philadelphia (Ph) chromosome. Dasatinib and prednisolone induced complete remission (CR) with disappearance of the Ph chromosome. However, RT persisted despite achieving CR. We speculate that RT is possibly congenital in our present case and might also have been responsible for the aforementioned infertility. Hematologists should be aware of the possibility that congenital chromosomal disorders might be found incidentally through diagnostic chromosome analysis for leukemia.
authors.affiliation: Hematology Division, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital.
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Yamaguchi
authors.forename: Aiko
authors.initials: A
authors.lastname: Igarashi
authors.forename: Machiko
authors.initials: M
authors.lastname: Kawamura
authors.forename: Yuka
authors.initials: Y
authors.lastname: Ozasa
authors.forename: Masayuki
authors.initials: M
authors.lastname: Yoshida
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Kakihana
authors.forename: Hisashi
authors.initials: H
authors.lastname: Sakamaki
authors.forename: Kazuteru
authors.initials: K
authors.lastname: Ohashi
mesh_terms: D000328:Adult; D025063:Chromosome Disorders / Q000235:genetics*; D002877:Chromosomes, Human; D020732:Cytogenetic Analysis; D006801:Humans; D008297:Male; D010677:Philadelphia Chromosome; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy / Q000235:genetics*; D014178:Translocation, Genetic