title: Atypical chronic myelogenous leukemia in a patient with trisomy 8 mosaicism syndrome.
abstract: A 17-year-old woman was admitted for bone marrow transplantation with the diagnosis of atypical Philadelphia-negative chronic myelogenous leukemia (aCML), cytogenetically characterized by trisomy 8 as the sole chromosome aberration. A striking feature was a congenital opacity of the right cornea. Chromosomal analysis of skin fibroblasts were performed and revealed a mosaic for trisomy 8. Commonly, a distinct clinical picture leads to the diagnosis of trisomy 8 mosaicism syndrome (T8ms), but an extreme phenotypic variability has been observed. To our knowledge the development of an aCML in a patient with T8ms has not been reported. A review of the literature revealed that an association to other hematological disorders had been described in two cases. The question of whether our patient's aCML was a random event or not is discussed. The patient is now 24 months post transplant and shows no evidence of disease. Her Karnofsky score is 100%. We conclude that it might be worthwhile to look for an associated constitutional trisomy 8 mosaicism in all patients with trisomy 8 leukemia.
authors.affiliation: Department of Pediatric Hematology and Oncology, University Hospital Eppendorf, Hamburg, Federal Republic of Germany.
authors.forename: P
authors.initials: P
authors.lastname: Kapaun
authors.forename: H
authors.initials: H
authors.lastname: Kabisch
authors.forename: K R
authors.initials: KR
authors.lastname: Held
authors.forename: T A
authors.initials: TA
authors.lastname: Walter
authors.forename: S
authors.initials: S
authors.lastname: Hegewisch
authors.forename: A R
authors.initials: AR
authors.lastname: Zander
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002898:Chromosomes, Human, Pair 8 / Q000502:physiology; D005260:Female; D006801:Humans; D007859:Learning Disabilities / Q000235:genetics; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000150:complications / Q000235:genetics*; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000150:complications / Q000235:genetics; D009030:Mosaicism; D013577:Syndrome; D014314:Trisomy