title: Trisomy 19 as the sole chromosomal abnormality in proliferative chronic myelomonocytic leukemia.
abstract: Distinct morphologic and clinical features associated with specific chromosomal abnormalities have been described in subgroups of myelodysplastic syndromes (MDS), which often are losses or gains and only rarely translocations. Among 103 consecutive MDS patients diagnosed and karyotyped at the Albert-Ludwigs University of Freiburg (ALU) between 1993 and 1999, two chronic myelomonocytic leukemias (CMMoL) displayed trisomy 19 (+19) as the sole chromosomal abnormality. Three further CMMoL cases with +19 as the single abnormality, two of which previously reported, were collected from other centers. Four of the five patients presented with leukocytosis and splenomegaly, and an increased number of ringed sideroblasts was observed in two cases. Treatment was low-dose Decitabine (cases 1 and 2), oral steroids (case 3), hydroxyurea (case 4), and daunorubicin/Ara-C (case 5). Transformation to acute myeloid leukemias (AML) occurred in three/five patients (cases 1, 2, and 4) 26, 12, and 22 months after diagnosis of CMMoL, respectively. We conclude that +19 as the sole anomaly is a rare but recurrent change in CMMoL, in particular of the proliferative type. It is at present unclear which gene(s) located on chromosome 19 might have a functional role for the development of this phenotype.
authors.affiliation: Division of Hematology/Oncology, Albert-Ludwigs University, ALU, 79106 Freiburg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Daskalakis
authors.forename: N
authors.initials: N
authors.lastname: Mauritzson
authors.forename: B
authors.initials: B
authors.lastname: Johansson
authors.forename: K
authors.initials: K
authors.lastname: Bouabdallah
authors.forename: F
authors.initials: F
authors.lastname: Onida
authors.forename: R
authors.initials: R
authors.lastname: Kunzmann
authors.forename: H
authors.initials: H
authors.lastname: Müller-Berndorff
authors.forename: A
authors.initials: A
authors.lastname: Schmitt-Gräff
authors.forename: M
authors.initials: M
authors.lastname: Lübbert
mesh_terms: D000368:Aged; D001374:Azacitidine / Q000031:analogs & derivatives / Q000627:therapeutic use; D002869:Chromosome Aberrations; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D003561:Cytarabine / Q000627:therapeutic use; D020732:Cytogenetic Analysis / Q000379:methods; D003630:Daunorubicin / Q000627:therapeutic use; D000077209:Decitabine; D004305:Dose-Response Relationship, Drug; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D015477:Leukemia, Myelomonocytic, Chronic / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D010641:Phenotype; D013256:Steroids / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D013256:Steroids; D003561:Cytarabine; D000077209:Decitabine; D001374:Azacitidine; D006918:Hydroxyurea; D003630:Daunorubicin