title: Chromosome 20q deletion: a recurrent cytogenetic abnormality in patients with chronic myelogenous leukemia in remission.
abstract: del(20q) can be observed in hematologic neoplasms, including chronic myelogenous leukemia (CML), and has been reported in patients undergoing blast transformation. We describe 10 patients with CML in hematologic and cytogenetic remission with del(20q) detected by conventional cytogenetics. There were 6 men and 4 women with a median age of 56 years. All patients initially had BCR-ABL1 and t(9;22) (q34;q11.2) and achieved morphologic and cytogenetic remission after therapy. del(20q) was identified before (2/10 [20%]), at the time of (3/10 [30%]), or after (5/10 [50%]) cytogenetic remission and was not associated with morphologic evidence of dysplasia. At last follow-up, no patients had a myelodysplastic syndrome (MDS). Leukocyte and platelet counts were normal; 4 of 10 patients had mild anemia. Nine patients have remained in morphologic and cytogenetic remission with stable del(20q). BCR-ABL1 fusion transcript levels were absent or low (median, 0.01%). Recently, in 1 patient, recurrent CML developed and del(20q) was lost. We conclude that del(20q) in the setting of CML in remission is not predictive of MDS or blast transformation.
authors.affiliation: Dept of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, 77030, USA.
authors.forename: Jianlan
authors.initials: J
authors.lastname: Sun
authors.forename: C Cameron
authors.initials: CC
authors.lastname: Yin
authors.forename: Wei
authors.initials: W
authors.lastname: Cui
authors.forename: Su S
authors.initials: SS
authors.lastname: Chen
authors.forename: L Jeffrey
authors.initials: LJ
authors.lastname: Medeiros
authors.forename: Gary
authors.initials: G
authors.lastname: Lu
mesh_terms: D000328:Adult; D000368:Aged; D001707:Biopsy, Needle; D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D020732:Cytogenetic Analysis; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics / Q000378:metabolism; D015870:Gene Expression; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008213:Lymphocyte Activation / Q000187:drug effects / Q000235:genetics; D008297:Male; D008875:Middle Aged; D012074:Remission Induction; D014178:Translocation, Genetic
chemical_list: D016044:Fusion Proteins, bcr-abl