title: Recurrent isochromosome 21 and multiple abnormalities in a patient suspected of having acute myeloid leukemia with eosinophilic differentiation -- a rare case from South India.
abstract: Acute myeloid leukemia (AML) is a phenotypically heterogeneous disorder. The M4 subtype of AML is frequently associated with the cytogenetic marker inversion 16 and/or the presence of eosinophilia. Blast crisis is the aggressive phase of the triphasic chronic myeloid leukemia (CML), which is a disease with Philadelphia(Ph) chromosome as the major abnormality. In the present study, we report a 76-year-old patient suspected of having AML with eosinophilic differentiation (AML-M4), which in clinical tests resembles CML blast crisis with multiple chromosomal abnormalities. Isochromosome 21 [i(21)(q10)] was the most recurrent feature noted in metaphases with 46 chromosomes. Ring chromosome, tetraploid endoreduplication, recurrent aneuploid clones with loss of X chromosome, monosomy 17, monosomy 7, and structural variation translocation (9;14) were also observed in this patient. Fluorescent in situ hybridization (FISH) confirmed the absence of Ph chromosome. This report shows how cytogenetic analyses revealed atypical structural aberrations in the M4 subtype of AML.
authors.affiliation: Regional Cancer Centre, Medical College, Thiruvananthapuram, Kerala, India.
authors.forename: Sangeetha
authors.initials: S
authors.lastname: Vijay
authors.forename: Santhi
authors.initials: S
authors.lastname: Sarojam
authors.forename: Sureshkumar
authors.initials: S
authors.lastname: Raveendran
authors.forename: Vani
authors.initials: V
authors.lastname: Syamala
authors.forename: Sreeja
authors.initials: S
authors.lastname: Leelakumari
authors.forename: Geetha
authors.initials: G
authors.lastname: Narayanan
authors.forename: Sreedharan
authors.initials: S
authors.lastname: Hariharan
mesh_terms: D000368:Aged; D001752:Blast Crisis / Q000235:genetics; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D020732:Cytogenetic Analysis; D062951:Endoreduplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D010677:Philadelphia Chromosome; D011123:Polyploidy; D012303:Ring Chromosomes; D014178:Translocation, Genetic