title: t(9;22)(q34;q11.2) is a recurrent constitutional non-Robertsonian translocation and a rare cytogenetic mimic of chronic myeloid leukemia.
abstract: The diagnosis of hematologic malignancy can be greatly aided by the detection of a cytogenetic abnormality. However, care must be taken to ensure that constitutional chromosomal abnormalities are not misattributed to a putative population of malignant cells. Here we present an unusual case in which a constitutional balanced t(9;22)(q34;q11.2) cytogenetically mimicked the acquired, t(9;22)(q34;q11.2), that is characteristic of chronic myeloid leukemia. Of special note, fluorescence in situ hybridization (FISH) analysis for this constitutional translocation (9;22)(q34;q11.2) using standard probes for BCR and ABL1 resulted in an abnormal pattern that was potentially misinterpretable as a BCR-ABL1 fusion. This is the first reported FISH analysis of a constitutional t(9;22)(q34;q11.2), and overall only the second report of such an abnormality. In light of the isolated prior report, our case also suggests that the constitutional t(9;22)(q34;q11.2) is one of the very few recurrent constitutional non-Robertsonian translocations described in humans. Our case underscores the necessity of complete clinical and laboratory correlation to avoid misdiagnosis of myeloid malignancy in the setting of rare constitutional cytogenetic abnormalities.
authors.affiliation: Department of Pathology, University of New Mexico, Albuquerque, NM, USA. dczuchlewski@salud.unm.edu
authors.forename: David R
authors.initials: DR
authors.lastname: Czuchlewski
authors.forename: Haleh
authors.initials: H
authors.lastname: Farzanmehr
authors.forename: Sheldon
authors.initials: S
authors.lastname: Robinett
authors.forename: Skip
authors.initials: S
authors.lastname: Haines
authors.forename: Kaaren K
authors.initials: KK
authors.lastname: Reichard
mesh_terms: D000328:Adult; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D005260:Female; D019337:Hematologic Neoplasms / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D014178:Translocation, Genetic