title: PML-RARA fusion resulting from a cryptic insertion of RARA gene into PML gene without the reciprocal RARA-PML fusion: clinical, cytogenetic, and molecular characterization and prognosis.
abstract: We describe a case of acute promyelocytic leukemia in a 61-yr-old woman with a cryptic insertion of RARA gene into PML gene. Using a combination of cytogenetic and molecular methods, we confirmed the insertion and presence of the PML-RARA transcript and lack of the reciprocal RARA-PML transcript. Although such cryptic insertions leading to a PML-RARA fusion have been previously reported, we show that such variant insertions, based on our case, appear to have the same prognostic significance as the classical t(15;17)(q22;q21).
authors.affiliation: Department of Pathology, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
authors.forename: Hongxin
authors.initials: H
authors.lastname: Fan
authors.forename: Veronica
authors.initials: V
authors.lastname: Ortega
authors.forename: Hilal M
authors.initials: HM
authors.lastname: Fanasch
authors.forename: Yao
authors.initials: Y
authors.lastname: Wang
authors.forename: Kenneth N
authors.initials: KN
authors.lastname: Holder
authors.forename: Russell A
authors.initials: RA
authors.lastname: Higgins
authors.forename: Christina
authors.initials: C
authors.lastname: Mendiola
authors.forename: Gihan
authors.initials: G
authors.lastname: Mohamed
authors.forename: Kumari
authors.initials: K
authors.lastname: Vadlamudi
authors.forename: Gopalrao
authors.initials: G
authors.lastname: Velagaleti
mesh_terms: D059786:Abnormal Karyotype; D001853:Bone Marrow / Q000473:pathology; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D015473:Leukemia, Promyelocytic, Acute / Q000175:diagnosis* / Q000235:genetics*; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D011379:Prognosis; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein
keywords: acute promyelocytic leukemia; cryptic PML-RARA; fluorescence in situ hybridization; karyotype; reverse transcriptase-polymerase chain reaction