title: Dual-color split signal fluorescence in situ hybridization assays for the detection of CALM/AF10 in t(10;11)(p13;q14-q21)-positive acute leukemia.
abstract: We developed dual-color split fluorescence in situ hybridization (FISH) assays to detect AF10 and/or CALM rearrangements. Among nine cases of acute leukemia with translocation breakpoints at 10p13 and 11q14-21, a CALM/AF10 rearrangement was found in seven and was confirmed by reverse transcriptase polymerase chain reaction (RT-PCR) in all. In 2/7 cases, FISH detected CALM/AF10 in extramedullary leukemic infiltrations in the mediastinum and breast. As expected, FISH was less sensitive than RT-PCR for disease monitoring of CALM-AF10 positive cases. This new FISH assay reliably discriminates between MLL/AF10 and CALM/AF10 genomic rearrangements, identifies variant and complex CALM/AF10 translocations and detects the CALM/AF10 rearrangement in extramedullary leukemic infiltrations.
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, Policlinico Monteluce, via Brunamonti, 06122 Perugia, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.forename: Barbara
authors.initials: B
authors.lastname: Crescenzi
authors.forename: Alexandre
authors.initials: A
authors.lastname: Krause
authors.forename: Valentina
authors.initials: V
authors.lastname: Pierini
authors.forename: Giorgina
authors.initials: G
authors.lastname: Specchia
authors.forename: Antonella
authors.initials: A
authors.lastname: Bardi
authors.forename: Rosa
authors.initials: R
authors.lastname: Nieddu
authors.forename: Cristina
authors.initials: C
authors.lastname: Ariola
authors.forename: Mauro
authors.initials: M
authors.lastname: Nanni
authors.forename: Daniela
authors.initials: D
authors.lastname: Diverio
authors.forename: Anna
authors.initials: A
authors.lastname: Aventin
authors.forename: Marco
authors.initials: M
authors.lastname: Sborgia
authors.forename: Massimo F
authors.initials: MF
authors.lastname: Martelli
authors.forename: Stefan K
authors.initials: SK
authors.lastname: Bohlander
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007938:Leukemia / Q000235:genetics* / Q000473:pathology; D017254:Leukemic Infiltration / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012189:Retrospective Studies; D014178:Translocation, Genetic
chemical_list: C114359:AF10-CALM fusion protein, human; D015514:Oncogene Proteins, Fusion