title: FUS-ERG gene fusion in isolated myeloid sarcoma showing uncommon clinical features.
abstract: FUS-ERG gene fusion has not been reported in cases of myeloid sarcoma (MS), a subtype of acute myeloid leukemia involving extramedullary anatomic sites. Here, we report a case of a 48-year-old man with primary isolated MS of the anterior mediastinum, who later developed multiple extramedullary recurrences without bone marrow infiltration throughout the course. G-banding analysis of the cells in pericardial effusion at recurrence showed complex karyotypic abnormalities including t(16;21)(p11.2;q22). FUS break-apart fluorescent in situ hybridization analysis showed split signals in biopsy sections at initial diagnosis and recurrence. Reverse transcriptase polymerase chain reaction and direct sequencing demonstrated the presence of the FUS-ERG chimeric gene transcript. The patient underwent cord blood transplantation, but died of pneumonia on day 64. To our knowledge, this is the first report of isolated MS carrying FUS-ERG gene fusion. In future study, relationship between the fusion gene and uncommon clinical features should be investigated in isolated MS.
authors.affiliation: Department of Hematology , National Cancer Center Hospital , Tokyo , Japan.
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Ueda
authors.affiliation: Department of Hematology , National Cancer Center Hospital , Tokyo , Japan.
authors.forename: Dai
authors.initials: D
authors.lastname: Maruyama
authors.affiliation: Department of Hematology , National Cancer Center Hospital , Tokyo , Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Nomoto
authors.affiliation: Department of Pathology and Clinical Laboratory , National Cancer Center Hospital , Tokyo , Japan.
authors.forename: Akiko M
authors.initials: AM
authors.lastname: Maeshima
authors.affiliation: Department of Hematology , National Cancer Center Hospital , Tokyo , Japan.
authors.forename: Suguru
authors.initials: S
authors.lastname: Fukuhara
authors.affiliation: Department of Hematology , National Cancer Center Hospital , Tokyo , Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Kitahara
authors.affiliation: Department of Hematology , National Cancer Center Hospital , Tokyo , Japan.
authors.forename: Ken-Ichi
authors.initials: K
authors.lastname: Miyamoto
authors.affiliation: Department of Hematology , National Cancer Center Hospital , Tokyo , Japan.
authors.forename: Wataru
authors.initials: W
authors.lastname: Munakata
authors.affiliation: Department of Hematology , National Cancer Center Hospital , Tokyo , Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Suzuki
authors.affiliation: Department of Pathology and Clinical Laboratory , National Cancer Center Hospital , Tokyo , Japan.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Taniguchi
authors.affiliation: Department of Hematology , National Cancer Center Hospital , Tokyo , Japan.
authors.forename: Yukio
authors.initials: Y
authors.lastname: Kobayashi
authors.affiliation: Department of Hematology , National Cancer Center Hospital , Tokyo , Japan.
authors.forename: Kensei
authors.initials: K
authors.lastname: Tobinai