title: Isolated duodenal myeloid sarcoma associated with theCBFβ/MYH11fusion gene followed by acute myeloid leukemia progression: A case report and literature review.
abstract: Myeloid sarcoma (MS) is a rare disease that presents as an extramedullary tumorous mass of immature myeloid precursors. The majority of MS are identified in acute myeloid leukemia (AML) patients and rarely present as a primary isolated MS without AML. In addition, inversion of chromosome 16 [inv(16)] and theCBFβ/MYH11fusion gene are rarely associated with MS. The current study reports a female patient with an isolated duodenal MS, who developed AML-M4 associated with theCBFβ/MYH11fusion gene and 48,XX,inv(16),+13,+22. A review of previously reported cases of isolated MS with theCBFβ/MYH11fusion gene was also performed. Isolated MS with theCBFβ/MYH11fusion gene was often observed in abdominal lesions, with the intestinal tract being the predominantly involved site. In addition, patients with isolated MS with theCBFβ/MYH11fusion exhibited a high risk of developing systemic AML. The diagnosis of isolated MS may be particularly challenging and, therefore, determining the optimal standard treatment for isolated MS is required.
authors.affiliation: Department of Hematology, Huashan Hospital, Fudan University, Shanghai 200040, P.R. China.
authors.forename: Bo
authors.initials: B
authors.lastname: Huang
authors.affiliation: Department of Gastroenterology, People's Hospital, Peking University, Beijing 100044, P.R. China.
authors.forename: Peng
authors.initials: P
authors.lastname: You
authors.affiliation: Department of Hematology, Huashan Hospital, Fudan University, Shanghai 200040, P.R. China.
authors.forename: Ping
authors.initials: P
authors.lastname: Zhu
authors.affiliation: Department of Pathology, Huashan Hospital, Fudan University, Shanghai 200040, P.R. China.
authors.forename: Zunguo
authors.initials: Z
authors.lastname: DU
authors.affiliation: Department of Hematology, Huashan Hospital, Fudan University, Shanghai 200040, P.R. China.
authors.forename: Beiqian
authors.initials: B
authors.lastname: Wu
authors.affiliation: Department of Hematology, Huashan Hospital, Fudan University, Shanghai 200040, P.R. China.
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Xu
authors.affiliation: Department of Hematology, Huashan Hospital, Fudan University, Shanghai 200040, P.R. China.
authors.forename: Zi
authors.initials: Z
authors.lastname: Chen
keywords: CBFβ/MYH11 fusion gene; acute myeloid leukemia; myeloid sarcoma