title: The application of molecular analyses for primary granulocytic sarcoma with a specific chromosomal translocation.
abstract: Primary granulocytic sarcoma (GS) is a rare disease defined by the absence of antecedent or concomitant leukemic cells in the bone marrow and the peripheral blood. Immunohistochemical staining for myeloperoxidase is necessary for a definite diagnosis. Otherwise, primary GS is often misdiagnosed as a malignant lymphoma or other malignancies. Primary GS is well known to frequently develop into acute myeloid leukemia (AML). Here we describe a 28-year-old woman with primary GS manifesting as an epidural tumor in the sacral region accompanied by meningeal dissemination. Fluorescence in situ hybridization analysis detected the AML1/MTG8 fusion gene in neoplastic cells obtained from her cerebrospinal fluid specimen and the epidural mass. The AML1/MTG8 fusion gene transcript was also detected by a nested reverse transcriptase-polymerase chain reaction analysis of mononuclear cells from the bone marrow, although leukemic cells were not recognized in a microscopical examination of the patient's bone marrow. Systemic chemotherapy with high-dose cytarabine followed by local radiotherapy was performed, and the patient clinically achieved a complete response. These molecular analyses provide a precise method of diagnosis, especially with respect to the French-American-British AML classification, according to the characteristic karyotypic alterations, and a patient consequently can quickly be given appropriate systemic chemotherapy as induction therapy.
authors.affiliation: Hematology Division, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, Japan.
authors.forename: Naohiro
authors.initials: N
authors.lastname: Sekiguchi
authors.forename: Takashi
authors.initials: T
authors.lastname: Watanabe
authors.forename: Yukio
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: Chiho
authors.initials: C
authors.lastname: Inokuchi
authors.forename: Sung-Won
authors.initials: SW
authors.lastname: Kim
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Yokota
authors.forename: Kazuki
authors.initials: K
authors.lastname: Tanimoto
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Matsuno
authors.forename: Kensei
authors.initials: K
authors.lastname: Tobinai
mesh_terms: D000328:Adult; D000964:Antimetabolites, Antineoplastic / Q000008:administration & dosage; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003131:Combined Modality Therapy; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D003561:Cytarabine / Q000008:administration & dosage; D004252:DNA Mutational Analysis; D005260:Female; D017619:Hemibody Irradiation; D006801:Humans; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D000075142:RUNX1 Translocation Partner 1 Protein; D023981:Sarcoma, Myeloid / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D013125:Spinal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D014178:Translocation, Genetic
chemical_list: C107844:AML1-ETO fusion protein, human; D000964:Antimetabolites, Antineoplastic; D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; D000075142:RUNX1 Translocation Partner 1 Protein; D003561:Cytarabine