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: Naohiro Sekiguchi, Takashi Watanabe, Yukio Kobayashi, Chiho Inokuchi, Sung-Won Kim, Yukiko Yokota, Kazuki Tanimoto, Yoshihiro Matsuno, Kensei Tobinai
• Journal: International journal of hematology (Int J Hematol) Vol. 82 Issue 3 Pg. 210-4 (Oct 2005) ISSN: 0925-5710 [Print] Japan
• PMID: 16207593 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• AML1-ETO fusion protein, human
• Antimetabolites, Antineoplastic
• Core Binding Factor Alpha 2 Subunit
• Oncogene Proteins, Fusion
• RUNX1 Translocation Partner 1 Protein
• Cytarabine

Topics

• Adult
• Antimetabolites, Antineoplastic (administration & dosage)
• Chromosomes, Human, Pair 21 (genetics)
• Chromosomes, Human, Pair 8 (genetics)
• Combined Modality Therapy
• Core Binding Factor Alpha 2 Subunit (genetics)
• Cytarabine (administration & dosage)
• DNA Mutational Analysis
• Female
• Hemibody Irradiation
• Humans
• Oncogene Proteins, Fusion (genetics)
• RUNX1 Translocation Partner 1 Protein
• Sarcoma, Myeloid (genetics, pathology, therapy)
• Spinal Neoplasms (genetics, pathology, therapy)
• Translocation, Genetic