True Malignant Histiocytosis with Trisomy 9 following Primary Mediastinal Germ Cell TumorSuenaga M.a · Matsushita K.d · Kawamata N.a · Kukita T.d · Hamakawa Y.a · Gejima K.b · Onodera R.e · Sato T.e · Yamaguchi A.a · Inoue H.d · Arimura K.d · Arima N.c · Yoshida H.b · Tei C.a
aDepartment of Cardiovascular, Respiratory and Metabolic Medicine, bDepartment of Tumor Pathology, and cDivision of Host Response, Center for Chronic Viral Diseases, Graduate School of Medical and Dental Sciences, Kagoshima University, dDepartment of Hematology and Immunology, Kagoshima University Hospital, Kagoshima, and eDivision of Pulmonary Diseases, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan
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Article / Publication Details
A 24-year-old Japanese man was admitted due to bloody phlegm in May 2002. A diagnosis of mediastinal germ cell tumor, mixed type involving seminoma, immature teratoma and embryonal carcinoma, was made by transthoracic needle biopsy. Three months later, his complete blood counts revealed pancytopenia with high fever. Examination of bone marrow revealed increased atypical large histiocytes (5.6%) with hemophagocytosis, and thus, hemophagocytic syndrome related to germ cell tumor was diagnosed. In addition, chromosomal analysis of the bone marrow cells revealed a 47, XY, +9 genotype. Chemotherapies for germ cell tumor and hemophagocytic syndrome were performed without any improvement, and he died of diffuse alveolar damage. Autopsy revealed diffuse infiltration of immature histiocytes with hemophagocytosis in the liver, spleen and bone marrow. The atypical histiocytes were positive for CD68 and lysozyme and negative for lymphoid markers, and the diagnosis of true malignant histiocytosis associated with mediastinal germ cell tumor was made. The rare chromosomal abnormality of trisomy 9, a marker for benzene-related leukemia, was seen in the present case without apparent benzene exposure.
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