title: True malignant histiocytosis with trisomy 9 following primary mediastinal germ cell tumor.
abstract: 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.
authors.affiliation: Department of Cardiovascular, Respiratory and Metabolic Medicine, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Suenaga
authors.forename: Kakushi
authors.initials: K
authors.lastname: Matsushita
authors.forename: Nakaaki
authors.initials: N
authors.lastname: Kawamata
authors.forename: Toshimasa
authors.initials: T
authors.lastname: Kukita
authors.forename: Yuji
authors.initials: Y
authors.lastname: Hamakawa
authors.forename: Kentaro
authors.initials: K
authors.lastname: Gejima
authors.forename: Reiri
authors.initials: R
authors.lastname: Onodera
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Sato
authors.forename: Akihiko
authors.initials: A
authors.lastname: Yamaguchi
authors.forename: Hirosaka
authors.initials: H
authors.lastname: Inoue
authors.forename: Kosei
authors.initials: K
authors.lastname: Arimura
authors.forename: Naomichi
authors.initials: N
authors.lastname: Arima
authors.forename: Hiroki
authors.initials: H
authors.lastname: Yoshida
authors.forename: Chuwa
authors.initials: C
authors.lastname: Tei
mesh_terms: D000328:Adult; D015703:Antigens, CD; D015214:Antigens, Differentiation, Myelomonocytic; D001707:Biopsy, Needle; D001853:Bone Marrow / Q000473:pathology; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D006644:Histiocytes / Q000473:pathology; D054747:Histiocytic Sarcoma / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007564:Japan; D008099:Liver / Q000473:pathology; D051359:Lymphohistiocytosis, Hemophagocytic / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D008297:Male; D008479:Mediastinal Neoplasms / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D009113:Muramidase; D009373:Neoplasms, Germ Cell and Embryonal / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D016609:Neoplasms, Second Primary / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D011650:Pulmonary Alveoli / Q000473:pathology; D013997:Time Factors; D017211:Treatment Failure; D014314:Trisomy / Q000235:genetics; D000097382:CD68 Molecule
chemical_list: D015703:Antigens, CD; D015214:Antigens, Differentiation, Myelomonocytic; D009113:Muramidase; C067980:CD68 antigen, human; D000097382:CD68 Molecule