title: Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states.
abstract: We report a case of aggressive systemic mastocytosis in a 3-year-old girl, who had undergone treatment for ovarian germ cell tumor during the previous 8 months. On diagnosis of systemic mastocytosis, she was treated with interferon-alpha and steroids. She showed tolerable side effects of interferon-alpha infusion, but died of multiple organ failure after 2 months of treatment. Point mutations of the C-KIT gene, previously implicated in the genesis of mastocytosis, were discovered not only in the bone marrow and the peripheral blood of the patient, but also in the tissue of the previously diagnosed germ cell tumor as well.
authors.affiliation: Department of Pediatrics, College of Medicine, The Catholic University of Korea, Inchon, Republic of Korea.
authors.forename: Jae Wook
authors.initials: JW
authors.lastname: Lee
authors.forename: Woo Sik
authors.initials: WS
authors.lastname: Yang
authors.forename: Seung Yun
authors.initials: SY
authors.lastname: Chung
authors.forename: Jin Han
authors.initials: JH
authors.lastname: Kang
authors.forename: Bin
authors.initials: B
authors.lastname: Cho
authors.forename: Hack Ki
authors.initials: HK
authors.lastname: Kim
authors.forename: Kyoung Mee
authors.initials: KM
authors.lastname: Kim
authors.forename: Dae Chul
authors.initials: DC
authors.lastname: Jeong
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D017931:DNA Primers; D005260:Female; D006801:Humans; D034721:Mastocytosis, Systemic / Q000235:genetics*; D009154:Mutation; D009373:Neoplasms, Germ Cell and Embryonal / Q000235:genetics* / Q000473:pathology; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D017931:DNA Primers; D019009:Proto-Oncogene Proteins c-kit