Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states.
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.
Lee
Jae Wook
JW
Department of Pediatrics, College of Medicine, The Catholic University of Korea, Inchon, Republic of Korea.
Yang
Woo Sik
WS
Chung
Seung Yun
SY
Kang
Jin Han
JH
Cho
Bin
B
Kim
Hack Ki
HK
Kim
Kyoung Mee
KM
Jeong
Dae Chul
DC
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*
D017931:DNA Primers; D019009:Proto-Oncogene Proteins c-kit