title: A patient with TP53 germline mutation developed Bowen's disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer.
abstract: Here we report a case of myelodysplastic syndrome (MDS) with myelofibrosis associated with Bowen's disease. A female patient had undergone an operation and chemotherapy for ovarian cancer when she was 65 years old, and she developed MDS at the age of 70 years old. PCR-single strand conformation polymorphism (SSCP) analysis of peripheral blood mononuclear cells, a Bowen's disease lesion, and normal skin showed an abnormal peak in TP53 exon5. Direct sequencing revealed that they all had missense mutation in codon 175 (G to A) of arginine switched to histidine, suggesting a germline mutation of TP53. It was speculated that p53 function was lost by TP53 germline mutation with the loss of a wild type allele induced by the chemotherapy against ovarian cancer, leading to the development of MDS. No therapeutic effects of low dose melphalan or cyclosporine A on MDS were observed, however one month of 30 mg/day prednisolone administration induced a hematological response.
authors.affiliation: 4th Department of Internal Medicine, Sapporo Medical University School of Medicine, Japan.
authors.forename: Kageaki
authors.initials: K
authors.lastname: Kuribayashi
authors.forename: Takuya
authors.initials: T
authors.lastname: Matsunaga
authors.forename: Toshio
authors.initials: T
authors.lastname: Sakai
authors.forename: Yuko
authors.initials: Y
authors.lastname: Wada
authors.forename: Kumiko
authors.initials: K
authors.lastname: Tateno
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Murase
authors.forename: Akihito
authors.initials: A
authors.lastname: Fujimi
authors.forename: Rishu
authors.initials: R
authors.lastname: Takimoto
authors.forename: Takeshi
authors.initials: T
authors.lastname: Terui
authors.forename: Junji
authors.initials: J
authors.lastname: Kato
authors.forename: Aya
authors.initials: A
authors.lastname: Sasaki
authors.forename: Masaaki
authors.initials: M
authors.lastname: Satoh
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Niitsu
mesh_terms: D000368:Aged; D000483:Alleles; D000970:Antineoplastic Agents / Q000009:adverse effects* / Q000627:therapeutic use; D000972:Antineoplastic Agents, Phytogenic / Q000009:adverse effects / Q000627:therapeutic use; D001706:Biopsy; D016190:Carboplatin / Q000009:adverse effects / Q000627:therapeutic use; D003062:Codon; D004247:DNA / Q000235:genetics; D000077143:Docetaxel; D004359:Drug Therapy, Combination; D005260:Female; D005500:Follow-Up Studies; D016158:Genes, p53 / Q000235:genetics*; D018095:Germ-Line Mutation / Q000187:drug effects; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000139:chemically induced / Q000235:genetics* / Q000378:metabolism; D007413:Intestinal Mucosa / Q000378:metabolism / Q000473:pathology; D020125:Mutation, Missense / Q000187:drug effects; D009190:Myelodysplastic Syndromes / Q000139:chemically induced / Q000235:genetics* / Q000378:metabolism; D010051:Ovarian Neoplasms / Q000188:drug therapy* / Q000473:pathology / Q000601:surgery; D010052:Ovariectomy; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012867:Skin / Q000378:metabolism / Q000473:pathology; D043823:Taxoids / Q000009:adverse effects / Q000627:therapeutic use
chemical_list: D000970:Antineoplastic Agents; D000972:Antineoplastic Agents, Phytogenic; D003062:Codon; D043823:Taxoids; D000077143:Docetaxel; D004247:DNA; D016190:Carboplatin