A patient with TP53 germline mutation developed Bowen's disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer

Kageaki Kuribayashi; Takuya Matsunaga; Toshio Sakai; Yuko Wada; Kumiko Tateno; Kazuyuki Murase; Akihito Fujimi; Rishu Takimoto; Takeshi Terui; Junji Kato; Aya Sasaki; Masaaki Satoh; Yoshiro Niitsu

doi:10.2169/internalmedicine.44.490

A patient with TP53 germline mutation developed Bowen's disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer

Intern Med. 2005 May;44(5):490-5. doi: 10.2169/internalmedicine.44.490.

Authors

Kageaki Kuribayashi¹, Takuya Matsunaga, Toshio Sakai, Yuko Wada, Kumiko Tateno, Kazuyuki Murase, Akihito Fujimi, Rishu Takimoto, Takeshi Terui, Junji Kato, Aya Sasaki, Masaaki Satoh, Yoshiro Niitsu

Affiliation

¹ 4th Department of Internal Medicine, Sapporo Medical University School of Medicine, Japan.

PMID: 15942101
DOI: 10.2169/internalmedicine.44.490

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.

Publication types

Case Reports

MeSH terms

Aged
Alleles
Antineoplastic Agents / adverse effects*
Antineoplastic Agents / therapeutic use
Antineoplastic Agents, Phytogenic / adverse effects
Antineoplastic Agents, Phytogenic / therapeutic use
Biopsy
Carboplatin / adverse effects
Carboplatin / therapeutic use
Codon
DNA / genetics
Docetaxel
Drug Therapy, Combination
Female
Follow-Up Studies
Genes, p53 / genetics*
Germ-Line Mutation* / drug effects
Humans
Inflammatory Bowel Diseases / chemically induced
Inflammatory Bowel Diseases / genetics*
Inflammatory Bowel Diseases / metabolism
Intestinal Mucosa / metabolism
Intestinal Mucosa / pathology
Mutation, Missense / drug effects
Myelodysplastic Syndromes / chemically induced
Myelodysplastic Syndromes / genetics*
Myelodysplastic Syndromes / metabolism
Ovarian Neoplasms / drug therapy*
Ovarian Neoplasms / pathology
Ovarian Neoplasms / surgery
Ovariectomy
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Skin / metabolism
Skin / pathology
Taxoids / adverse effects
Taxoids / therapeutic use

Substances

Antineoplastic Agents
Antineoplastic Agents, Phytogenic
Codon
Taxoids
Docetaxel
DNA
Carboplatin