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

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)490-495
Number of pages6
JournalInternal Medicine
Volume44
Issue number5
DOIs
Publication statusPublished - 2005 May
Externally publishedYes

Fingerprint

Bowen's Disease
Primary Myelofibrosis
Germ-Line Mutation
Myelodysplastic Syndromes
Ovarian Neoplasms
Drug Therapy
Melphalan
Therapeutic Uses
Missense Mutation
Prednisolone
Histidine
Codon
Cyclosporine
Arginine
Blood Cells
Alleles
Polymerase Chain Reaction
Skin
Bowen syndrome

Keywords

  • Bowen's disease
  • Myelodysplastic syndrome
  • Myelofibrosis
  • Ovarian cancer
  • TP53

ASJC Scopus subject areas

  • Internal Medicine

Cite this

A patient with TP53 germline mutation developed Bowen's disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer. / Kuribayashi, Kageaki; Matsunaga, Takuya; Sakai, Toshio; Wada, Yuko; Tateno, Kumiko; Murase, Kazuyuki; Fujimi, Akihito; Takimoto, Rishu; Terui, Takeshi; Kato, Junji; Sasaki, Aya; Satoh, Masaaki; Niitsu, Yoshiro.

In: Internal Medicine, Vol. 44, No. 5, 05.2005, p. 490-495.

Research output: Contribution to journalArticle

Kuribayashi, K, Matsunaga, T, Sakai, T, Wada, Y, Tateno, K, Murase, K, Fujimi, A, Takimoto, R, Terui, T, Kato, J, Sasaki, A, Satoh, M & Niitsu, Y 2005, 'A patient with TP53 germline mutation developed Bowen's disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer', Internal Medicine, vol. 44, no. 5, pp. 490-495. https://doi.org/10.2169/internalmedicine.44.490
Kuribayashi, Kageaki ; Matsunaga, Takuya ; Sakai, Toshio ; Wada, Yuko ; Tateno, Kumiko ; Murase, Kazuyuki ; Fujimi, Akihito ; Takimoto, Rishu ; Terui, Takeshi ; Kato, Junji ; Sasaki, Aya ; Satoh, Masaaki ; Niitsu, Yoshiro. / A patient with TP53 germline mutation developed Bowen's disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer. In: Internal Medicine. 2005 ; Vol. 44, No. 5. pp. 490-495.
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