Neurofibromatosis 1 gene (NF1) mutation is a rare genetic event in myelodysplastic syndrome regardless of the disease progression

Hiroto Kaneko, Shigeo Horiike, Hiroyuki Nakai, Yutaka Ueda, Makoto Nakao, Kouichi Hirakawa, Shohei Yokota, Masafumi Taniwaki, Shinichi Misawa, Kei Kashima

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Neurofibromatosis 1 gene (NF1) is a tumor suppressor gene and the product of which down-regulates Nras protein by its GTPase activating protein-related domain (NF1-GRD). Although the incidence of NF1 mutation was reported to be rare in the chronic phase of myelodysplastic syndrome (MDS), there have been no previous reports on its configuration in patients showing the disease progression. We examined NF1 in 50 patients with MDS including 9 who had progressed to more advanced stages and 16 to acute leukemia. Six patients had an Nras mutation. We carried out allele specific restriction analysis (ASRA) to detect a mutation at the first nucleotide A of codon 1423 (AAG), a mutational hot spot. We also employed a polymerase chain reaction mediated single strand conformation polymorphism (PCR-SSCP) method to confirm the result of ASRA and to detect a point mutation in other sequences of FLR exon. In consequence, ASRA disclosed wild type configuration and PCR-SSCP showed no aberrant band in any sample examined whether the samples harboured an Nras mutation or not. We conclude that NF1 mutation does not play a crucial role in the development and the progression of MDS.

Original languageEnglish (US)
Pages (from-to)113-116
Number of pages4
JournalInternational Journal of Hematology
Issue number3
StatePublished - Apr 1995
Externally publishedYes


  • Allele specific restriction analysis
  • Myelodysplastic syndrome
  • NF1
  • Single strand conformation polymorphism

ASJC Scopus subject areas

  • Hematology


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