G2Cdb::Human Disease report

Disease id
D00000118
Name
Therapy-related myelodysplastic syndrome
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002011 MYH11
myosin, heavy chain 11, smooth muscle
Y (16165210) Translocation fusion (with another gene) (TF) Y

References

  • Therapy-related myelodysplastic syndrome with inv(16)(p13q22) and I type CBFbeta/MYH11 after autologous transplantation: undetectable fusion transcript in pretransplant progenitor cells.

    Yamamoto K, Nishikawa S, Minagawa K, Yakushijin K, Okamura A and Matsui T

    Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, Chuo-ku, Kobe 650-0017, Japan.

    We describe here a unique case of therapy-related myelodysplastic syndrome (t-MDS) with inv(16)(p13q22) after autologous stem cell transplantation for lymphoma. The rare and smallest I type CBFbeta/MYH11 fusion transcript with a breakpoint at nucleotide 399 of CBFbeta and at nucleotide 2134 of MYH11 was detected in the bone marrow cells by reverse transcription polymerase chain reaction analysis. However, the fusion transcript was undetectable in the pretransplant peripheral blood stem cells. These results suggest that the stem cell damage leading to t-MDS may be induced mainly by the conditioning regimen for transplantation. Taken together with previous reports, the I type fusion transcript is preferentially induced with chemotherapy.

    Leukemia research 2006;30;3;354-61

Literature (1)

Pubmed - human_disease

  • Therapy-related myelodysplastic syndrome with inv(16)(p13q22) and I type CBFbeta/MYH11 after autologous transplantation: undetectable fusion transcript in pretransplant progenitor cells.

    Yamamoto K, Nishikawa S, Minagawa K, Yakushijin K, Okamura A and Matsui T

    Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, Chuo-ku, Kobe 650-0017, Japan.

    We describe here a unique case of therapy-related myelodysplastic syndrome (t-MDS) with inv(16)(p13q22) after autologous stem cell transplantation for lymphoma. The rare and smallest I type CBFbeta/MYH11 fusion transcript with a breakpoint at nucleotide 399 of CBFbeta and at nucleotide 2134 of MYH11 was detected in the bone marrow cells by reverse transcription polymerase chain reaction analysis. However, the fusion transcript was undetectable in the pretransplant peripheral blood stem cells. These results suggest that the stem cell damage leading to t-MDS may be induced mainly by the conditioning regimen for transplantation. Taken together with previous reports, the I type fusion transcript is preferentially induced with chemotherapy.

    Leukemia research 2006;30;3;354-61

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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