title: Therapy-related myelodysplastic syndrome with inv(16)(p13q22) and I type CBFbeta/MYH11 after autologous transplantation: undetectable fusion transcript in pretransplant progenitor cells.
abstract: 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.
authors.affiliation: Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, Chuo-ku, Kobe 650-0017, Japan.
authors.forename: Katsuya
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Nishikawa
authors.forename: Kentaro
authors.initials: K
authors.lastname: Minagawa
authors.forename: Kimikazu
authors.initials: K
authors.lastname: Yakushijin
authors.forename: Atsuo
authors.initials: A
authors.lastname: Okamura
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Matsui
mesh_terms: D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D005260:Female; D006412:Hematopoietic Stem Cells / Q000378:metabolism / Q000473:pathology; D006801:Humans; D016393:Lymphoma, B-Cell / Q000150:complications* / Q000235:genetics / Q000628:therapy; D016403:Lymphoma, Large B-Cell, Diffuse / Q000150:complications* / Q000235:genetics / Q000628:therapy; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D033581:Stem Cell Transplantation; D019172:Transplantation Conditioning / Q000009:adverse effects* / Q000379:methods; D014182:Transplantation, Autologous
chemical_list: C095514:CBFbeta-MYH11 fusion protein; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger