演題詳細

ポスター / Poster

ポスター 12 (Poster 12) :MDS:臨床 1

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日程
2013年10月11日(金)
時間
16:50 - 17:50
会場
ポスター会場 / Poster (ロイトン札幌 3F ロイトンホールABCD)
座長・司会
波多 智子 (Tomoko Hata):1
1:長崎大学原爆後障害医療研究所 血液内科学研究分野(原研内科)
 
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Donor-derived MDS with 11q-UPD after cord blood transplantation (CBT) for severe aplastic anemia

演題番号 : PS-1-82

杉盛 千春 (Chiharu Sugimori):1、吉田 健一 (Kenichi Yoshida):2,3、伊藤 雅文 (Masafumi Ito):4、吉田 晶代 (Akiyo Yoshida):5、澤崎 愛子 (Aiko Sawazaki):1、山口 正木 (Masaki Yamaguchi):1、佐藤 亜以子 (Aiko Sato):2,3、眞田 昌 (Masashi Sanada):2,3、上田 幹夫 (Mikio Ueda):1、小川 誠司 (Seiji Ogawa):2,3、中尾 眞二 (Shinji Nakao):5

1:Department of Hematology, Ishikawa Prefectural Central Hospital, Kanazawa, Japan、2:Cancer Genomics Project, Tokyo University, Tokyo, Japan、3:Pathology and Tumor Biology, Faculty of Medicine, Kyoto University, Kyoto, Japan、4:Department of Pathology, Red Cross Nagoya 1at Hospital, Nagoya, Japan、5:Cellular Transplantation Biology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan

 

[Background] Donor-derived AML or MDS, a rare complication after CBT, is often associated with monosomy 7, but has not been characterized well at the genetic level. We report a case of donor-derived MDS where uniparental disomy of the long arm of chromosome 11 (11qUPD) was revealed by genetic analyses. [Case] A 21-year-old female developed severe aplastic anemia and underwent unrelated cord blood transplantation after a reduced intensity conditioning regimen with fludarabine (125 mg/m2), melphalan (80 mg/m2), and total-body irradiation (4 Gy). Three years later, she developed pancytopenia and was diagnosed as having MDS-RAEB2 of donor origin based on the presence of 12% blasts in bone marrow (BM) that were positive for p53 and HbF+ erythroblasts. The karyotype was 46, XX [20/20] while single nucleotide polymorphism array (SNP-array) analysis revealed 11qUPD. Deep sequencing of c-CBL, U2AF1, SRSF2, and SF3B1 failed to show mutations. The WT1 mRNA copy number in BM was extremely high (1.7 x 105 copy/μgRNA). She was treated with azacitidine (AZA, 75 mg/m2 for 7 days, every 4 weeks). After 5 cycles of azacitidine, BM examination showed a decrease in the percentages of BM blasts (<5%), and p53+ cells with maturation of HbF+ erythroblasts into erythrocytes. The BM WT1 mRNA decreased to 8.0 x 102 copy/μgRNA and 11qUPD became undetectable after 9 cycles of AZA therapy. [Discussion] This is the first detailed analysis of donor-derived MDS after CBT at the genetic level. Genes on 11q other than c-CBL may be responsible for the development of MDS that is sensitive to AZA.

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