Late appearing Philadelphia chromosome as another clone in a patient with myelodysplastic syndrome harboring der(5;12)(q10;q10) at diagnosis

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  • MANABE Masahiro
    Department of Hematology, Osaka City General Hospital Division of Hematology, Seichokai Fuchu Hospital
  • YOSHII Yumi
    Department of Hematology, Osaka City General Hospital Department of Hematology, Matsushita Memorial Hospital
  • MUKAI Satoru
    Department of Hematology, Osaka City General Hospital
  • SAKAMOTO Erina
    Department of Hematology, Osaka City General Hospital Department of Hematology, Shitennoji Hospital
  • KANASHIMA Hiroshi
    Department of Hematology, Osaka City General Hospital
  • NAKAO Takafumi
    Department of Hematology, Osaka City General Hospital
  • KUBO Yuki
    Department of Pathology, Osaka City General Hospital
  • FUKUSHIMA Hiroko
    Department of Pathology, Osaka City General Hospital
  • INOUE Takeshi
    Department of Pathology, Osaka City General Hospital
  • YAMANE Takahisa
    Department of Hematology, Osaka City General Hospital
  • TESHIMA Hirofumi
    Department of Hematology, Osaka City General Hospital Japanese Red Cross Osaka Blood Center

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Other Title
  • 初診時にder(5;12)(q10;q10)の染色体異常を示し，経過中に別クローン由来の晩発性Philadelphia染色体が陽性となった骨髄異形成症候群
  • 症例報告 初診時にder(5;12)(q10;q10)の染色体異常を示し,経過中に別クローン由来の晩発性Philadelphia染色体が陽性となった骨髄異形成症候群
  • ショウレイ ホウコク ショシンジ ニ der(5;12)(q10;q10)ノ センショクタイ イジョウ オ シメシ,ケイカ チュウ ニ ベツ クローン ユライ ノ バンパツセイ Philadelphia センショクタイ ガ ヨウセイ ト ナッタ コツズイイケイセイ ショウコウグン

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Abstract

A 61-year-old man was referred to our hospital for leukocytosis and thrombocytopenia. Bone marrow examination showed hypercellular bone marrow accompanied by dysplasia, and the karyotype of his bone marrow cells was 46,XY, der(5;12)(q10;q10), +mar,inc[3]/46,XY[12]. A diagnosis of myelodysplastic syndrome, unclassifiable, was made. Analysis of major BCR/ABL1 chimeric RNA by real-time polymerase chain reaction method was positive, and then Ph chromosome was observed afterward. His Ph chromosome was seen in der(5;12)-negative cells analyzed by FISH, which suggested the late-appearing Ph chromosome evolved into another clone. Despite treatment containing imatinib, hydroxyurea, and cytosine arabinoside, he died due to respiratory dysfunction 5 months after the initial diagnosis. The autopsy revealed massive pulmonary infiltration by Ph-negative cells, suggesting MDS-derived clones. It has been reported that the late appearance of Ph chromosome associates with leukemic progression. Although the incidence of late-appearing Ph chromosome is estimated to be relatively low, further accumulation of cases is necessary for the evaluation of its impact on prognosis and disease progression.

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 53 (6), 618-622, 2012

    The Japanese Society of Hematology

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