Inv(2)(p23q13)/RAN-binding protein 2 (RANBP2)-ALK fusion gene in myeloid leukemia that developed in an elderly woman

Yoshitomo Maesako, Kiyotaka Izumi, Satoshi Okamori, Kayo Takeoka, Chiyuki Kishimori, Atsuko Okumura, Gen Honjo, Takashi Akasaka, Hitoshi Ohno

Research output: Contribution to journalArticlepeer-review

22 Citations (Scopus)


A 75-year-old woman presented with marked leukocytosis; the white cell count was 143.6 × 103/μL with 38.6 % monocytes and 13.6 % immature granulocytes, including blasts. Bone marrow (BM) aspirate smears showed >90 % cellularity with hyperplasia of myeloid-lineage cells, 14.6 % monocytes, and 32.1 % blasts. The granulocyte series showed a range of dysplastic morphologies. The rate of peroxidase positivity was 51.5 %. CD36+ cells with monocytic differentiation comprised 64.6 % mononuclear cells. Metaphase spreads obtained from the BM revealed an aneuploid karyotype with -7 and a submetacentric marker chromosome derived from chromosome 2, which was determined to be inv(2)(p23q13) by fluorescence in situ hybridization using the Vysis ALK probe. RAN-binding protein 2 (RANBP2)-ALK fusion mRNA was confirmed by reverse transcriptase-mediated polymerase chain reaction and nucleotide sequencing. High-sensitivity anti-ALK immunohistochemistry of a BM biopsy specimen demonstrated nuclear membrane staining of leukemia cells. As the leukemia showed features of chronic myelomonocytic leukemia, the patient was treated with standard daunorubicin-cytarabine followed by azacitidine, leading to the durable suppression of leukemia progression. These findings suggest that inv(2)(p23q13)/RABBP2-ALK defines a small subset of myeloid leukemia characterized by differentiation to monocytes and sharing features of myelodysplastic syndrome/myeloproliferative neoplasm.

Original languageEnglish
Pages (from-to)202-207
Number of pages6
JournalInternational journal of hematology
Issue number2
Publication statusPublished - 2014 Feb
Externally publishedYes


  • Anti-ALK immunohistochemistry
  • Myeloid leukemia
  • RANBP2-ALK fusion gene
  • inv(2)(p23q13)

ASJC Scopus subject areas

  • Hematology


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