Translocation (7;9)(q22;q34) in therapy-related myelodysplastic syndrome after allogeneic bone marrow transplantation for acute myeloblastic leukemia

Katsuya Yamamoto, Kimikazu Yakushijin, Yuriko Kawamori, Kentaro Minagawa, Yoshio Katayama, Toshimitsu Matsui

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Abstract

Reciprocal translocations involving the long arm of chromosome 7 are relatively rare cytogenetic aberrations in myelodysplastic syndrome (MDS) and acute myeloblastic leukemia (AML). A 44-year-old woman was initially given a diagnosis of de novo AML M6A with a normal karyotype. After achieving complete remission, she received allogeneic bone marrow transplantation from an unrelated male donor. Seven months later, pancytopenia appeared with 14.8% myeloblasts and dysplastic changes of neutrophils and megakaryocytes in the bone marrow. Chromosome analysis revealed complex karyotypes, with add(7)(q22) and add(9)(q34) detected in all abnormal metaphase spreads; spectral karyotyping revealed these chromosomal aberrations to be derived from a reciprocal translocation t(7;9)(q22;q34). Fluorescence in situ hybridization analyses showed that D7S486 at 7q31 was translocated to the der(9)t(7;9), and that the ABL gene at 9q34 remained on the der(9)t(7;9). Because the same translocation reappeared and sustained for more than 8 months after second stem cell transplantation, we revised the diagnosis as therapy-related MDS after allogeneic transplantation. The t(7;9)(q22;q34) was supposed to have a crucial role in the pathogenesis of MDS. Considering two other such reported cases of AML, the t(7;9)(q22;q34) may be a novel recurrent translocation in myeloid malignancies.

Original languageEnglish (US)
Pages (from-to)61-66
Number of pages6
JournalCancer Genetics and Cytogenetics
Volume176
Issue number1
DOIs
StatePublished - Jul 1 2007

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Myelodysplastic Syndromes
Homologous Transplantation
Bone Marrow Transplantation
Acute Myeloid Leukemia
Karyotype
Chromosome Aberrations
Spectral Karyotyping
Granulocyte Precursor Cells
Unrelated Donors
Pancytopenia
Chromosomes, Human, Pair 7
Megakaryocytes
Stem Cell Transplantation
Metaphase
Fluorescence In Situ Hybridization
Neutrophils
Therapeutics
Chromosomes
Bone Marrow
Genes

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Cancer Research

Cite this

Yamamoto, Katsuya ; Yakushijin, Kimikazu ; Kawamori, Yuriko ; Minagawa, Kentaro ; Katayama, Yoshio ; Matsui, Toshimitsu. / Translocation (7;9)(q22;q34) in therapy-related myelodysplastic syndrome after allogeneic bone marrow transplantation for acute myeloblastic leukemia. In: Cancer Genetics and Cytogenetics. 2007 ; Vol. 176, No. 1. pp. 61-66.
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abstract = "Reciprocal translocations involving the long arm of chromosome 7 are relatively rare cytogenetic aberrations in myelodysplastic syndrome (MDS) and acute myeloblastic leukemia (AML). A 44-year-old woman was initially given a diagnosis of de novo AML M6A with a normal karyotype. After achieving complete remission, she received allogeneic bone marrow transplantation from an unrelated male donor. Seven months later, pancytopenia appeared with 14.8{\%} myeloblasts and dysplastic changes of neutrophils and megakaryocytes in the bone marrow. Chromosome analysis revealed complex karyotypes, with add(7)(q22) and add(9)(q34) detected in all abnormal metaphase spreads; spectral karyotyping revealed these chromosomal aberrations to be derived from a reciprocal translocation t(7;9)(q22;q34). Fluorescence in situ hybridization analyses showed that D7S486 at 7q31 was translocated to the der(9)t(7;9), and that the ABL gene at 9q34 remained on the der(9)t(7;9). Because the same translocation reappeared and sustained for more than 8 months after second stem cell transplantation, we revised the diagnosis as therapy-related MDS after allogeneic transplantation. The t(7;9)(q22;q34) was supposed to have a crucial role in the pathogenesis of MDS. Considering two other such reported cases of AML, the t(7;9)(q22;q34) may be a novel recurrent translocation in myeloid malignancies.",
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Translocation (7;9)(q22;q34) in therapy-related myelodysplastic syndrome after allogeneic bone marrow transplantation for acute myeloblastic leukemia. / Yamamoto, Katsuya; Yakushijin, Kimikazu; Kawamori, Yuriko; Minagawa, Kentaro; Katayama, Yoshio; Matsui, Toshimitsu.

In: Cancer Genetics and Cytogenetics, Vol. 176, No. 1, 01.07.2007, p. 61-66.

Research output: Contribution to journalArticle

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AU - Yamamoto, Katsuya

AU - Yakushijin, Kimikazu

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AU - Matsui, Toshimitsu

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